#  @checkrare CheckRare CheckRare posts on YouTube about rare, university of, in the, gene the most. They currently have [-----] followers and [---] posts still getting attention that total [---] engagements in the last [--] hours. ### Engagements: [---] [#](/creator/youtube::UCp29uhFxrPqHJ8tbDefgr-g/interactions)  - [--] Week [---] +37% - [--] Month [-----] -72% - [--] Months [------] -23% - [--] Year [------] +8.70% ### Mentions: [--] [#](/creator/youtube::UCp29uhFxrPqHJ8tbDefgr-g/posts_active)  - [--] Months [---] +46% - [--] Year [---] +412% ### Followers: [-----] [#](/creator/youtube::UCp29uhFxrPqHJ8tbDefgr-g/followers)  - [--] Week [-----] +0.23% - [--] Month [-----] +1.10% - [--] Months [-----] +6.60% - [--] Year [-----] +19% ### CreatorRank: [---------] [#](/creator/youtube::UCp29uhFxrPqHJ8tbDefgr-g/influencer_rank)  ### Social Influence **Social category influence** [countries](/list/countries) [travel destinations](/list/travel-destinations) [stocks](/list/stocks) [finance](/list/finance) [technology brands](/list/technology-brands) [currencies](/list/currencies) [celebrities](/list/celebrities) [ncaa football](/list/ncaa-football) [automotive brands](/list/automotive-brands) [cryptocurrencies](/list/cryptocurrencies) **Social topic influence** [rare](/topic/rare), [university of](/topic/university-of), [in the](/topic/in-the), [gene](/topic/gene) #255, [ceo](/topic/ceo), [hosted](/topic/hosted), [company](/topic/company), [people with](/topic/people-with), [health](/topic/health), [education](/topic/education) **Top accounts mentioned or mentioned by** [@academycmeorg](/creator/undefined) [@affinitycedcom](/creator/undefined) **Top assets mentioned** [Passage Bio, Inc. (PASG)](/topic/passage-bio) [Sanofi (SNY)](/topic/sanofi) [Enzyme (MLN)](/topic/enzyme) [Acadia Pharmaceuticals Inc. (ACAD)](/topic/$acad) [Johnson & Johnson (JNJ)](/topic/johnson-johnson) [PTC Therapeutics, Inc. (PTCT)](/topic/$ptct) [Ionis Pharmaceuticals, Inc. Common Stock (IONS)](/topic/$ions) ### Top Social Posts Top posts by engagements in the last [--] hours "Interim Data from Gene Therapy for GM1 Gangliosidosis Shows Dramatic Improvement David Weinstein MD Senior Vice President of Clinical Development at Passage Bio discusses new interim clinical data from the Imagine-1 study of PBGM01 a gene therapy for GM1 gangliosidosis. This data was recently presented at WORLDSymposium [----]. GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides in neurons causing rapidly progressive" [YouTube Link](https://youtube.com/watch?v=5Cha2-yenkI) 2022-02-28T12:37Z [----] followers, [---] engagements "Urea Cycle Disorders: Overview and Developing Novel Therapies Yuri Maricich MD Chief Medical Officer of CAMP4 Therapeutics provides an overview of urea cycle disorders (UCDs) and discusses developing novel therapies. UCDs are a group of rare inherited metabolic disorders caused by deficiency of one of the six enzymes in the urea cycle responsible for removing ammonia from the blood stream. The most common of these enzymes are OTC ASS and ASL. Urea is a byproduct of the metabolism that in normal cases is converted to urea and removed from the blood. However in UCDs nitrogen builds up in the" [YouTube Link](https://youtube.com/watch?v=AKrPg7L1ixE) 2025-05-12T19:30Z [----] followers, [---] engagements "GM1 Gangliosidosis Overview Mark Forman MD PhD Chief Medical Officer at Passage Bio gives an overview of GM1 gangliosidosis. As Dr. Forman explains GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides in neurons causing rapidly progressive neurodegeneration. Progressive damage is also seen in the heart liver and bones. The condition may be classified into three major types: classic infantile (type 1); juvenile (type" [YouTube Link](https://youtube.com/watch?v=ZnMvf3F2pvA) 2022-11-01T13:09Z [----] followers, [----] engagements "Friedreichs Ataxia: Diagnosis and Typical Path of Progression R. Nolan Townsend Chief Executive Officer of Lexeo Therapeutics discusses why diagnosis of Friedreichs ataxia can be delayed and how the disease tends to progress. Friedreichs ataxia is a degenerative neuromuscular disorder caused by mutations in the FXN gene which reduces the production of frataxin a protein important for proper mitochondrial functions. The onset of symptoms varies greatly among patients but generally occurs between the ages of [--] to [--] years. Some of the more common symptoms include ataxia fatigue scoliosis" [YouTube Link](https://youtube.com/watch?v=53ULmr5bSIQ) 2021-08-11T22:19Z [----] followers, [----] engagements "Using Gene Therapy to Treat GM1 Gangliosidosis Mark Forman MD PhD Chief Medical Officer at Passage Bio discusses the mechanism of action of PBGM01 an investigational gene therapy for infantile GM1 gangliosidosis. GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides in neurons causing rapidly progressive neurodegeneration. Progressive damage is also seen in the heart liver and bones. The condition may be classified" [YouTube Link](https://youtube.com/watch?v=Ws28L7KoCRs) 2022-08-04T12:48Z [----] followers, [---] engagements "Investigational Drug for Fragile X Syndrome Improves Cognition Elizabeth Berry-Kravis MD PhD Pediatric Neurologist at Rush University Medical Center discusses the development of an investigational drug for Fragile X syndrome (FXS). FXS is a rare genetic condition involving mutations in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. Other signs and symptoms may include" [YouTube Link](https://youtube.com/watch?v=0kb-N62JPzs) 2024-09-20T16:58Z [----] followers, [---] engagements "CAHtalyst Clinical Trials in Adults With Congenital Adrenal Hyperplasia Vivian Lin MD Executive Medical Director of Medical Affairs at Neurocrine discusses the CAHtalyst clinical trials in adults with congenital adrenal hyperplasia (CAH). CAH refers to a group of genetic conditions that affect the adrenal gland production of hormones particularly the production of cortisol and androgen hormones. Persons with severe forms of the condition can be dramatically impacted. For example females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed" [YouTube Link](https://youtube.com/watch?v=3YQJllS7ITw) 2025-09-04T17:21Z [----] followers, [---] engagements "New Treatment Option (SAT-3247) for Duchenne Muscular Dystrophy Shows Promise in Early Phase Trial Wildon Farwell MD Chief Medical Officer at Satellos discusses the safety and efficacy of SAT-3247 to treat adults with Duchenne muscular dystrophy (DMD). DMD is a genetic neuromuscular disorder characterized by progressive muscle wasting. DMD occurs primarily in males though in rare cases may affect females. The symptoms of DMD include progressive weakness and atrophy of both skeletal and heart muscle. Early signs may include delayed ability to sit stand or walk and difficulties learning to" [YouTube Link](https://youtube.com/watch?v=6ch9T6aKZOA) 2025-10-27T16:24Z [----] followers, [---] engagements "Mustang Bio's Chimeric Antigen Receptor Engineered T Cell Program Manuel Litchman MD President Chief Executive Officer at Mustang Bio discusses his company's proprietary chimeric antigen receptor engineered T cell (CAR T) immunotherapies program. Mustang Bio is focused on the development of a broad range of proprietary chimeric antigen receptor engineered T cell (CAR T) immunotherapies and gene therapies in areas of unmet need. Mustang aims to acquire rights to these technologies by licensing or otherwise acquiring an ownership interest to fund research and development and to outlicense or" [YouTube Link](https://youtube.com/watch?v=7mln7GnGDms) 2019-02-27T21:31Z [----] followers, [---] engagements "Gene Therapy Clinical Trial for Frontotemporal Dementia Has Begun Mark Forman MD PhD Chief Medical Officer at Passage Bio discusses the global phase 1/2 upliFT-D clinical trial evaluating PBFT02 an adeno-associated virus (AAV) delivery gene therapy for patients with frontotemporal dementia (FTD) with granulin (GRN) mutations. FTD is a disorder that affects the frontal and temporal lobes of the brain areas that control personality executive function and language. FTD is a form of early onset dementia and currently has no approved disease-modifying therapies. In approximately 510% of" [YouTube Link](https://youtube.com/watch?v=F2IY92Hrdqg) 2022-09-23T10:10Z [----] followers, [---] engagements "Advantages of Intra Cisterna Magna Delivery for Gene Therapy Administration David Weinstein MD Senior Vice President of Clinical Development at Passage Bio discusses why the companys investigational gene therapy PBGM01 is being administered through the cisterna magna. GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides in neurons causing rapidly progressive neurodegeneration. Progressive damage to other tissues" [YouTube Link](https://youtube.com/watch?v=GIQmioKYCoQ) 2022-04-15T11:16Z [----] followers, [----] engagements "GM1 Gangliosidosis Explained Samiah Al-Zaidy MD Vice President of Clinical Development and Lead on the Passage Bio GM1 Gangliosidosis (GM1) Program gives an overview of GM1. As Dr. Al-Zaidy explains GM1 is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides in neurons causing rapidly progressive neurodegeneration. Progressive damage is also seen in the heart liver and bones. The condition may be classified into three major types:" [YouTube Link](https://youtube.com/watch?v=WXMnaY8zpU0) 2023-05-06T16:12Z [----] followers, [----] engagements "Positive Interim Data in Gene Therapy Trial for GM1 Gangliosidosis Mark Forman MD PhD Chief Medical Officer at Passage Bio discusses long-term clinical and biomarker data from Cohort [--] in the phase 1/2 Imagine-1 study of PBGM01 a gene therapy under investigation for GM1 gangliosidosis. This data was presented at the [----] American Society of Gene and Cell Therapy meeting (ASGCT 2022). GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation" [YouTube Link](https://youtube.com/watch?v=c9v7PNssYBo) 2022-06-21T10:42Z [----] followers, [---] engagements "Overview of GM1 Gangliosidosis David Weinstein MD Senior Vice President of Clinical Development at Passage Bio gives an overview of GM1 gangliosidosis. As Dr. Weinstein explains GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides causing rapidly progressive neurodegeneration as well as progressive damage to other tissues including the heart liver and bones. The condition may be classified into three major types:" [YouTube Link](https://youtube.com/watch?v=e4imYHXsSYk) 2022-05-05T11:17Z [----] followers, [---] engagements "What Is Myotonic Dystrophy Type [--] (DM1) Art Levin PhDdistinguished scientist and strategic leader and member of the companys board of directors at Avidity Biosciences provides an overview of myotonic dystrophy type [--] (DM1). As Dr. Levin explains DM1 is a form of muscular dystrophy characterized by myotonia or the inability for muscles to relax as well as muscle weakness. Other common symptoms include respiratory problems fatigue hypersomnia cardiac abnormalities severe gastrointestinal complications and cognitive and behavioral impairment. DM1 is caused by a triplet-repeat in the DMPK gene" [YouTube Link](https://youtube.com/watch?v=qCXflCiJvcU) 2023-03-08T21:46Z [----] followers, [----] engagements "Phenylketonuria (PKU) Explained Cary Harding MD at Oregon Health & Science University (OHSU) provides an overview of phenylketonuria (PKU). PKU is a rare metabolic disease caused by toxic levels of the amino acid phenylalanine (Phe) which can lead to neurocognitive deficits. Despite two approved treatments most patients with PKU are either unresponsive to current therapies or these options present unacceptable safety risks such as anaphylaxis. Given that Phe is found in all sources of natural protein most patients must adhere to a very strict protein-free diet. As noted by Dr. Harding current" [YouTube Link](https://youtube.com/watch?v=0B5CSRtjsa8) 2023-06-23T01:22Z [----] followers, [----] engagements "Interecept Pharma: Focused on Non-Viral Liver Diseases Gail Cawkwell MD PhD Senior Vice President Medical Affairs at Intercept provides an overview of the company. Intercept is a biopharmaceutical company focused on the development and commercialization of novel therapeutics to treat progressive non-viral liver diseases including primary biliary cholangitis (PBC) nonalcoholic steatohepatitis (NASH) primary sclerosing cholangitis (PSC) and biliary atresia. Founded in [----] in New York Intercept has operations in the United States Europe and Canada. CheckRare CheckOrphan Gail Cawkwell MD PhD" [YouTube Link](https://youtube.com/watch?v=2mTd-Q9sXVM) 2018-08-08T11:30Z [----] followers, [---] engagements "Positive Data from Two Gene Therapy Trials for MPS I and MPS II Steve Pakola MD Chief Medical Officer for Regenxbio discusses data from the ongoing gene therapy trials in children with mucopolysaccharidosis type I (MPS I) and mucopolysaccharidosis type II (MPS II). The data was presented at WORLDSymposium [----]. MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme alpha-L-iduronidase which is responsible for breaking down glycosaminoglycans (GAGs). These GAGs accumulate in the tissues of MPS I patients resulting in a diverse clinical profile. In moderate to" [YouTube Link](https://youtube.com/watch?v=2qbHaLRmIZQ) 2022-03-04T11:47Z [----] followers, [---] engagements "Elritercepts Effect on Transfusion Independence in Patients With Myelodysplastic Syndromes Lynette Chee PhD Hematologist at The Royal Melbourne Hospital/ Peter MacCallum Cancer Centre discusses elritercepts effect on transfusion independence (TI) in patients with myelodysplastic syndromes (MDS) MDS are a group of blood disorders characterized by abnormal development of blood cells within the bone marrow. People with MDS have abnormally low blood cell levels. Signs and symptoms may include dizziness fatigue weakness shortness of breath bruising and bleeding frequent infections and headaches." [YouTube Link](https://youtube.com/watch?v=3D762AtjOig) 2026-01-26T20:18Z [----] followers, [---] engagements "Overview of Phenylketonuria (PKU) Matthew Klein MD MS FACS Chief Development Officer at PTC Therapeutics gives an overview of phenylketonuria (PKU). As Dr. Klein explains PKU is a rare genetic metabolic disorder caused by a defect in the gene involve in the production of phenylalanine hydroxylase an enzyme needed to break down the amino acid phenylalanine. The accumulation of phenylalanine can cause damage multiple organs most notably the central nervous system. If PKU is left untreated patients can develop chronic intellectual neurodevelopmental and psychiatric disabilities as well as" [YouTube Link](https://youtube.com/watch?v=3VkPrKcPApQ) 2021-10-07T11:53Z [----] followers, [----] engagements "Long-term Efficacy of Rilzabrutinib in Patients With Immune Thrombocytopenia David Kuter MD DPhil Professor of Medicine at Harvard Medical School Massachusetts General Hospital discusses treatment with rilzabrutinib in patients with immune thrombocytopenia (ITP). ITP is an autoimmune bleeding disorder characterized by too few platelets in the blood. Symptoms may include bruising nosebleeds or bleeding in the mouth bleeding into the skin and abnormally heavy menstruation. Recently new data from the phase [--] LUNA clinical trial (NCT04562766) was presented at the [----] American Society of" [YouTube Link](https://youtube.com/watch?v=3XLc_wOCZX0) 2026-01-07T19:12Z [----] followers, [---] engagements "Efficacy of AMO-02 (tideglusib) in Myotonic Dystrophy Type [--] (DM1) Michael Snape PhD Chief Science Officer at AMO Pharma discusses the efficacy of AMO-02 (tideglusib) for myotonic dystrophy type [--] (DM1). DM1 is a genetic disease affecting the muscles and other body systems. Three forms of DM1 may present: the mild form the classic form and the congenital form. This disease is characterized by progressive muscle loss and weakness. People with myotonic dystrophy usually have prolonged muscle tensing and are not able to relax certain muscles after use. The severity of the disease may vary among" [YouTube Link](https://youtube.com/watch?v=3f-864n_PtY) 2024-05-20T19:23Z [----] followers, [---] engagements "SOBI Overview Rami Levin President Sobi in North America provides a brief overview of his company. CheckOrphan CheckRare Rare Disease Report Rami Levin Still's disease Kineret anakinra rare inflammatory disorder CheckOrphan CheckRare Rare Disease Report Rami Levin Still's disease Kineret anakinra rare inflammatory disorder" [YouTube Link](https://youtube.com/watch?v=5QjgPr4m3Xc) 2017-10-23T21:30Z [----] followers, [---] engagements "Can We Streamline How AAV Gene Therapies Are Developed P.J. Brooks PhD Acting Director of the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences (NCATS) describes the Platform Vector Gene Therapy (PaVe-GT) pilot project. As Dr. Brooks explains adeno-associated virus (AAV) gene therapies use a modified version of AAV to deliver a working copy of a defective gene into the relevant cells for a given disease including cells in the eye liver brain muscle and other organs. AAV gene therapy is a promising platform for many single-gene rare diseases and" [YouTube Link](https://youtube.com/watch?v=5g63pBRadjM) 2022-03-17T11:20Z [----] followers, [---] engagements "Fibromuscular Dysplasia (FMD) Overview Jeffrey W Olin DO is a Professor of Medicine at the Icahn School of Medicine at Mount Sinai and Director of Vascular Medicine and the Vascular Diagnostic Laboratory in the Zena and Michael A. Wiener Cardiovascular Institute and Marie-Jose and Henry R. Kravis Center for Cardiovascular Health of The Mount Sinai Medical Center. In this video Dr Olin provides an overview of fibromuscular dysplasia (FMD) a rare condition characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow. The" [YouTube Link](https://youtube.com/watch?v=6MuLWMhRBNQ) 2019-05-06T10:11Z [----] followers, [----] engagements "Study Results Demonstrate Favourable Efficacy and Safety of Lumasiran for PH1 Pritesh J. Gandhi PharmD Vice President and General Manager Lumasiran Program at Alnylam Pharmaceuticals discusses the results of the Illuminate-A study a Phase [--] randomized double-blind placebo-controlled study that evaluated the efficacy and safety of lumasiran in children (age [--] or older) and adults with primary hyperoxaluria type [--] (PH1). PH1 is a rare genetic disease in which excessive oxalate production leads to painful and recurrent kidney stones. These recurrent stones increase the chance of hematuria" [YouTube Link](https://youtube.com/watch?v=7LRyK6SYqzc) 2021-05-06T15:01Z [----] followers, [---] engagements "Dr. Ido Weinberg Provides an Overview of Fibromuscular Dysplasia (FMD) Ido Weinberg MD Medical Director VASCORE; Assistant Professor of Medicine Havard Medical School Co-Medical Director Anticoagulation Management Services Massachusetts General Hospital provides an overview of Fibromuscular Dysplasia (FMD). FMD is a rare disease that causes one or more arteries in the body to have abnormal cell development in the artery wall. As a result areas of narrowing (called stenosis) aneurysms or tears (called dissections) may occur. If narrowing or a tear causes a decrease in blood flow through the" [YouTube Link](https://youtube.com/watch?v=7MGWZKiu7iI) 2019-05-13T13:34Z [----] followers, [----] engagements "Investigational Therapy INZ-701 for ENPP1 Deficiency Correction: Dr. Weber cited the genetic incidence of ENPP1 deficiency as 1/100000 It is actually 1/64000 David Weber MD Attending Physician and Medical Director of the Center for Bone Health at Childrens Hospital of Philadelphia discusses investigational treatment INZ-701 for ENPP1 deficiency. ENPP1 deficiency is a rare metabolic disease caused by mutations in the ENPP1 enzyme. This enzyme is responsible for the cleavage of ectonucleotides that prevent mineralization. In ENPP1 deficiency calcium phosphate precipitates throughout the body" [YouTube Link](https://youtube.com/watch?v=7bSWjNXBmIQ) 2024-10-01T15:47Z [----] followers, [---] engagements "BioPharma ProQR Provides a Company Overview Daniel de Boer Founder and CEO of ProQR provides an overview of his company. ProQR's focus is on diseases that are very severe or life threatening and have limited treatment options. The company is developing new therapies for several forms of inherited blindness such as Lebers congenital amaurosis and Usher syndrome cystic fibrosis and a debilitating skin disease called dystrophic epidermolysis bullosa. Mr. de Boer also explains Leber's congenital amaurosis Type [--] (LCA 10) a genetic eye disorder and the leading genetic cause of childhood" [YouTube Link](https://youtube.com/watch?v=7hUmnyV-vCw) 2018-05-29T00:56Z [----] followers, [---] engagements "What Is the Difference Between Frontotemporal Dementia (FTD) and FTD With GRN Mutations Mark Forman MD PhD Chief Medical Officer at Passage Bio gives an overview of frontotemporal dementia (FTD) with granulin (GRN) mutations. As Dr. Forman explains FTD is a disorder that affects the frontal and temporal lobes of the brain areas that control personality executive function and language. FTD is a form of early onset dementia and currently has no approved disease-modifying therapies. In approximately 510% of individuals with FTD the disease involves mutations in the GRN gene. These mutations" [YouTube Link](https://youtube.com/watch?v=8J8Mar_Sl08) 2022-11-18T11:01Z [----] followers, [---] engagements "Corbus Pharmaceuticals Overview Yuval Cohen PhD CEO of Corbus Pharmaceuticals provides a compnay overview focusing on Lenabasum a novel synthetic oral endocannabinoid-mimetic drug designed to resolve chronic inflammation and fibrotic processes. Lenabasum is currently being evaluated in clinical studies for systemic sclerosis cystic fibrosis dermatomyositis and systemic lupus erythematosus CheckRare CheckOrphan Yuval Cohen PhD Corbus lenabasum inflammation in auto-immune di systemic sclerosis dermatomyositis systemic lupus erythematosus cystic fibrosis Cystic Fibrosis Foundation CheckRare" [YouTube Link](https://youtube.com/watch?v=9vU-cuiPj90) 2018-04-20T12:22Z [----] followers, [---] engagements "Sangamo Therapeutics Focus on Rare Diseases Nathalie Dubois-Stringfellow PhD Senior Vice President of Product Development & Management at Sangamo Therapeutics discusses the companys focus on rare diseases. Sangamo Therapeutics Inc has several gene therapies in clinical development to treat various rare conditions including hemophilia A and Fabry disease as discussed by Dr. Dubois-Stringfellow. Hemophilia A is a genetic disorder caused by missing or defective factor VIII a clotting protein. Symptoms will vary and are dependent on the level factor VIII present. In the more severe forms of the" [YouTube Link](https://youtube.com/watch?v=AQ3sBRI2b6c) 2023-01-10T15:48Z [----] followers, [---] engagements "Adzynma and How It Affects Congenital Thrombotic Thrombocytopenic Purpura (cTTP) Dr. Mellgrd MD PhD Vice President Global Program Lead Rare Genetics and Hematology Takeda explains the introduction of Adzynma and how it affects congenital thrombotic Thrombocytopenic purpura (cTTP). Transcription: Just like the several other products that we have in Takeda Adzynma is a pure replacement. We are giving the patient what they are missing. These C-T-T-P patients have a congenital deficiency of ADAMTS13 and Adzynma is then a recombinant form of ADAMTS13 and we're just giving that back. Now I don't" [YouTube Link](https://youtube.com/watch?v=BC5ZeoMZQz8) 2024-01-04T01:29Z [----] followers, [---] engagements "Newly-Diagnosed ENPP1 Deficiency: Advice for Parents Axel Bolte MSc MBA Co-Founder President and Chief Executive Officer Inozyme Pharmaceuticals gives advice to parents of a baby diagnosed with ENPP1 deficiency. The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase [--] (ENPP1) which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating normal bone mineralization. Individuals who present in utero or in infancy are typically diagnosed with generalized arterial" [YouTube Link](https://youtube.com/watch?v=BsF6aK0uj3U) 2022-06-21T11:06Z [----] followers, [---] engagements "PKU Treatment: Medical Foods vs Kuvan vs Palynziq Gerald Vockley MD PhD Head of the Division of Medical Genetics at UPMC Childrens Hospital of Pittsburgh discusses the limitations of the current treatment options for individuals with phenylketonuria (PKU). As Dr. Vockley explains PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body which can cause significant organ damage especially in the central nervous system. If left untreated PKU patients can develop chronic intellectual" [YouTube Link](https://youtube.com/watch?v=DIir81TuEDQ) 2023-01-09T22:53Z [----] followers, [----] engagements "Overview of Paroxysmal Nocturnal Hemoglobinuria (PNH) OverMonica Fay PharmD Senior Vice President of Global Medical Affairs at Apellis Pharmaceuticals gives an overview of paroxysmal nocturnal hemoglobinuria (PNH). As Dr. Fay explains PNH is a rare life-threatening blood disorder characterized by hemolysis. Persistently low hemoglobin levels can result in severe fatigue and difficulty breathing. Additionally individuals with PNH are susceptible to thrombotic events and many have some degree of bone marrow dysfunction. In May [----] the U.S. Food and Drug Administration (FDA) approved" [YouTube Link](https://youtube.com/watch?v=ELRi3B5Ob2E) 2022-02-15T11:20Z [----] followers, [---] engagements "Stefan Weber Newron Pharmaceuticals: Company Overview and Focus on Rett Syndrome Stefan Weber CEO of Newron Pharmaceuticals provides a company overview and the focus on Rett Syndrome. Newron is focused on the development of novel therapies for patients with diseases of the central and peripheral nervous system. Xadago (safinamide) has received marketing authorization for the treatment of Parkinsons disease in the European Union Switzerland and the USA and is commercialized by Newrons Partner Zambon. Newron also has a strong pipeline of promising treatments for rare disease patients at various" [YouTube Link](https://youtube.com/watch?v=EUzbRuY4SH8) 2018-02-16T15:11Z [----] followers, [----] engagements "Four Clinical Trials Testing Risdiplam Across Various SMA Subtypes Dalia Moawad MD Executive Director Head of Neurological Rare Diseases Medical Affairs at Genentech outlines the companys Evrysdi (risdiplam) clinical development program. This program was designed to represent a broad spectrum of people living with spinal muscular atrophy (SMA). Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The absence of the SMN protein leads to cellular imbalances in motor" [YouTube Link](https://youtube.com/watch?v=EWauQE6KvKQ) 2021-04-15T23:31Z [----] followers, [---] engagements "Hereditary Angioedema (HAE) Highlights from ACAAI [----] Annual Meeting This accredited CME activity led by Jonathan Bernstein MD Professor of Medicine at the University of Cincinnati provides a summary of the latest information about hereditary angioedema (HAE) that was presented at the American College of Allergy Asthma & immunology [----] Annual Scientific Meeting (ACAAI 2021). Since to the Covid-19 pandemic limited the ability for ACAAI members to commit fully to the 5-day event this program provides a concise means to share the clinically relevant information presented at ACAAI [----] with" [YouTube Link](https://youtube.com/watch?v=H4qj67N9cQo) 2025-10-06T15:22Z [----] followers, [--] engagements "Immune Thrombocytopenia (ITP) Research Highlights: ISTH [----] This accredited CME program highlights the latest clinical research about immune thrombocytopenia (ITP) a rare thrombotic disorder. Led by Shruti Chaturvedi MD this program provides a summary of clinically relevant data presented at the International Society of Thrombosis and Haemostatis Congress (ISTH 2025) that can enhance the care of patients with ITP. This program is supported by an educational grant from Sanofi. To receive CME credit go to" [YouTube Link](https://youtube.com/watch?v=H907CNI_qhc) 2025-10-07T17:39Z [----] followers, [---] engagements "Updated Gene Therapy Trial for GM1 Gangliosidosis Samiah Al-Zaidy MD Vice President of Clinical Development and Lead on the Passage Bio GM1 Gangliosidosis (GM1) Program discusses the updated data from Imagine-1 evaluating PBGM01 in GM1 which was presented at WORLDSymposium [----]. GM1 is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides in neurons causing rapidly progressive neurodegeneration. Progressive damage is also seen in the heart" [YouTube Link](https://youtube.com/watch?v=IPOhVsUgSp0) 2023-04-12T14:56Z [----] followers, [---] engagements "Alnylam and the PH1 Community Waiting for the FDA to Approve Lumasiran Pritesh J. Gandhi PharmD of Alnylam Pharmaceuticals explains the companys hope that lumasiran obtains FDA approval to treat primary hyperoxalaluria type [--] (PH1). A PDUFA data is set for December [--] [----]. PH1 is a PH1 is a rare genetic disease in which excessive oxalate production leads to painful and recurrent kidney stones. These recurrent stones increase the chance of hematuria urinary tract infections and end stage renal disease (ESRD). Lumasiran is an RNAi drug that targets hydroxyacid oxidase [--] (HAO1) the gene that" [YouTube Link](https://youtube.com/watch?v=JTEJnhWdXrI) 2020-11-23T18:00Z [----] followers, [--] engagements "Horizon Therapeutics Personal Approach to Rare Diseases Elizabeth Thompson PhD at Horizon Therapeutics explains why rare diseases like thyroid eye disease (TED) are at the heart of the companys mission. TED is a rare autoimmune disease causing permanent facial disfigurement severely affecting patients quality of life and daily function. The disease often presents suddenly with an avalanche of endocrine and ophthalmic symptoms impairing normal life. In January [----] the U.S. Food and Drug Administration (FDA) approved Horizons Tepezza (teprotumumab trbw) the first drug indicated to treat" [YouTube Link](https://youtube.com/watch?v=Kyahfh4xEwo) 2021-01-15T21:13Z [----] followers, [---] engagements "Positive Preliminary Results for Gene Therapy in Auditory Neuropathy Spectrum Disorder Lawrence Lustig MD Otolaryngology-Head & Neck Surgery at Columbia University discusses preliminary results from the CHORD trial testing the safety efficacy and tolerability of investigational gene therapy DB-OTO in children with otoferlin-related auditory neuropathy. Auditory neuropathy spectrum disorder (ANSD) is a rare condition that can affect a person's ability to hear. Although sounds enter the inner ear normally signals from the inner ear to the brain are not transmitted properly. As a result the" [YouTube Link](https://youtube.com/watch?v=LGbdabdbJWE) 2024-06-05T13:26Z [----] followers, [---] engagements "Mezagitamab in Patients With Immune Thrombocytopenia David Kuter MD DPhil Director of Clinical Hematology at Massachusetts General Hospital discusses recent results of a trial of mezagitamab in patients with immune thrombocytopenia (ITP). ITP is an autoimmune bleeding disorder characterized by too few platelets in the blood. Symptoms may include bruising nosebleed or bleeding in the mouth bleeding into the skin and abnormally heavy menstruation. Rarely ITP may become a chronic ailment in adults and reappear even after remission. Mezagitamab is a fully human immunoglobulin IgG1 monoclonal" [YouTube Link](https://youtube.com/watch?v=LMAQN47CG1A) 2025-07-10T13:36Z [----] followers, [---] engagements "New Staging Tool for Cutaneous T-cell Lymphoma (PROBEinCTCL) Greg Palko Vice President and Oncology Franchise Head of Kyowa Kirin North America discusses a new cutaneous T-cell lymphoma (CTCL) Staging Tool. CTCL is a rare group of malignancies that attack the bodys immune lymphatic system affecting both B-cells and T-cells. The underlying cause of CTCL is not fully understood. Genetic causes are suspected but these issues appear to be sporadic mutations for the most common forms of CTCL. The most common subtypes of CTCL are Szary syndrome and mycosis fungoides. Common symptoms include" [YouTube Link](https://youtube.com/watch?v=NB5nvnm6mAo) 2025-09-17T18:02Z [----] followers, [---] engagements "ASH 2022: Talquetamab Showing Promise in Multiple Myeloma Clinical Trial Ajai Chari MD Professor of Medicine and Director of Clinical Research Multiple Myeloma Program Mount Sinai School of Medicine discusses results from the phase 1/2 MonumenTAL-1 clinical trial. These results were recently presented at this years American Society of Hematology Meeting & Exposition (ASH 2022). Multiple myeloma is a rare blood cancer associated with uncontrolled growth of plasma cells. Symptoms of multiple myeloma may include: bone pain (particularly in the chest and spine) frequent infections weakness or" [YouTube Link](https://youtube.com/watch?v=NQFM13SEgUo) 2022-12-14T12:00Z [----] followers, [---] engagements "Clinical Trial Evaluating Investigational AVB-101 in Patients With FTD James Brad Elder MD Director of Neurosurgical Oncology at the Ohio State University Comprehensive Cancer Center discusses a clinical trial evaluating the investigational gene therapy AVB-101 in patients with frontotemporal dementia (FTD). FTD is a neurodegenerative disorder associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include changes in social behavior and personality and/or problems with language. People with behavior changes may have disinhibition apathy and loss of empathy" [YouTube Link](https://youtube.com/watch?v=O3i9qSUDhZs) 2024-07-22T18:37Z [----] followers, [---] engagements "Epstein-Barr virus associated post-transplant lymphoproliferative disorder (EBV+ PTLD) Mohamad Mohty MD PhD Professor of Hematology at Sorbonne University and Head of the Hematology and Cellular Therapy Department at the Saint Antoine Hospital in Paris discusses EBV+ PTLD is an aggressive lymphoma that occurs following bone marrow transplant (also known as hematopoietic stem cell transplant or HCT) or solid organ transplant (SOT). Two Phase [--] clinical studies are underway (MATCH and ALLELE) to evaluate tab-cel in patients with EBV+ PTLD who have failed rituximab following HCT or SOT. In a" [YouTube Link](https://youtube.com/watch?v=OjcpgLwtbKc) 2018-12-23T12:14Z [----] followers, [----] engagements "Trofinetide Proposed Mechanism of Action in Rett Syndrome Kathie Bishop PhD Chief Scientific Officer Acadia Pharmaceuticals discusses the proposed mechanism of action of trofinetide an investigational treatment for Rett syndrome. Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first [--] to [--] months of life followed by a developmental plateau and then rapid regression in language and motor skills. As Dr. Bishop explains trofinetide is a synthetic analog of the aminoterminal" [YouTube Link](https://youtube.com/watch?v=QzwoIvlnqgc) 2022-03-15T10:02Z [----] followers, [----] engagements "Plans for Two Phase [--] Studies Testing Oxypurinol To Treat ADPKD Announced Allen Davidoff PhD CEO of XORTX Therapeutics discusses two phase [--] studies set to launch in the next two years evaluating oxypurinol in patients with autosomal dominant polycystic kidney disease (ADPKD). ADPKD is a genetic disorder characterized by the formation of cysts in the kidneys. The most common symptoms hypertension flank pain hematuria and kidney insufficiency are caused by cyst formation. In most patients ADPKD leads to end-stage renal disease which requires either dialysis or a kidney transplant. ADPKD is" [YouTube Link](https://youtube.com/watch?v=SJDtGzr14zE) 2023-02-22T15:25Z [----] followers, [---] engagements "Glyn Edwards of Summit Therapeutics Discusses Endpoints of DMD Trials Glyn Edwards of Summit Therapeutics discusses endpoints of Duchenne muscular dystrophy (DMD) clinical trials. DMD is one of the most common fatal genetic disorders diagnosed in children around the world. DMD is an X-linked disease meaning that it predominantly affects males and it results in the progressive wasting of muscles throughout the body. The disease has an estimated incidence of [--] in [----] and a patient population in the developed world of approximately [-----]. Approximately two thirds of new DMD cases are due to" [YouTube Link](https://youtube.com/watch?v=SYzGgENsBxo) 2018-03-09T20:49Z [----] followers, [--] engagements "Latest Results Regarding Immune Thrombocytopenia David J. Kuter MD DPhil discusses the latest results regarding immune thrombocytopenia (ITP) presented at ASH [----]. ITP is an autoimmune bleeding disorder characterized by too few platelets in the blood. Symptoms may include bruising nosebleed or bleeding in the mouth bleeding into the skin and abnormally heavy menstruation. Rarely ITP may become a chronic ailment in adults and reappear even after remission. Dr. Kuter provided an overview of clinically relevant data about ITP presented at the ASH [----] meeting. LUNA [--] Clinical Trial LUNA [--] is" [YouTube Link](https://youtube.com/watch?v=TY3HoJBUL48) 2025-01-13T16:23Z [----] followers, [---] engagements "Alnylam Pharma and the Science of RNAi Dr. John Maraganore CEO of Alnylam discusses RNA interference (RNAi) a breakthrough in understanding how genes are regulated in cells. It also represents a completely new approach to drug discovery and development. [--] Key Features of an RNAi Therapeutics Approach [--]. The ability to harness a natural pathway. RNAi is a natural pathway involved in regulation of gene expression in all mammalian cells and is mediated by small interfering RNA (siRNA) molecules. By harnessing this natural biologic pathway RNAi therapeutics can be readily designed to be highly" [YouTube Link](https://youtube.com/watch?v=Tk5NWy1wvxo) 2018-04-15T14:22Z [----] followers, [---] engagements "Signs and Symptoms of Pulmonary Arterial Hypertension Roxana Sulica MD Associate Professor Department of Medicine and Director Pulmonary Hypertension at NYU Langone in New York City discusses the signs and symptoms of pulmonary arterial hypertension (PAH) a progressive condition that affects the heart and lungs. PAH is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dyspnea) during exertion and fainting spells. As the condition" [YouTube Link](https://youtube.com/watch?v=X9UkM2XV6-M) 2018-01-23T22:09Z [----] followers, [----] engagements "Aquestive Therapeutics Clinical Pipeline (ALS LGS Epilsepsy) Aquestive Therapeutics is a specialty pharmacy company that is highly focused on providing treatment options for persons unable to properly swallow medicine. In this video Daniel Barber is Chief Operating Officer at Aquestive describes the three medications they have in development. The first is Sympazan (clobazam) for treating Lennox-Gastaut syndrome. The second is Exservan (riluzole) for treating amyotrophic lateral sclerosis (ALS) and the third is Libervant (diazepam) to manage breakthrough seizures. Aquestives drug delivery" [YouTube Link](https://youtube.com/watch?v=_APcD48W1Tk) 2019-10-04T10:31Z [----] followers, [---] engagements "Jan-Anders Karlsson Discusses Verona Pharma Verona Pharma is a clinical-stage biopharmaceutical company focused on the development and commercialization of innovative therapeutics for the treatment of respiratory diseases with significant unmet medical needs. Vermona's lead candidate RPL554 is a new generation of drugs with a novel mode of action and has the potential to provide relief for the many patients suffering from respiratory conditions such as chronic obstructive pulmonary disease (COPD) cystic fibrosis (CF). RPL554 is a first-in-class inhaled dual inhibitor of the enzymes" [YouTube Link](https://youtube.com/watch?v=_RXGYNvmKLU) 2018-02-18T14:47Z [----] followers, [---] engagements "Positive Interim Data from Phase [--] Trial of Oral Drug for PKU Jerry Vockley MD PhD Head of the Division of Medical Genetics at UPMC Childrens Hospital of Pittsburgh gives an overview of the treatment landscape for phenylketonuria (PKU) going further into detail about the mechanism of action of SYNB1618 an oral drug being investigated for treatment of this disease. PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body which can cause significant organ damage especially in the central" [YouTube Link](https://youtube.com/watch?v=_bbnnVnrLZo) 2021-12-09T11:08Z [----] followers, [---] engagements "Trofinetide Mechanism of Action to Treat Rett Syndrome Kathie Bishop PhD Chief Scientific Officer Acadia Pharmaceuticals describes the mechanism of action of trofinetide an orphan drug in development to treat Rett syndrome which was recently assigned a PDUFA date of March [--] [----]. Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first [--] to [--] months of life followed by a developmental plateau and then rapid regression in language and motor skills. As Dr. Bishop explains" [YouTube Link](https://youtube.com/watch?v=bQV3jzjYYdU) 2022-10-06T11:39Z [----] followers, [----] engagements "Glyn Edwards of Summit Therapeutics Discusses the PhaseOut DMD Trial Glyn Edwards of Summit Therapeutics discusses his company's Duchenne Muscular Dystrophy (DMD) program. DMD is one of the most common fatal genetic disorders diagnosed in children around the world. DMD is an X-linked disease meaning that it predominantly affects males and it results in the progressive wasting of muscles throughout the body. The disease has an estimated incidence of [--] in [----] and a patient population in the developed world of approximately [-----]. Approximately two thirds of new DMD cases are due to inherited" [YouTube Link](https://youtube.com/watch?v=beQh_4cAEFg) 2018-02-15T15:46Z [----] followers, [--] engagements "SIERRA Phase [--] Trial Update Sandesh Seth Executive Chairman of Actinium Pharmaceuticals discusses the SIERRA (Study of Iomab-B in Elderly Relapsed or Refractoy AML) trial a multi-center randomized controlled pivotal Phase [--] study of Iomab-B in patients with relapsed or refractory Acute Myeloid Leukemia (AML) who are over the age of [--]. The Company established an agreement with the FDA that the path to a Biologics License Application (BLA) submission could include the SIERRA trial if it is successful. The primary endpoint in the pivotal Phase [--] trial is durable complete remission defined as a" [YouTube Link](https://youtube.com/watch?v=ceGL2cxYvaY) 2017-03-26T20:40Z [----] followers, [---] engagements "Paroxysmal Nocturnal Hemoglobinuria (PNH) Pathophysiology Symptoms and Diagnosis Federico Grossi MD chief medical officer at Apellis Pharmaceuticals discusses the pathophysiology of paroxysmal nocturnal hemoglobinuria (PNH). Dr. Grossi also describes the typical symptoms and diagnostic journal that PNH patients must endure. PNH is a rare genetic blood disorder characterized by hemolytic anemia thrombosis and impaired bone marrow function. For more information about PNH and other rare blood disorders visit checkrare.com/diseases/hematologic-disorders/" [YouTube Link](https://youtube.com/watch?v=d3nrt5E-86g) 2020-07-24T11:40Z [----] followers, [----] engagements "Fibromuscular Dysplasia (FMD): Signs and Symptoms and Recent Research in this Rare Disorder Jeffrey W Olin DO Professor of Medicine at the Icahn School of Medicine at Mount Sinai discusses the signs and symptoms of fibromuscular dysplasia (FMD) and recent research in this rare condition. FMD is characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow. The carotid arteries which pass through the neck and supply blood to the brain are commonly affected. Arteries within the brain and kidneys can also be affected. Some" [YouTube Link](https://youtube.com/watch?v=d5zXqcKi5nE) 2019-05-13T11:37Z [----] followers, [----] engagements "Submission of New Drug Application: Rusfertide for Polycythemia Vera Dinesh Patel PhD CEO of Protagonist Therapeutics discusses the New Drug Application (NDA) submission to the US Food and Drug Administration (FDA) for rusfertide to treat adults with polycythemia vera (PV). PV is characterized by excess red blood cells in the bloodstream increasing the risk for blood clots. Most cases of PV are acquired and occur more frequently in men than in women. The condition has been associated with genetic changes in the JAK2 and TET2 genes. Rusfertide is an investigational first-in-class" [YouTube Link](https://youtube.com/watch?v=f3XagOLd9C8) 2026-02-12T20:07Z [----] followers, [--] engagements "Diagnosing and Managing Alpha-Mannosidosis Featuring Markey McNutt MD PhD This is the third of a four-part series focusing on alpha-mannosidosis. In this episode we feature Dr. Markey McNutt who will focus on the challenges of identifying and caring for patients with this rare disease. Dr. McNutt is a Clinical Geneticist at the University of Texas Southwestern Medical Center in Dallas. Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into" [YouTube Link](https://youtube.com/watch?v=gpsKq63OzMA) 2025-10-07T17:22Z [----] followers, [--] engagements "Rett Syndrome Is a Neurodevelopmental Disorder Not a Neurodegenerative Disorder: Why This Matters. Kathie Bishop PhD Chief Scientific Officer Acadia Pharmaceuticals explains that Rett syndrome is a neurodevelopmental disorder not a neurodegenerative one and why this is an important distinction. As Dr. Bishop explains Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first [--] to [--] months of life followed by a developmental plateau and then rapid regression in language and motor" [YouTube Link](https://youtube.com/watch?v=hdS0yOZ0K7Q) 2022-11-29T11:22Z [----] followers, [---] engagements "The Importance of Determining the Etiology of Left Ventricular Hypertrophy John Jefferies MD of the University of Tennessee Health Science Center discusses the importance of determining the etiology of left ventricular hypertrophy(LVH) to determine if it is a genetic problem (such as Fabry disease). Fabry disease is a rare lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide. Common features of Fabry disease include acroparesthesias angiokeratomas hypohidrosis corneal opacity gastrointestinal problems tinnitus and hearing loss. Fabry disease also involves" [YouTube Link](https://youtube.com/watch?v=ihfskHMfty0) 2022-05-17T10:37Z [----] followers, [----] engagements "Improving Health Equity in Hereditary Angioedema (HAE): A Panel Discussion This educational program is made possible by an unrestricted grant from Takeda Pharmaceuticals. Hereditary angioedema (HAE) is a rare genetic disease that results in immunologic attacks that can be life-threatening. HAE is the result of reduced levels of C1-inhibitor a protein involved in various physiological processes in plasma most notably with the complement system. C1-inhibitor also binds and inhibits plasma kallikrein and factor XIa thereby affecting bradykinin production. It is believed that the disruptions of" [YouTube Link](https://youtube.com/watch?v=j8oxg7SkllA) 2025-10-07T17:39Z [----] followers, [---] engagements "IgA Nephropathy Treatment Options Andy Udell President of Calliditas Therapeutics North America discusses IgA nephropathy and their Tarpeyo (budesonide) treatment. He also talks about Calliditas Phase [--] NefIgArd Study. Immunoglobulin A (IgA) nephropathy is a rare autoimmune kidney disorder caused by the accumulation of IgA in the kidneys. IgA nephropathy typically has little to no symptoms in the early stages. A common early presenting symptom is blood in the urine. If left unmanaged the disease can progress to end-stage kidney disease. Researchers have linked several disorders with IgA" [YouTube Link](https://youtube.com/watch?v=joGliR4_R80) 2024-01-10T08:00Z [----] followers, [----] engagements "The LAVENDER Trial: Data That Supported the FDA Approval of Trofinetide to Treat Rett Syndrome Ponni Subbiah MD MPH Chief Medical Officer at Acadia Pharmaceuticals discusses the results of the LAVENDER trial which led to the approval of trofinetide (DAYBUE) in patients with Rett syndrome. Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have develop normally during the first [--] to [--] months of life followed by a developmental plateau and then rapid regression in language and motor skills as synaptic connections deteriorate" [YouTube Link](https://youtube.com/watch?v=lVxVOW-prqk) 2023-04-24T15:06Z [----] followers, [---] engagements "Results From the PEGASUS Clinical Trial of Pegvaliase in Patients With PKU Kevin Eggan PhD Chief Scientific Officer at BioMarin discusses new results from the PEGASUS clinical trial of Palynziq (pegvaliase) for treating patients with phenylketonuria (PKU). PKU is a genetic metabolic disorder that increases the body's levels of phenylalanine. Phenylalanine is an amino acid of proteins. Humans cannot make phenyalanine but it is a natural part of the foods we eat. However people do not need all the phenyalanine they eat so the body converts extra phenylalanine to another harmless amino acid" [YouTube Link](https://youtube.com/watch?v=lyLWMUQJ0C0) 2025-09-25T15:20Z [----] followers, [---] engagements "The Origins of Orchard Pharmaceuticals A Unique Gene Therapy Company Bobby Gaspar MD chief scientific officer at Orchard Therapeutics describes the origins of the company and his involvement. Dr. Gaspar is a professor of paediatrics and immunology at the UCL Great Ormond Street Institute of Child Health in London UK. As an academic physician I was looking after children with very severe immune deficiencies and actually what we found was the children would either die of their disease or if there was a bone-marrow transplant then that could have side effects and they would die from some of the" [YouTube Link](https://youtube.com/watch?v=nuqyOx2i0iY) 2019-09-16T11:28Z [----] followers, [---] engagements "Diagnosing Paroxysmal Nocturnal Hemoglobinuria (PNH) Christopher Patriquin MD Hematologist at Toronto General Hospital discusses the diagnostic process for paroxysmal nocturnal hemoglobinuria (PNH) including symptoms that may suggest the disease. PNH is a rare life-threatening blood disorder characterized by hemolysis. Persistently low hemoglobin levels can result in severe fatigue and difficulty breathing. Additionally individuals with PNH are susceptible to thrombotic events and many have some degree of bone marrow dysfunction. As Dr. Patriquin explains despite increased awareness of the" [YouTube Link](https://youtube.com/watch?v=o7VXZ_mAot4) 2023-01-05T18:51Z [----] followers, [----] engagements "Phase [--] Trial Testing Probiotic to Treat Phenylketonuria (PKU) Is Enrolling Patients Cary Harding MD Professor of Molecular and Medical Genetics at Oregon Health & Science University (OHSU) highlights the data evaluating SYNB1984 to treat phenylketonuria (PKU). PKU is a rare metabolic disease caused by uncontrollable levels of the amino acid phenylalanine (Phe) which can lead to neurocognitive deficits. Despite two approved treatments most patients with PKU are either unresponsive to current therapies or these options present unacceptable safety risks such as anaphylaxis. Given that Phe is" [YouTube Link](https://youtube.com/watch?v=oLtP2GybsNc) 2023-06-24T01:02Z [----] followers, [---] engagements "Mother of Two SMA Children Compares Their Diagnostic Journeys Emily Holtvluwer mother of two young children with spinal muscular atrophy (SMA) discusses the two different diagnostic journeys her kids went through to get a diagnosis. Her oldest child was not diagnosed for several months after symptoms began to appear while her second child was diagnosed in utero. As Ms. Hotvluwar explains newborn screening for SMA would have helped her oldest daughter immensely in getting a diagnosis more quickly and receive treatment before many of her motor neurons had atrophied. SMA is a rare inherited" [YouTube Link](https://youtube.com/watch?v=ohT5l7FZZLY) 2021-03-01T19:28Z [----] followers, [----] engagements "Glyn Edwards Discusses Summit Therapeutics Glyn Edwards of Summit Therapeutics discusses his company. DMD is one of the most common fatal genetic disorders diagnosed in children around the world. DMD is an X-linked disease meaning that it predominantly affects males and it results in the progressive wasting of muscles throughout the body. The disease has an estimated incidence of [--] in [----] and a patient population in the developed world of approximately [-----]. Approximately two thirds of new DMD cases are due to inherited mutations with the remaining one third resulting from spontaneous" [YouTube Link](https://youtube.com/watch?v=p7dGTYCL0_Y) 2018-02-26T21:31Z [----] followers, [--] engagements "Elranatamab in Black or African-American Patients with Multiple Myeloma Asya-Nina Varshavsky-Yanovsky MD PhD Assistant Professor and Myeloma Program Lead at Fox Chase Cancer Center in Philadelphia PA discusses the safety of elranatamab in Black or African-American patient subgroups. Multiple myeloma is a form of cancer caused by abnormal and uncontrolled growth of plasma cells in the bone marrow. The most common symptom is anemia which can also cause fatigue and shortness of breath among other symptoms. The underlying cause of multiple myeloma is currently unknown. Factors that are associated" [YouTube Link](https://youtube.com/watch?v=pNW9KPY1ycE) 2024-01-14T08:00Z [----] followers, [---] engagements "Glyn Edwards of Summit Therapeutics Provides an Update on the PhaseOut DMD Trial Glyn Edwards of Summit Therapeutics discusses his company's Duchenne Muscular Dystrophy (DMD) program. DMD is one of the most common fatal genetic disorders diagnosed in children around the world. DMD is an X-linked disease meaning that it predominantly affects males and it results in the progressive wasting of muscles throughout the body. The disease has an estimated incidence of [--] in [----] and a patient population in the developed world of approximately [-----]. Approximately two thirds of new DMD cases are due to" [YouTube Link](https://youtube.com/watch?v=qWn6Cci1Wfg) 2018-02-18T14:49Z [----] followers, [--] engagements "Rett Syndrome Requires Multiple Specialists and Therapists Damian M. May PharmD MBA Senior Director Of Health Economics and Outcomes Research at Acadia Pharmaceuticals discusses the multidisciplinary approach to care needed for Rett syndrome. Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first [--] to [--] months of life followed by a developmental plateau and then rapid regression in language and motor skills. Common symptoms include hand-wringing; fits of screaming and" [YouTube Link](https://youtube.com/watch?v=qmaS1QIzVic) 2022-04-13T11:28Z [----] followers, [---] engagements "HDFN: Outcomes of Intrauterine Transfusion and Patient Experiences May Lee Tjoa PhD Senior Global Medical Affairs Leader: Nipocalimab and Maternal-Fetal Immunology at Johnson & Johnson discusses data on hemolytic disease of the fetus and newborn (HDFN) from the [----] ISUOG World Congress on Ultrasound in Obstetrics and Gynecology. HDFN is a rare condition characterized by the destruction of fetal red blood cells due to maternal-fetal blood group incompatibility. The condition may occur in persons with Rh or ABO blood types. Rh incompatibility usually affects subsequent pregnancies due to" [YouTube Link](https://youtube.com/watch?v=qsWbvPUDhUM) 2025-10-06T19:42Z [----] followers, [---] engagements "Finding Foods to Feed a Child with PKU Kala McWain mother of a child with phenylketonuria (PKU) talks about the disease and the challenges of finding and adhering to a very expensive diet. PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body that can lead to significant organ damage especially in the central nervous system. If left untreated individuals with PKU can develop chronic intellectual neurodevelopmental and psychiatric disabilities as well as seizures and heart problems." [YouTube Link](https://youtube.com/watch?v=sQxxxmKEGsA) 2022-08-19T14:51Z [----] followers, [----] engagements "Potential Market for Actinium's Iomab-B Sandesh Seth Executive Chairman of Actinium Pharmaceuticals discusses the potential market for Iomab-B. Iomab-B via the monoclonal antibody BC8 targets CD45 an antigen widely expressed on leukemia and lymphoma cancer cells B cells and stem cells. BC8 is linked to the radioisotope iodine-131 and once attached to its target cells emits energy that travels a relatively long distance destroying a patient's cancer cells and ablating their bone marrow. By carrying iodine-131 directly to the bone marrow in a targeted manner Actinium believes Iomab-B will avoid" [YouTube Link](https://youtube.com/watch?v=sfLXbt06MFI) 2017-03-31T18:13Z [----] followers, [---] engagements "Fibromuscular Dysplasia (FMD) Registry Jeffrey W Olin DO Professor of Medicine at the Icahn School of Medicine at Mount Sinai discusses the Fibromuscular Dysplasia Society of America (FMDSA) and it's FMD Registry. The goals of this registry are to identify patient characteristics associated with FMD potential markers of the disease and commonly used imaging and treatment modalities among others. Michigan Clinical Outcomes Research and Reporting Program (MCORRP) is the coordinating center for the FMD Registry. Beginning initially with [--] sites the first patient was entered into the online" [YouTube Link](https://youtube.com/watch?v=vJbmiyf9dmI) 2019-05-13T11:38Z [----] followers, [---] engagements "Conditioning Agent (JSP191) For Stem Cell Transplants Shows Promise in Patients With Fanconi Anemia Ronald Martell President and CEO of Jasper Therapeutics discusses the positive data from the ongoing phase 1/2 study testing JSP191 as a conditioning agent in the treatment of Fanconi anemia. These data were presented at the annual conference of the Inborn Errors Working Party (IEWP) Annual Conference [----]. Fanconi anemia is a rare blood disorder often associated with a progressive deficiency of all bone marrow production of blood cells red blood cells white blood cells and platelets. The" [YouTube Link](https://youtube.com/watch?v=wLq6o2JC0BE) 2022-10-22T14:42Z [----] followers, [---] engagements "Current and Emerging Therapies for PKU (Including SYNB1618) Jerry Vockley MD PhD Head of the Division of Medical Genetics at UPMC Childrens Hospital of Pittsburgh gives an overview of the treatment landscape for phenylketonuria (PKU) going further into detail about the mechanism of action of SYNB1618 an oral drug being investigated for treatment of this disease. PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body which can cause significant organ damage especially in the central" [YouTube Link](https://youtube.com/watch?v=wZfWhIQ1XHw) 2022-01-14T11:32Z [----] followers, [----] engagements "What Is Autosomal Dominant Polycystic Kidney Disease (ADPKD) Allen Davidoff PhD CEO of XORTX Therapeutics gives an overview of autosomal dominant polycystic kidney disease (ADPKD). As Dr. Davidoff explains ADPKD is a genetic disorder characterized by the formation of cysts in the kidneys. The most common symptoms hypertension flank pain hematuria and kidney insufficiency are caused by cyst formation. In most patients ADPKD leads to end-stage renal disease which requires either dialysis or a kidney transplant. ADPKD is caused by mutations of one of two genes responsible for proper function of" [YouTube Link](https://youtube.com/watch?v=yNRvE7wpi3I) 2023-02-20T18:38Z [----] followers, [---] engagements "Atumelnant for the Treatment of Congenital Adrenal Hyperplasia Alan Krasner MD Chief Endocrinologist at Crinetics Pharmaceuticals discusses atumelnant for the treatment of patients with congenital adrenal hyperplasia (CAH). CAH is a genetic condition characterized by an enzyme deficiency in the adrenal glands. This causes underproduction of cortisol and the overproduction of androgens. Symptoms may include ambiguous genitalia at birth dehydration poor feeding diarrhea vomiting and other health problems. People with milder forms may not be diagnosed with the condition until adolescence or" [YouTube Link](https://youtube.com/watch?v=yXyjQhheib0) 2025-08-22T16:17Z [----] followers, [---] engagements "Diagnosis and Treatment of IgA Nephropathy Jai Radhakrishnan MD Nephrologist and Professor at Columbia University Medical Center discusses diagnosis and treatment of IgA nephropathy (IgAN). IgAN is an autoimmune kidney disorder characterized by the settling of IgA protein in the kidneys. In most instances the cause of this condition is unknown; however certain disorders have been linked with IgAN such as cirrhosis of the liver celiac disease and HIV infection. Familial IgAN is linked to genetic material on the long arm of chromosome [--]. In the early stages IgAN has no symptoms making diagnosis" [YouTube Link](https://youtube.com/watch?v=zJ8MEV1tA5w) 2025-10-13T19:58Z [----] followers, [---] engagements "Promising Top-Line Results Testing Trofinetide to Treat Rett Syndrome Kathie Bishop PhD Chief Scientific Officer at Acadia Pharmaceuticals discusses the positive top-line results from the pivotal phase [--] Lavender trial testing the efficacy of trofinetide to treat Rett syndrome. Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first [--] to [--] months of life followed by a developmental plateau and then rapid regression in language and motor skills. Common symptoms include" [YouTube Link](https://youtube.com/watch?v=-0pEAIw-c7o) 2022-01-26T11:40Z [----] followers, [----] engagements "Alnylam's New RNAi Therapy Editor's Note: This interview was conducted at #Bio2018. Please pardon the background noise. Barry Greene President of Alnylam provides RNA interference (RNAi) and the first ever new class of innovative medicines to potentially enter the market this year. Specifically Patisiran is an investigational RNAi therapeutic targeting transthyretin (TTR) in development for the treatment of hereditary ATTR amyloidosis (hATTR amyloidosis). Patisiran is the only investigational medicine in our pipeline that utilizes a lipid nanoparticle (LNP) formulation and is administered via" [YouTube Link](https://youtube.com/watch?v=-S19IeB-JgM) 2018-08-03T12:26Z [----] followers, [---] engagements "Testing AOC [----] to Treat Myotonic Dystrophy Type [--] (DM1) Art Levin PhDdistinguished scientist and strategic leader and member of the companys board of directors at Avidity Biosciences discusses positive data from the preliminary assessment of the phase 1/2 MARINA trial of AOC [----] in patients with myotonic dystrophy type [--] (DM1). DM1 is a form of muscular dystrophy characterized by myotonia or the inability for muscles to relax as well as muscle weakness. Other common symptoms include respiratory problems fatigue hypersomnia cardiac abnormalities severe gastrointestinal complications and" [YouTube Link](https://youtube.com/watch?v=-fNIhnLluy8) 2023-03-08T22:14Z [----] followers, [---] engagements "New Therapeutic Technology Provides Hope for First-Ever Approved Treatment for FSHD Sarah Boyce President and CEO of Avidity Biosciences gives an overview of facioscapulohumeral muscular dystrophy (FSHD) and the technology her company is developing as a potential treatment for the disease. FSHD is a rare progressive musculoskeletal disease in which persons initially lose muscle strength in the face shoulders arms and trunk but later the disease progresses throughout the lower body. FSHD is due to the mis-expression of DUX4 in skeletal muscles. There are currently no approved treatments for" [YouTube Link](https://youtube.com/watch?v=02sJGzTa-hc) 2021-03-22T22:52Z [----] followers, [----] engagements "Alnylam Pharmaceuticals CMO Dr. Akshay Vaishnaw Explains RNAi Akshay Vaishnaw MD PhD is Chief Medical Officer at Alnylam Pharmaceuticals a company focused on RNA interference (RNAi) to develop new therapeutics for genetic conditions. At the BIO International Convention held in Philadelphia PA we talked to Dr Vaishnaw about the company and its RNAi technology. RNAi is a nature part of our cells. We currently have RNA segments that function to interfere or block the synthesis of certain proteins. These segments are called RNAi. Using that knowledge RNAi can also be used to interfere or block" [YouTube Link](https://youtube.com/watch?v=0l6XKlWbpwM) 2019-06-27T14:59Z [----] followers, [----] engagements "Current Treatment Options for Patients With Cushings Syndrome Mario Maldonado MD Head of Clinical Development for Global Endocrinology at Recordati Rare Diseases discusses current treatment options for patients with Cushings syndrome. Cushing's syndrome is a rare endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol. Signs and symptoms of Cushing's syndrome include upper body obesity fatigue muscle weakness high blood pressure backache high blood sugar easy bruising and bluish-red stretch marks on the skin. Affected women may also experience" [YouTube Link](https://youtube.com/watch?v=1Bedxx8jKiQ) 2024-07-08T16:35Z [----] followers, [----] engagements "Recordati Rare Disease Initiatives Mohamed Ladha President and General Manager for Recordati Rare Diseases North America discusses the companys rare disease initiatives. The U.S. branch of Recordati was established in [----] with a focus on products to treat patients with rare inherited metabolic disorders including NAGS deficiency cystinosis and acute intermittent porphyria. In [----] the company expanded into the endocrinology space with products for diseases such as acromegaly Cushings disease Cushings syndrome and Castleman disease. Most recently Recordati has added hematological conditions" [YouTube Link](https://youtube.com/watch?v=1UYOLdekWj0) 2025-08-22T16:07Z [----] followers, [---] engagements "Gene Therapy For Fabry Disease Targets the Heart Raphael Schiffmann MD of 4D Molecular Therapeutics discusses the cardiac effects of 4D-310 in adults with Fabry disease. Fabry disease is a rare lysosomal disorder that results in the buildup of globotriaosylceramide. Characteristic features of Fabry disease include acroparesthesias angiokeratomas hypohidrosis corneal opacity gastrointestinal problems tinnitus and hearing loss. Fabry disease also involves potentially life-threatening complications involving the heart and kidneys. 4D-310 uses a targeted and evolved AAV vector C102 to deliver a" [YouTube Link](https://youtube.com/watch?v=3KMY_T3q-Dg) 2023-03-08T15:31Z [----] followers, [---] engagements "Efficacy of Verkazia to Treat Rare Eye Infection (Vernal Keratoconjunctivitis) Sherif El-Harazi MD Ophthalmologist and Medical Director and Founder of Lugene Eye Institute and Global Research Management discusses cyclosporine ophthalmic emulsion 0.1% eye drops (Verkazia) which is now available in the United States for the treatment of vernal keratoconjunctivitis (VKC) in children and adults. VKC is a rare and recurrent allergic eye condition most common in children and adolescents that causes severe inflammation of the surface of the eye and may prevent those affected from participating in" [YouTube Link](https://youtube.com/watch?v=45YV1sFaz1E) 2022-05-12T10:01Z [----] followers, [----] engagements "Molecular Profiling Artificial Intelligence and The Precision Oncology Alliance Chadi Nabhan MD of Caris Life Sciences summarizes the Caris Precision Oncology Alliance and some of the abstracts the alliance presented at ASCO [----]. The Precision Oncology Alliance includes partnerships with [--] cancer centers and academic institutions. Working with Caris Life Sciences a company that brings together molecular profiling and artificial intelligence to advance precision medicine the alliance was very active at the recent ASCO conference held in Chicago. As noted by Dr. Nabhan numerous abstracts were" [YouTube Link](https://youtube.com/watch?v=4RB7n4nrOk8) 2023-06-22T14:53Z [----] followers, [---] engagements "The Bespoke Gene Therapy Consortium P.J. Brooks PhD Acting Director of the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences (NCATS) describes the Bespoke Gene Therapy Consortium (BGTC). BGTC program is a private-public initiative that is designed to bring together researchers from different perspectives interests and expertise to create gene therapies for rare diseases that otherwise would be not financial viable. As Dr. Brooks explains very few rare diseases have FDA-approved treatments despite the fact that the majority of them are caused by known" [YouTube Link](https://youtube.com/watch?v=4msOfnAUArM) 2022-11-30T11:28Z [----] followers, [---] engagements "Ipsen Biopharmaceuticals Patient-Focused Approach to Rare Diseases Stephanie Brown the SVP of rare diseases at Ipsen Biopharmaceuticals describes the companys commitment to working closely with patients to better understand their conditions. Rare disease is a unique space and we really get to know patients directly Brown said. We really try to understand what its like to walk in their shoes. Ipsen develops and markets medications used in oncology neuroscience and rare diseases as well as consumer healthcare products" [YouTube Link](https://youtube.com/watch?v=5_zXVrj98_w) 2021-01-21T10:59Z [----] followers, [---] engagements "Lysosomal Disorders and the Brain Ozlem Goker-Alpan MD Founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Raphael Schiffmann MD of the Texas Christian University discuss best practices to identify and treat neurologic problems associated with lysosomal disorders. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC) CheckRare CE and AffinityCE. This activity provides continuing education credit for physicians physician assistants nurses nurse practitioners and" [YouTube Link](https://youtube.com/watch?v=5x1rre5T_sM) 2025-10-14T11:16Z [----] followers, [---] engagements "Long-Term Efficacy and Safety of Cilta-Cel in Patients With Relapsed/Refractory Multiple Myeloma Ying Huang PhD CEO of Legend Biotech discusses updated results from the CARTIFAN-1 study evaluating cilta-cel in patients in China with relapsed/refractory multiple myeloma who have received [--] prior lines of therapy. These data were recently presented at the American Society of Hematology Meeting & Exposition (ASH 2022). Multiple myeloma is a blood cancer associated with uncontrolled growth of plasma cells. Abnormal plasma cells also known as myeloma cells interfere with the production of healthy" [YouTube Link](https://youtube.com/watch?v=6cG0FB_0JX8) 2022-12-23T12:23Z [----] followers, [---] engagements "The Typical Diagnostic Journey for FSHD Patients Sarah Boyce President and CEO of Avidity Biosciences describes the common diagnostic process of an individual with facioscapulohumeral muscular dystrophy (FSHD). FSHD is a rare progressive musculoskeletal disease in which persons initially lose muscle strength in the face shoulders arms and trunk but later the disease progresses throughout the lower body. FSHD is due to the mis-expression of DUX4 in skeletal muscles. There are currently no approved treatments for the disease. As Ms. Boyce explains geneticists may be involved in the diagnostic" [YouTube Link](https://youtube.com/watch?v=79HtPmUaaQw) 2021-03-29T18:44Z [----] followers, [----] engagements "Current Clinical Trials For MPS I and II Mathias Schmidt PhD President and Chief Executive Officer of JCR USA describes their current clinical trials for patients with mucopolysaccharidosis (MPS) I and II. Mucopolysaccharidoses (MPSs) are a group of rare genetic lysosomal storage diseases. The disease is caused by an absence or malfunctioning of enzymes required to break down carbohydrates into proteins and simpler molecules. Over time these glycosaminoglycans collect in the cells blood brain and spinal cord and connective tissues. The result is permanent progressive cellular damage that" [YouTube Link](https://youtube.com/watch?v=7MsBtLkOHdo) 2024-03-04T16:31Z [----] followers, [---] engagements "Why a Clinical Hold Put on Gene Therapy for Fabry Disease Raphael Schiffmann MD of 4D Molecular Therapeutics. Schiffmann discusses why the US Food and Drug Administration (FDA) put a hold on a phase [--] / [--] clinical trial testing 4D-310 a gene therapy in development that targets the heart in Fabry disease. Fabry disease is an inherited disorder that results from the buildup of globotriaosylceramide or GL-3. The disorder affects many parts of the body. Signs and symptoms may include acroparesthesias angiokeratomas hypohidrosis corneal opacity and hearing loss. Potentially severe complications" [YouTube Link](https://youtube.com/watch?v=7X1p0YTlnbo) 2023-03-08T16:25Z [----] followers, [---] engagements "RNA-based Therapy for Dravet Syndrome Ann Barbier MD PhD Chief Medical Officer at CAMP4 Therapeutics discusses CAMP4s investigational RNA-based therapy for Dravet syndrome CMP-SCN (CO-3527). Dravet syndrome is a rare neurological condition that usually appears during the first year of life as frequent febrile seizures. As the condition progresses other types of seizures typically occur including myoclonus and status epilepticus. Moderate to severe cognitive impairment is also common. Most cases of Dravet syndrome occur due to a mutation of the SCN1A gene. It can be inherited in an autosomal" [YouTube Link](https://youtube.com/watch?v=7_QlrudwZdc) 2022-06-10T10:40Z [----] followers, [---] engagements "Ipsens Current Rare Disease Therapies: Approved and In Development Christelle Huguet PhD Head of Research and Development at Ipsen discusses the companys current approved orphan drugs and those in development for rare diseases. Ipsens work in the rare disease space aims to address areas of high unmet medical needs; such as in disease spaces where current standard of care falls short or in spaces where no therapy currently exists. Three such diseases are fibrodysplasia ossificans progressiva (FOP) and rare liver conditions such as primary biliary cholangitis (PBC) and progressive familial" [YouTube Link](https://youtube.com/watch?v=8lzSUFETVYs) 2025-10-17T20:08Z [----] followers, [---] engagements "Gene Therapy Trials for Gaucher Type [--] and Type [--] Now Recruiting Aimee Donald MBChB PhD Pediatrician at Royal Manchester Children's Hospital and Professor at the University of Manchester discusses the PROCEED and PROVIDE gene therapy trials testing PR001 in Gaucher disease patients. Gaucher disease is a rare lysosomal disorder due to reduced levels of glucocerebrosidase that leads to the accumulation of glucocerebroside in cells and certain organs. There are three types of Gaucher disease type [--] [--] and [--]. Gaucher disease type [--] mostly impacts the periphery. Gaucher disease type [--] impacts both" [YouTube Link](https://youtube.com/watch?v=9S9B_6b6k9w) 2023-04-05T16:59Z [----] followers, [---] engagements "Its Constant Loss: FSHD Patient Talks about Her Struggles with the Disease As Amy explains in the second part of the interview due to the progressive nature of the disease she has lost the ability to enjoy many of the hobbies she loved such as golfing and painting - both of which she was incredibly good at. This Amy claims is the hardest part of FSHD; the loss of function which is directly paired with a loss of quality of life. To learn more about FSHD and other rare musculoskeletal diseases visit checkrare.com/diseases/musculoskeletal-diseases/ Amy Bekier facioscapulohumeral muscular" [YouTube Link](https://youtube.com/watch?v=ACqixOqYbsg) 2021-03-29T17:14Z [----] followers, [---] engagements "Clinical Research and Finding a Cure for Duchenne Muscular Dystrophy Debra Miller co-founder of CureDuchenne discusses some of the current clinical research in Duchenne muscular dystrophy (DMD) and the hope of a possible cure. Debra founded CureDuchenne in [----] with her husband after their only son was diagnosed with Duchenne. The funds CureDuchenne raises support tresearch programs aimed at treating and curing the disease. CheckRare CheckOprhan Debra Miller CureDuchenne clinical trials rDuchenne Muscular Dystropy DMD CheckRare CheckOprhan Debra Miller CureDuchenne clinical trials rDuchenne" [YouTube Link](https://youtube.com/watch?v=BfeMoYxsBGM) 2019-05-20T10:44Z [----] followers, [----] engagements "Clinical Trials Testing Osilodrostat for the Treatment of Cushings Disease Maria Fleseriu MD Director of the Pituitary Center at Oregon Health and Science University discusses clinical trials testing osilodrostat for the treatment of Cushings disease. Cushings disease is a rare condition characterized by elevated levels of the cortisol hormone secreted by a tumor in the pituitary gland. It is characterized by signs and symptoms that may include: - Weight gain around the trunk and in the face - Stretch marks - Easy bruising - A hump on the upper back - Muscle weakness - Tiredness - Thin bones" [YouTube Link](https://youtube.com/watch?v=BoD73qCfGnA) 2024-07-12T20:05Z [----] followers, [---] engagements "Still's Disease Clinical Trial Len Walt Vice President Head of Medical Affairs Sobi in North America discusses his company's clinical trial testing anakinra in Still's disease a rare inflammatory disorder. Still's disease a disorder featuring inflammation is characterized by high spiking fevers salmon-colored rash that comes and goes and arthritis. Still's disease is also referred to as systemic-onset juvenile idiopathic arthritis. Still's disease was first described in children but it is now known to occur much less commonly in adults (in whom it is referred to as adult-onset Still's disease" [YouTube Link](https://youtube.com/watch?v=BzROHVDdKaw) 2017-10-23T21:31Z [----] followers, [---] engagements "Results From the Phase 1/2 Trial Testing AOC [----] to Treat Myotonic Dystrophy Type [--] Nicholas E. Johnson MD Associate Professor in the Department of Neurology at Virginia Commonwealth University summarizes data from the phase 1/2 MARINA trial testing AOC [----] in patients with myotonic dystrophy type [--] (DM1). DM1 is a progressive neuromuscular disease caused by a triplet repeat in the DMPK gene. That repetition leads to toxic levels of gain of function mRNA. Currently there are no approved treatments for DM1. Symptoms and severity are highly variable among patients however all forms of DM1 are" [YouTube Link](https://youtube.com/watch?v=CfdargcCzWE) 2023-05-30T14:22Z [----] followers, [---] engagements "PH1 Community Still Excited One Year After the Approval of Lumasiran Jeroen Valkenburg General Manager of the Lumasiran program at Alnylam Pharmaceuticals discusses the reaction of the primary hyperoxaluria type [--] (PH1) community following the approval of lumasiran last November. PH1 is a rare genetic condition that is often difficult to diagnose since its main symptom is the development of kidney stones. These rare type of kidney stones are formed due to the build up of oxalate which normally is filtered through the kidneys and excreted. PH1 is due to mutations in the AGXT gene. As Mr." [YouTube Link](https://youtube.com/watch?v=DOuAbbA9XUQ) 2021-12-02T11:36Z [----] followers, [---] engagements "Updated Data from CARTITUDE-1 and CARTITUDE-2 Studies Testing Cilta-Cel in R/R Multiple Myeloma Ying Huang PhD CEO of Legend Biotech discusses updated results from the CARTITUDE-1 study and data from two cohorts in the CARTITUDE-2 study. Both of these studies are evaluating cilta-cel in patients with relapsed/refractory multiple myeloma. These data were recently presented at the American Society of Hematology Meeting & Exposition (ASH 2022). Multiple myeloma is a blood cancer associated with uncontrolled growth of plasma cells. Symptoms of multiple myeloma may include: bone pain (particularly" [YouTube Link](https://youtube.com/watch?v=Dk20qyAKbE4) 2023-01-09T17:24Z [----] followers, [---] engagements "Recordatis Presentations at ENDO [----] Mario Maldonado MD Global Head of Clinical Development for Endocrinology at Recordati Rare Diseases discusses Recordatis presentations at ENDO [----]. LINC6 Clinical Trial LINC [--] is an ongoing prospective observational study evaluating the long-term safety and efficacy of osilodrostat over [--] years in [---] adult patients with Cushings disease (CD) and non-pituitary Cushings syndrome (non-PCS). Osilodrostat is a potent 11-hydroxylase inhibitor. Results were presented from a [--] year interim analysis. Treatment-related adverse events were reported [--] times in 34" [YouTube Link](https://youtube.com/watch?v=EYuslfQtuLE) 2025-08-22T16:21Z [----] followers, [---] engagements "Atacicept Shows Promise as IgA Nephropathy Treatment Jonathan Barratt PhD FRCP Professor of Renal Medicine University of Leicester UK describes the latest results of a phase 2b trial examining atacicept to treat immunoglobulin A (IgA) nephropathy. IgA nephropathy is a rare kidney disease characterized by build-up of IgA deposits. This buildup causes inflammation and damage to the glomeruli which in turn causes hematuria and proteinuria. This damage may lead to scarring of the nephrons which progresses slowly over many years. Eventually IgA nephropathy can lead to end-stage kidney disease. As" [YouTube Link](https://youtube.com/watch?v=Eee2TCe-rSg) 2023-03-08T19:12Z [----] followers, [----] engagements "How Alnylam Works with Patient Advocacy Groups Editor's Note: This interview was conducted at #Bio2018. Please pardon the background noise. Barry Greene President of Alnylam discusses how his company works with advocacy groups in the diseases they are committed to. CheckRare CheckOrphan Alnylam Barry Greene Inclisiran Givosiran Patisiran CheckRare CheckOrphan Alnylam Barry Greene Inclisiran Givosiran Patisiran" [YouTube Link](https://youtube.com/watch?v=F1ZbFnnOX2s) 2018-08-15T11:48Z [----] followers, [--] engagements "FSHD Patient Encourages Others to Get Involved with Patient Advocacy Groups Amy Bekier facioscapulohumeral muscular dystrophy (FSHD) patient and Board Member of the FSHD Society advises patients to get involved with FSHD patient advocacy groups. FSHD is a rare progressive musculoskeletal disease in which persons initially lose muscle strength in the face shoulders arms and trunk but later the disease progresses throughout the lower body. FSHD is due to the mis-expression of DUX4 in skeletal muscles. There are currently no approved treatments for the disease. The FSHD Society is the worlds" [YouTube Link](https://youtube.com/watch?v=HFDxepv0688) 2021-04-12T16:04Z [----] followers, [--] engagements "The Prevalence of ENPP1 Deficiency Mark Kiel MD PhD chief science officer at Genomenon and Catherine Nester BSN VP of Physician and Patient Strategies at Inozyme Pharma discuss the prevalence of Ectonucleotide pyrophosphatase/ phosphodiesterase [--] (ENPP1) Deficiency. ENPP1 is an enzyme involved in the cleavage of ectonucleotides. When a person is deficient in this enzyme it can lead to a plethora of metabolic concerns. . Babies who present in utero or in infancy are typically diagnosed with generalized arterial calcification of infancy. Approximately half of infants with ENPP1 Deficiency die" [YouTube Link](https://youtube.com/watch?v=HPlsq5F62hU) 2023-02-06T16:20Z [----] followers, [---] engagements "Mechanism of Action of PLN-74809 to Treat Idiopathic Pulmonary Fibrosis (IPF) Eric LeFebvre MD Chief Medical Officer at Pliant Therapeutics describes the mechanism of action of PLN-74809 an orphan drug in development for treating patients with idiopathic pulmonary fibrosis (IPF). IPF is a chronic progressive fibrosing lung disease with few treatment options and a poor prognosis. Common symptoms of IPF include shortness of breath and difficulty performing daily activities such as walking and talking. Currently there is no pharmacological cure for IPF with neither of the approved two therapies" [YouTube Link](https://youtube.com/watch?v=HyKpDC169WU) 2022-09-06T10:49Z [----] followers, [---] engagements "PTC Therapeutics Company Overview Mark Pykett PhD Chief Scientific Officer at PTC Therapeutics provides an overview of his company including its focus on rare diseases. Mark leads the research initiatives of PTC. Before joining the company in August [----] Mark held a number of executive positions including president and CEO of Agilis Biotherapeutics CEO of Navidea Biopharmaceuticals and president and CEO of Alseres Pharmaceuticals among others. Mark Pykett PTC Therapeutics CheckRare CheckOrphan rare diseases Duchenne DMD Mark Pykett PTC Therapeutics CheckRare CheckOrphan rare diseases Duchenne" [YouTube Link](https://youtube.com/watch?v=Ial4vkcqePE) 2019-05-24T11:05Z [----] followers, [----] engagements "Patients as the Center of the Drug Development Process Dr. John Maraganore CEO of Alnylam Pharmaceuticals discusses how patients have become central to the drug development process. CheckRare CheckOrphan Dr. John Maraganore Alnylam Pharma RNAi CheckRare CheckOrphan Dr. John Maraganore Alnylam Pharma RNAi" [YouTube Link](https://youtube.com/watch?v=Jlxemk65rR0) 2018-04-20T12:23Z [----] followers, [--] engagements "Catalyst Biosciences: Developing Novel Medicines to Address Hematology Indications Nassim Usman PhD President and Chief Executive Officer of Catalyst Biosciences provides an overview of his company and its focus on protease-based therapeutic candidates. Catalyst is a clinical-stage biopharmaceutical company developing novel medicines to address hematology indications. Catalyst is focused on the field of hemostasis including the subcutaneous prophylaxis of hemophilia and facilitating surgery in individuals with hemophilia. CheckRare CheckOrphan Nassim Usman PhD Catalyst Biosciences hemophilia" [YouTube Link](https://youtube.com/watch?v=JmMtnWY1LVE) 2019-02-15T17:50Z [----] followers, [---] engagements "Initiation of Biomarker Cohort in Clinical Trial for Facioscapulohumeral Muscular Dystrophy Steve Hughes MD Chief Medical Officer of Avidity Biosciences discusses the initiation of a biomarker cohort in the Phase 1/2 FORTITUDE trial of delpacibart braxlosiran (del-brax) in patients with facioscapulohumeral muscular dystrophy (FSHD). FSHD is a disorder characterized by muscle weakness and atrophy. This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-) shoulder blades (scapulo-) and upper arms (humeral). The signs and symptoms of FSHD" [YouTube Link](https://youtube.com/watch?v=K_pfY0PqoHA) 2024-11-25T16:53Z [----] followers, [---] engagements "Alnylam Pipeline: Fitusiran and Inclisiran Pushkal Garg MD Chief Medical Officer at Alnylam discusses two of his company's pipeline products: fitusiran (for hemophilia and other rare bleeding disorders) and inclisiran (for hypercholesterolemia). Fitusiran is an investigational once-monthly subcutaneously administered RNAi therapeutic targeting antithrombin (AT) in development for the treatment of hemophilia A and B with and without inhibitors. Fitusiran also has the potential to be used for rare bleeding disorders. Fitusiran is designed to lower levels of AT with the goal of promoting" [YouTube Link](https://youtube.com/watch?v=M9oHMiUMIyg) 2019-02-08T15:37Z [----] followers, [---] engagements "Fragile X Syndrome Overview and the CONNECT-FX Clinical Trial Armando Anido Chief Executive Officer at Zynerba Pharmaceuticals discusses Fragile X syndrome a genetic condition involving changes in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. Fragile X syndrome is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. Other signs and symptoms may include symptoms of autism spectrum disorders seizures and characteristic" [YouTube Link](https://youtube.com/watch?v=MQ9yplNwm3A) 2019-02-16T12:50Z [----] followers, [---] engagements "Gene Therapy Clinical Trial: Promising Results for Pompe Disease Dwight Koeberl MD PhD of Duke University School of Medicine provides an update on the phase [--] study of gene therapy to treat late-onset Pompe disease. As Dr. Koebel explains in this video the preliminary results in the low-dose cohort show the gene therapy to be safe and that all three patients were able to stop taking enzyme replacement therapy after being treated with gene therapy. The gene therapy known as ACTUS [---] uses the adeno-associated virus (AAV) that specifically targets the liver to promote the production of acid" [YouTube Link](https://youtube.com/watch?v=NDzxy17Evsw) 2020-02-13T07:28Z [----] followers, [----] engagements "Givosiran to Treat Acute Hepatic Porphyria Recently we talked with Akshay Vaishnaw MD PhD is Chief Medical Officer at Alnylam Pharmaceuticals about their RNA interference (RNAi) drug givosiran that targets aminolevulinic acid synthase [--] (ALAS1) to treat acute hepatic porphyria. Acute hepatic porphyria is a group of rare genetic diseases that results in the accumulation of neurotoxic heme intermediates aminolevulinic acid (ALA) and porphobilinogen (PBG) in the liver. Common symptoms include severe diffuse abdominal pain weakness nausea and fatigue. Long-term complications of acute hepatic" [YouTube Link](https://youtube.com/watch?v=OIMnnkd9-Yg) 2019-07-23T10:31Z [----] followers, [----] engagements "Dr. Pushkal Garg Discusses Alnylam's Rare Disease Day Initiatives Pushkal Garg MD Chief Medical Officer at Alnylam provides an overview of two of his company's initatives which will be highlighted this month and on Rare Disease Day: Alnylam Act and Advocacy for Impact. The Alnylam Act Alnylam offers genetic testing at no charge for individuals who may carry a gene mutation known to be associated with hereditary ATTR (hATTR) amyloidosis. The Alnylam Act program was developed to reduce barriers to genetic testing and counseling to help people make more informed decisions about their health. The" [YouTube Link](https://youtube.com/watch?v=OXCIv059fK4) 2019-02-09T14:24Z [----] followers, [---] engagements "Safety and Efficacy of PLN-74809 to Treat Idiopathic Pulmonary Fibrosis Eric LeFebvre MD Chief Medical Officer at Pliant Therapeutics discusses positive safety and efficacy data from the phase 2a INTEGRIS-IPF clinical trial of PLN-74809 in patients with idiopathic pulmonary fibrosis (IPF). IPF is a chronic progressive fibrosing lung disease with few treatment options and a poor prognosis. Common symptoms of IPF include shortness of breath and difficulty performing daily activities such as walking and talking. Currently there is no pharmacological cure for IPF with neither of the approved two" [YouTube Link](https://youtube.com/watch?v=OqIiVh9eOpQ) 2022-07-19T10:44Z [----] followers, [----] engagements "Friedreichs Ataxia Clinical Trial Likely to Begin Next Year R. Nolan Townsend Chief Executive Officer of Lexeo Therapeutics discusses the Rare Pediatric Disease designation and Orphan Drug designation granted to LX2006 for the treatment of cardiomyopathy associated with Friedreichs ataxia. Friedreichs ataxia is a degenerative neuromuscular disorder caused by mutations in the FXN gene which reduces the production of frataxin a protein important for proper mitochondrial functions. The onset of symptoms varies greatly among patients but generally occurs between the ages of [--] to [--] years. Some of" [YouTube Link](https://youtube.com/watch?v=OutMXaBHksc) 2021-08-20T04:55Z [----] followers, [---] engagements "Acromegaly Research Highlights: ENDO [----] This 30-minute CME program highlights the latest clinical research about acromegaly a rare endocrine disorder. Activity Faculty Wenyu Huang MD PhD Associate Professor Northwestern University Feinberg School of Medicine Chicago IL Support for this accredited continuing education activity has been made possible through educational grants from Recordati Rare Diseases Inc. and Ipsen Biopharmaceuticals Inc. To earn a CME credit go to https://checkrare.com/learning/p-acromegaly-research-highlights-endo-2023/ Estimated time to complete: [---] hours Start date:" [YouTube Link](https://youtube.com/watch?v=P-Oh64O9Zlk) 2025-10-06T15:06Z [----] followers, [---] engagements "Alnylam Overview Editor's Note: This interview was conducted at #Bio2018. Please pardon the background noise. Barry Greene President of Alnylam joined the company in [----] and has more than [--] years of experience in healthcare pharmaceutical and biotechnology industries. In this video Barry provides an overview of his company and the science of RNA interference (RNAi) which represents a completely new approach to drug discovery and development. The [----] Nobel Prize for Physiology or Medicine awarded to Craig Mello and Andrew Fire recognized the importance of RNAi as a major scientific" [YouTube Link](https://youtube.com/watch?v=Rh4pcfQWJBQ) 2018-08-08T11:31Z [----] followers, [---] engagements "Open-Label Extension Data of Del-Zota for Patients With Duchenne Muscular Dystrophy Mike Flanagan PhD Chief Scientific Officer at Avidity Biosciences discusses new data from the EXPLORE44 open-label extension of del-zota for treatment of patients with Duchenne muscular dystrophy (DMD) amenable to exon [--] skipping. DMD affects the muscles leading to progressive muscle wasting. DMD occurs primarily in males though in rare cases may affect females. The symptoms of DMD include progressive weakness and atrophy of both skeletal and heart muscle. Early signs may include delayed ability to sit stand" [YouTube Link](https://youtube.com/watch?v=Sh5BLAxwb0g) 2025-10-02T19:26Z [----] followers, [---] engagements "Efficacy and Safety of Pabinafusp-Alfa in MPS-II (Hunter Syndrome) Mathias Schmidt PhD President and CEO of JCR Pharmaceuticals USA discusses long-term efficacy and safety data of pabinafusp-alfa in mucopolysaccharidosis type II (MPS II; Hunter syndrome). Data from this study was recently presented at WORLDSymposium [----]. MPS II is a rare progressive lysosomal disease caused by deficient activity of iduronate-2-sulfatase attributable to pathogenic variants of the iduronate-2-sulfatase gene (IDS). This disease has a variable clinical presentation but common signs and symptoms include:" [YouTube Link](https://youtube.com/watch?v=TYWxG59BRPw) 2022-03-23T12:28Z [----] followers, [---] engagements "SOBI Overview at ASH: Data from Phase 2/3 Clinical Study of Emapalumab-lzsg in Primary HLH Rami Levin President of North America for Swedish Orphan Biovitrum (SOBI) discusses his company's recent FDA approval Sobis commitment to the rare disease community and how Sobi is growing its presence in North America. We sat down with Rami Levin at this year's American Society of Hematology (ASH) conference where SOBI and Novimmune SA presented data from the pivotal phase 2/3 clinical study of emapalumab-lzsg in primary haemophagocytic lymphohistiocytosis (HLH). Primary HLH is an aggressive" [YouTube Link](https://youtube.com/watch?v=VJdnVLq6tXg) 2018-12-23T12:15Z [----] followers, [---] engagements "What Is ENPP1 Deficiency Axel Bolte MSc MBA Co-Founder President and Chief Executive Officer Inozyme Pharmaceuticals gives an overview of ENPP1 deficiency. The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase [--] (ENPP1) which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating normal bone mineralization. Individuals who present in utero or in infancy are typically diagnosed with generalized arterial calcification of infancy (GACI) which is characterized by" [YouTube Link](https://youtube.com/watch?v=WSW8Y7KY4Rk) 2022-04-25T18:25Z [----] followers, [---] engagements "Glyn Edwards of Summit Therapeutics Discusses Partnerships Glyn Edwards of Summit Therapeutics discusses his company's partnerships with the Duchenne muscular dystrophy (DMD) community and with Sarepta Therapeutics. DMD is one of the most common fatal genetic disorders diagnosed in children around the world. DMD is an X-linked disease meaning that it predominantly affects males and it results in the progressive wasting of muscles throughout the body. The disease has an estimated incidence of [--] in [----] and a patient population in the developed world of approximately [-----]. Approximately two" [YouTube Link](https://youtube.com/watch?v=WiK5qFBg6ro) 2018-04-09T23:39Z [----] followers, [--] engagements "Gene Therapy Platform Designed to Target the Heart in Fabry Disease Raphael Schiffmann MD of 4D Molecular Therapeutics. Schiffmann discusses the mechanism of action of 4D-310 a gene therapy in development that targets the heart in Fabry disease. Fabry disease is a rare genetic disorder that results in the buildup of globotriaosylceramide. Characteristic symptoms of Fabry disease include acroparesthesias angiokeratomas hypohidrosis corneal opacity gastrointestinal problems tinnitus and hearing loss. Fabry disease also involves potentially life-threatening complications involving the heart and" [YouTube Link](https://youtube.com/watch?v=WlxrmoUATWg) 2023-03-08T15:59Z [----] followers, [--] engagements "Positive Data from Regenxbios Gene Therapy Trials for MPS I and MPS II Steve Pakola MD Chief Medical Officer for Regenxbio discusses data from the ongoing gene therapy trials in children with mucopolysaccharidosis type I (MPS I) and mucopolysaccharidosis type II (MPS II). The data was presented at WORLDSymposium [----]. MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme alpha-L-iduronidase which is responsible for breaking down glycosaminoglycans (GAGs). These GAGs accumulate in the tissues of MPS I patients resulting in a diverse clinical profile. In moderate" [YouTube Link](https://youtube.com/watch?v=XAlt9aa4EUA) 2025-10-06T16:17Z [----] followers, [--] engagements "Alnylam Overview and it's Focus on RNA Interference Pushkal Garg MD Chief Medical Officer at Alnylam provides an overview of his company and its focus on RNA interference (RNAi). This new class of innovative medicines has the potential to transform the lives of patients who have limited or inadequate treatment options. RNAi is based on Nobel Prize-winning science and has the potential for treatments of a wide range of debilitating diseases with unmet medical need" [YouTube Link](https://youtube.com/watch?v=XNZZv87bsrw) 2019-02-27T21:32Z [----] followers, [---] engagements "Mechanism of Action of Momelotinib to Treat Myelofibrosis Srdan Verstovsek MD PhD Medical Oncologist and Professor in the Department of Leukemia at the University of Texas MD Anderson Cancer Center discusses the mechanism of action of momelotinib a JAK-inhibitor being investigated as a treatment for myelofibrosis. Myelofibrosis is a rare cancer characterized by extensive scarring of the bone marrow and the disruption of normal blood cells production. This leads to severe anemia that can cause weakness and fatigue. Bone marrow scarring can also lead to low platelet levels which increases the" [YouTube Link](https://youtube.com/watch?v=YwO15b7MwA8) 2022-02-22T11:41Z [----] followers, [---] engagements "Artificial Intelligence and Diagnosing Rare Cancers Milan Radovich Ph.D. Chief Scientific Officer at Caris Life Sciences discussed the use of artificial intelligence (AI) to improve the diagnosis of different cancer patients. As noted by Dr. Radovich each patient with their imaging data electronic health records exome sequencing data etc can lead to a level of data that is too large for a person to comprehend (e.g. a petabyte of data). Fortunately we are entering a phase where powerful computing technology power sequencing technology and the implementation of AI algorithms are emerging to" [YouTube Link](https://youtube.com/watch?v=ZSJV0ayuqRg) 2023-06-11T00:12Z [----] followers, [--] engagements "Current Issues in Gene Therapies for Lysosomal Disorders Shunji Tomatsu MD PhD Professor and Head Nemours Childrens Health Delaware USA; Alessandra dAzzo PhD Emerita Faculty Genetics St. Jude Childrens Research Hospital Tennessee USA; Merve Emecen Sanli MD Associate Professor Department of Pediatrics University of Texas Southwestern Medical Center Texas USA; and Ryan Colburn patient with Pompe disease and president of Odimm Inc discuss new and emerging gene therapies for lysosomal disorders. This continuing education activity is provided through collaboration between the Lysosomal and Rare" [YouTube Link](https://youtube.com/watch?v=Zt1zLcTLayE) 2025-12-31T18:50Z [----] followers, [---] engagements "Dr. John Maraganore CEO of Alnylam Pharma Discusses Henri Termeer Dr. John Maraganore has served as the CEO and a Director of Alnylam since [----]. In this clip he discusses Henri A. Termeer. Mr Termeer was a former Chairman President and CEO of Genzyme Corporation for nearly three decades prior to its acquisition by the French drug maker Sanofi. Henri unexpectedly passed away on May [--] [----] at the age of [--]. He was known for his service to the rare disease community and his unsurpassed entrepreneurial leadership that spurred the rise of an industry dedicated to innovative treatments for orphan" [YouTube Link](https://youtube.com/watch?v=_VrOTBY8P0w) 2018-03-01T19:17Z [----] followers, [---] engagements "ZYN002: Being Evaluated for Fragile X Syndrome Armando Anido Chief Executive Officer at Zynerba Pharmaceuticals discusses his company's lead product candidate ZYN002 a CBD gel currently being evaluated for Fragile X syndrome. ZTN002 is a pharmaceutically-produced CBD a non-euphoric cannabinoid formulated as a patent-protected permeation-enhanced gel for transdermal delivery through the skin and into the circulatory system. ZYN002 is being developed for patients suffering from Fragile X syndrome ASD in pediatric patients 22q and a heterogeneous group of rare and ultra-rare epilepsies known as" [YouTube Link](https://youtube.com/watch?v=bCgj7-0vpZ8) 2019-02-27T21:32Z [----] followers, [---] engagements "OLD: The Promise of Gene Therapy and the Challenges of Payment Structures Jeff Ajer Executive Vice President and Chief Commercial Officer of BioMarin discusses gene therapy. The development of these transformative therapies has triggered discussions about market access challenges the viability of alternative financing mechanisms and the results for patient access. In this video Mr. Ajer suggests that BioMarin will offer alternative funding mechanisms and payment structures. While gene therapies hold the promise of substantial benefits some patients may face barriers accessing them. CheckRare" [YouTube Link](https://youtube.com/watch?v=c1gpPWJEmcc) 2019-04-13T19:16Z [----] followers, [--] engagements "Update on Patisiran to Treat Hereditary ATTR At the BIO International Convention held in Philadelphia PA we talked with Akshay Vaishnaw MD PhD Chief Medical Officer at Alnylam Pharmaceuticals about the companys approved RNA interference (RNAi) drug Patisiran to treat to hereditary transthyretin-mediated amyloidosis (ATTR). Dr. Vaishnaw said Hereditary ATTR is caused by a mutated gene that gives rise to a mutant TTR messenger RNA in the liver cell that gives rise to mutant transthyretin protein that comes out of the liver cell circulates in the blood and deposits in the heart and the nerves." [YouTube Link](https://youtube.com/watch?v=cSCE6oF7ntE) 2019-07-08T13:51Z [----] followers, [---] engagements "Efficacy of Nefecon to Treat IgA Nephropathy Richard Lafayette MD FACP Director of the Stanford Glomerular Disease Center and Rheumatologist at Stanford Health Care describes the latest clinical trial assessing Nefecon (budesonide delayed-release capsules) to treat immunoglobulin A (IgA) nephropathy. IgA nephropathy (Bergers disease) is a rare kidney disease characterized by the accumulation of IgA deposits in the kidneys. The buildup of IgA deposits inflames and damages the glomeruli causing hematuria and proteinuria. This damage may lead to scarring of the nephrons which progresses slowly" [YouTube Link](https://youtube.com/watch?v=efyKF29SduI) 2023-07-19T01:44Z [----] followers, [----] engagements "Autism Spectrum Disorder Armando Anido Chief Executive Officer at Zynerba Pharmaceuticals discusses Autism Spectrum Disorder (ASD) a developmental disorder that affects communication and behavior. Zynerba is pursuing new therapeutic options for ASD and other neuropsychiatric conditions. Autism Spectrum Disorder refers to a range of conditions characterized by anxiety repetitive patterns of behavior impairments in social communication including verbal and non-verbal communication and deficits in developing and maintaining relationships. Although autism can be diagnosed at any age it is said to" [YouTube Link](https://youtube.com/watch?v=egC3cO1_bcU) 2019-02-27T21:31Z [----] followers, [---] engagements "ENPP1 and ABCC6 Deficiency Overviews Doug Treco PhD CEO of Inozyme Pharma provides an overview of ENPP1 Deficiency and ABCC6 Deficiency. ENPP1 Deficiency is a rare metabolic disease caused by mutations in the ENPP1 enzyme. This enzyme is responsible for the cleavage of ectonucleotides that prevent mineralization. In ENPP1 Deficiency calcium phosphate precipitates throughout the body accumulating in the wrong places such as blood vessels skin eyes joints and tendons. As Dr. Treco explains this is due to low levels of pyrophosphate and ATP production. Pyrophosphate is also essential in the" [YouTube Link](https://youtube.com/watch?v=fBzkHOB6ZcM) 2024-05-08T17:36Z [----] followers, [---] engagements "Unmet Needs of Patients With Cushings Syndrome Alessandro Albuquerque MD PhD Chief Medical Officer of Recordati Rare Diseases North America discusses unmet needs of patients with Cushings syndrome. Cushing's syndrome is a rare endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol. Signs and symptoms of Cushing's syndrome include upper body obesity fatigue muscle weakness high blood pressure backache high blood sugar easy bruising and bluish-red stretch marks on the skin. Affected women may also experience irregular menstrual periods and increased" [YouTube Link](https://youtube.com/watch?v=hjodgsdWJf4) 2025-08-25T18:14Z [----] followers, [---] engagements "Treating Neonatal Onset Multisystem Inflammatory Disease (NOMID) Len Walt Vice President Head of Medical Affairs Sobi in North America discusses Kineret (anakinra) a treatment for neonatal onset multisystem inflammatory disease (NOMID). Kineret (anakinra) is a recombinant protein drug that blocks the biological activity of IL-1a and IL -1b by binding to interleukin-1 type [--] receptor (IL-R 1) expressed in a variety of tissues and organs and thereby blocking the interleukin-1 (IL-1) signalling. IL-1 is a key mediator of inflammation and a significant contributor to autoinflammatory diseases." [YouTube Link](https://youtube.com/watch?v=iDjIE8jV-T8) 2017-10-23T21:28Z [----] followers, [---] engagements "Fulcrum Therapeutics Diego Cadavid MD of Fulcrum Therapeutics explains the philosophy of the company and how they are developing therapies to stop certain mutated genes from overproducing certain proteins. One such therapy is losmapimod a mitogen-activated protein kinase (MAPK) inhibitor that is in clinical development to treat people with facioscapulohumeral muscular dystrophy. Facioscapulohumeral muscular dystrophy is a rare disabling disease due to mutations in the DUX4 gene. The disease generally begins with weakness in facial muscles but as the condition progresses shoulders arms and" [YouTube Link](https://youtube.com/watch?v=jCT8RT191rw) 2020-03-27T11:32Z [----] followers, [---] engagements "Alnylam and the PH1 Community Waiting for the FDA to Approve Lumasiran Pritesh J. Gandhi PharmD of Alnylam Pharmaceuticals explains the companys hope that lumasiran obtains FDA approval to treat primary hyperoxalaluria type [--] (PH1). A PDUFA data is set for December [--] [----]. PH1 is a rare genetic disease in which excessive oxalate production leads to painful and recurrent kidney stones. These recurrent stones increase the chance of hematuria urinary tract infections and end stage renal disease (ESRD). Lumasiran is an RNAi drug that targets hydroxyacid oxidase [--] (HAO1) the gene that encodes" [YouTube Link](https://youtube.com/watch?v=jxI4G1UB3cM) 2020-11-23T20:17Z [----] followers, [--] engagements "PellePharm CEO Dr. Sanuj Ravindran Sanuj K. Ravindran MD is president and CEO of PellePharm. Dr. Ravindran also serves on the PellePharm Board of Directors and is CEO-in-Residence with BridgeBio PellePharms parent company. Dr. Ravindran has more than [--] years of strategic and operational biopharma experience. Previously he was chief business officer at aTyr Pharma (LIFE) a clinical stage rare disease-focused biotechnology company where he led corporate strategy financial strategy business development and investor relations. Prior to that Dr. Ravindran was senior vice president of corporate" [YouTube Link](https://youtube.com/watch?v=kBhLI7j4C3g) 2018-01-16T20:58Z [----] followers, [---] engagements "Applied Therapeutics: An Overview Shoshana Shendelman Ph.D. President and Chief Executive Officer of Applied Therapeutics provides a brief overview of the orphan drug company. As Dr. Shendelman explains Applied Therapeutics is a biopharmaceutical company developing a pipeline of novel drug candidates against validated molecular targets in indications of high unmet medical need. The Companys lead drug candidate govorestat is an aldose reductase inhibitor (ARI) being developed to treat various rare metabolic disorders including galactosemia SORD deficiency and PMM2-CDG. The Company is also" [YouTube Link](https://youtube.com/watch?v=kaeKgzVaQoY) 2023-05-19T17:39Z [----] followers, [---] engagements "Onpattro (Patisiran) for Treatment of Polyneuropathy Caused by Hereditary ATTR Amyloidosis Pushkal Garg MD Chief Medical Officer at Alnylam discusses his company's approved RNAi therapy Onpattro (patisiran) for the treatment of polyneuropathy caused by hereditary ATTR (hATTR) amyloidosis a rare condition that affects an estimated [-----] people worldwide. Symptoms can affect multiple parts of the body including the nervous (nerve) cardiac (heart) and gastrointestinal (digestive) systems. Amyloidosis refers to a group of conditions caused by the build-up of amyloid fibrils in the body. Each type" [YouTube Link](https://youtube.com/watch?v=m44Pin55z-A) 2019-02-08T15:37Z [----] followers, [----] engagements "Myasthenia Gravis Clinical Research Highlights: AAN [----] This program is supported by an educational grant from UCB Inc. This accredited CME program highlights the latest clinical research about myasthenia gravis a rare autoimmune disease that targets the neuromuscular junction. This program led by Dr. James Howard Jr provides a summary of clinically relevant data presented at the American Academy of Neurology Annual Meeting (AAN 2025) held in San Diego CA that can enhance the care of patients with myasthenia gravis. To obtain CME credit for this program visit" [YouTube Link](https://youtube.com/watch?v=meD0BbGbY94) 2025-10-07T17:39Z [----] followers, [---] engagements "OLD: Jeff Ajer of BioMarin Discusses Gene Therapy Pricing Jeff Ajer Executive Vice President and Chief Commercial Officer of BioMarin discusses pricing concepts for gene therapy treatments. Mr. Ajer says that alternative funding mechanisms and payment structures will be needed for gene therapy. While gene therapies hold the promise of substantial benefits some patients may face barriers accessing them. CheckRare CheckOrphan Jeff Ajer BioMarin gene therapy CheckRare CheckOrphan Jeff Ajer BioMarin gene therapy" [YouTube Link](https://youtube.com/watch?v=mg90MLcsRlw) 2019-04-13T20:27Z [----] followers, [---] engagements "Chris Garabedian Discusses His Time at Sarepta Chris Garabedian discusses his time at Sarepta and some of the challenges that the rare disease communities will have to deal with in the coming years. CheckRare CheckOrphan Chris Garabedian Xontogeny Sarepta CheckRare CheckOrphan Chris Garabedian Xontogeny Sarepta" [YouTube Link](https://youtube.com/watch?v=n6iF2HaNHIA) 2018-02-26T21:33Z [----] followers, [---] engagements "Alnylam's Clinical Focus Editor's Note: This interview was conducted at #Bio2018. Please pardon the background noise. Barry Greene President of Alnylam provides an overview of his company and the science of RNA interference (RNAi). Alnylam is developing RNAi (RNA interference) into a new class of medicines to potentially address the needs of patients who have limited or inadequate treatment options. Alnylam's pipeline of investigational RNAi therapeutics is focused on diseases with unmet medical need that fall under [--] Strategic Therapeutic Areas (STArs): genetic medicines cardio-metabolic" [YouTube Link](https://youtube.com/watch?v=nEjeucidd9Y) 2018-07-26T14:08Z [----] followers, [---] engagements "CEO of Cyclo Therapeutics Discusses Niemann-Pick Disease Type C1 Clinical Trial Scott Fine CEO of Cyclo Therapeutics discusses the phase [--] trial evaluating hydroxypropyl betacyclodextrin (Trappsol Cyclo) for the treatment of Niemann-Pick disease type C1 (NPC1). NPC is a disabling neurogenetic disorder that has been diagnosed prenatally neonatally during childhood and even into adulthood. This rare disorder is marked by progressive motor dysfunction and a highly variable symptom profile and onset of symptoms. It can result in the patients death soon after birth or manifest as a chronic" [YouTube Link](https://youtube.com/watch?v=nVatect1pOY) 2021-10-14T10:34Z [----] followers, [---] engagements "Dr. John Maraganore of Alnylam Highlights the Importance of Diversity Dr. John Maraganore CEO of Alnylam highlights the importance of diversity within his company and the biotech sector. Dr. John Maraganore has led a career pursuing therapies to address unmet medical needs. At Alnylam Pharmaceuticals Maraganore is helping lead the development of RNAi therapeutics which aim to address genetic medicines cardio-metabolic diseases and hepatic infectious diseases. CheckRare CheckOrphan Dr. John Maraganore Alnylam Pharma diversity CheckRare CheckOrphan Dr. John Maraganore Alnylam Pharma diversity" [YouTube Link](https://youtube.com/watch?v=oAj-VgAt5c8) 2018-04-27T12:43Z [----] followers, [---] engagements "Multi-Omic Databases and Rare Cancers Milan Radovich PhD Chief Scientific Officer at Caris Life Sciences summarizes the companys comprehensive clinico-genomic database being used to advance targeted therapy for various cancer types. As noted by Dr. Radovich Caris performed whole genome sequencing of cancer patients to look at all [-----] genes in the genome and examine them in relation to cancer types and severity. At ASCO [----] numerous abstracts were presented that represent [--] studies involving over [--] cancer types. The findings of these studies show how comprehensive molecular profiling to" [YouTube Link](https://youtube.com/watch?v=oB19WFtd1LI) 2023-06-09T01:55Z [----] followers, [---] engagements "CAMP4 Therapeutics Programs For Urea Cycle Disorders and SYNGAP1 Yuri Maricich MD Chief Medical Officer of CAMP4 Therapeutics discusses the companys current drug development programs. CAMP4 is a biopharmaceutical company focused on utilizing RNA to develop novel treatments that increase gene expression in patients with rare genetic conditions. CAMP4 is currently working on CMP-CPS-001 a novel investigational therapy designed to address the underlying cause of urea cycle disorders (UCDs) by regulating genes associated with the condition. The first clinical trial of this program was initiated" [YouTube Link](https://youtube.com/watch?v=oNwgo7TmrVo) 2025-05-13T19:57Z [----] followers, [---] engagements "What is ENPP1 Deficiency Catherine Nester BSN VP of Physician and Patient Strategies at Inozyme Pharma discuss the prevalence of Ectonucleotide pyrophosphatase/phosphodiesterase [--] (ENPP1) Deficiency. ENPP1 deficiency is a rare metabolic disorder. ENPP1 is an enzyme involved in the cleavage of ectonucleotides. When a person is deficient in this enzyme it can lead to a plethora of metabolic concerns. Babies who present in utero or in infancy are typically diagnosed with generalized arterial calcification of infancy and about half of infants with ENPP1 Deficiency die within six months of birth." [YouTube Link](https://youtube.com/watch?v=oZOwGY6tc3k) 2023-02-22T16:03Z [----] followers, [---] engagements "Safety and Efficacy of PLN-74809 to Treat Idiopathic Pulmonary Fibrosis Eric LeFebvre MD Chief Medical Officer at Pliant Therapeutics discusses positive safety and efficacy data from the phase 2a INTEGRIS-IPF clinical trial of PLN-74809 in patients with idiopathic pulmonary fibrosis (IPF). IPF is a chronic progressive fibrosing lung disease with few treatment options and a poor prognosis. Common symptoms of IPF include shortness of breath and difficulty performing daily activities such as walking and talking. Currently there is no pharmacological cure for IPF with neither of the approved two" [YouTube Link](https://youtube.com/watch?v=pXm53HD2-FM) 2025-10-07T16:40Z [----] followers, [--] engagements "Safety and Efficacy of Sparsentan to Treat Focal Segmental Glomerulosclerosis (FSGS) Howard Trachtman MD from NYU Langone Health provides an overview of the safety and efficacy of sparsentan to treat focal segmental glomerulosclerosis (FSGS). FSGS is a heterogeneous kidney disorder that often presents with a variable degree of proteinuria and nephrotic syndrome. Current treatment options can include corticosteroids or other immunomodulating agents aimed to reduce proteinuria but new treatments such as sparsentan are in development. Sparsentan is a dual endothelin receptor and angiotensin" [YouTube Link](https://youtube.com/watch?v=pZRfO6nXKNU) 2021-05-03T14:06Z [----] followers, [----] engagements "John Maraganore Speaks Out on His Role as Bio Chair Dr. John Maraganore has served as the CEO and a Director of Alnylam since [----] and is the Chair of the Biotechnology Innovation Organization (BIO) for the 2017-2018 term. Dr. John Maraganore has led a career pursuing therapies to address unmet medical needs. At Alnylam Pharmaceuticals Maraganore is helping lead the development of RNAi therapeutics which aim to address genetic medicines cardio-metabolic diseases and hepatic infectious diseases. CheckRare CheckOrphan Dr. John Maraganore Alnylam Pharma BIO CheckRare CheckOrphan Dr. John" [YouTube Link](https://youtube.com/watch?v=qaiQeoECzyI) 2018-03-09T20:55Z [----] followers, [---] engagements "Alnylam's Pending Approval of Patisiran Editor's Note: This interview was conducted at #Bio2018. Please pardon the background noise. Barry Greene President of Alnylam discusses his company and it's pending approval of Patisiran an investigational RNAi therapeutic targeting transthyretin (TTR) in development for the treatment of hereditary ATTR amyloidosis (hATTR amyloidosis). CheckRare CheckOrphan Alnylam Barry Greene Inclisiran Givosiran Patisiran CheckRare CheckOrphan Alnylam Barry Greene Inclisiran Givosiran Patisiran" [YouTube Link](https://youtube.com/watch?v=rzSA4AS99XE) 2018-07-01T20:53Z [----] followers, [----] engagements "Mechanism of Action of Milademetan (RAIN-32) to Treat Liposarcoma Avanish Vellanki Cofounder and CEO at Rain Therapeutics describes the mechanism of action of milademetan (RAIN-32) an investigational MDM2 inhibitor which is currently being studied as a treatment for dedifferentiated liposarcoma in a phase [--] clinical trial. Liposarcoma is a rare cancer originating from fat cells located in the soft tissues of the body. It is a malignant cancer that can spread to other parts of the body. Well-differentiated liposarcoma is less aggressive and tends to present as a large painless mass found in" [YouTube Link](https://youtube.com/watch?v=sLIvd4hLpIg) 2021-08-31T14:22Z [----] followers, [---] engagements "Clinical Trials for ENPP1 and ABCC6 Deficiency Doug Treco PhD CEO of Inozyme Pharma discusses ongoing clinical trials for INZ-701 an enzyme replacement therapy for the potential treatment of ENPP1 and ABCC6 Deficiencies. ENPP1 Deficiency and ABCC6 Deficiency are rare metabolic diseases caused by mutations in the ENPP1 enzyme and ABCC6 gene respectively. Both disorders are characterized by decreased levels of pyrophosphate and ATP production leading to calcification in blood vessels skin joints tendons among other places. Patients with these deficiencies may experience pain and inflammation" [YouTube Link](https://youtube.com/watch?v=t8v_d5_7crQ) 2024-05-22T20:29Z [----] followers, [---] engagements "Delpacibart Braxlosiran in Patients With Facioscapulohumeral Muscular Dystrophy Mike Flanagan PhD Chief Scientific Officer at Avidity Biosciences discusses topline results from study testing delpacibart braxlosiran (del-brax) in patients with facioscapulohumeral muscular dystrophy and the newly initiated phase [--] trial. FSHD is a rare disorder characterized by muscle weakness and atrophy. This condition gets its name from the areas of the body that are affected most often: muscles in the face around the shoulder blades and in the upper arms. The signs and symptoms of FSHD usually appear in" [YouTube Link](https://youtube.com/watch?v=uFpB3WxOSYI) 2025-07-01T21:23Z [----] followers, [---] engagements "ENPP1 and ABCC6 Deficiency Data Presented at ASBMR [----] Kurt Gunter MD Senior Vice President and Chief Medical Officer at Inozyme Pharma discusses data presented on ENPP1 deficiency and ABCC6 deficiency at the [----] American Society for Bone and Mineral Research meeting. INZ-701 is a subcutaneous investigational ENPP1 enzyme replacement therapy (ERT). It is currently in development for the treatment of ENPP1 deficiency ABCC6 deficiency and calciphylaxis. The therapy has so far shown a rapid significant and sustained increase in pyrophosphate levels. The efficacy and safety profile has been" [YouTube Link](https://youtube.com/watch?v=uRQ8ABJKQPU) 2024-09-30T20:14Z [----] followers, [---] engagements "RNA-based Therapy Shows Promise for Dravet Syndrome in Preclinical Studies Ann Barbier MD PhD Chief Medical Officer at CAMP4 Therapeutics discusses positive animal model data from CAMP4s investigational RNA-based therapy for Dravet syndrome CMP-SCN. Dravet syndrome is a rare neurological condition that usually appears during the first year of life as frequent febrile seizures. As the condition progresses other types of seizures typically occur including myoclonus and status epilepticus. Moderate to severe cognitive impairment is also common. Most cases of Dravet syndrome occur due to a" [YouTube Link](https://youtube.com/watch?v=vBwLBJJLA4s) 2022-06-21T10:51Z [----] followers, [---] engagements "Kidney Involvement in Lysosomal Disorders Ozlem Goker-Alpan MD Founder and President LDRTC and David G. Warnock MD. Professor of Medicine (Emeritus) at University of Alabama at Birmingham discuss best practices to identify and treat kidney problems associated with lysosomal disorders. This CME/CE activity describes the pathophysiologies and management options for lysosomal disease patients with kidney problems. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC) CheckRare CE and AffinityCE. This" [YouTube Link](https://youtube.com/watch?v=wuwpX3jcV3Y) 2025-10-07T17:22Z [----] followers, [--] engagements "Disease Severity and Progression in Patients With ENPP1 Deficiency Matt Winton PhD Senior Vice President and Chief Operating Officer of Inozyme Pharma discusses results from an analysis characterizing disease severity and progression in patients with ENPP1 deficiency. ENPP1 deficiency is a rare metabolic disease caused by mutations in the ENPP1 enzyme responsible for the cleavage of ectonucleotides that prevent mineralization. In ENPP1 deficiency calcium phosphate precipitates throughout the body accumulating in the wrong places such as blood vessels skin eyes joints and tendons. This is due" [YouTube Link](https://youtube.com/watch?v=xGQnejhazkU) 2025-05-29T14:33Z [----] followers, [---] engagements "New Four Year Data Shows Satralizumab Sustains Efficacy and Safety in Treating NMOSD Ashish Pradhan MD Executive Director and Disease Area Lead for MS and NMOSD at Genentech discusses the 4-year data examining the efficacy and safety of satralizumab to treat neuromyelitis optica spectrum disorder (NMOSD). This data was recently presented at the ECTRIMS [----] Annual Meeting. NMOSD is a rare central nervous disorder that primarily affects the spinal cord and optic nerves. Symptoms of NMOSD may include blindness in one or both eyes weakness or paralysis of arms or legs spasming loss of sensation" [YouTube Link](https://youtube.com/watch?v=xWGfzW2cKww) 2021-12-03T11:36Z [----] followers, [---] engagements "Gene Control vs Gene Therapy David Roth MD of Syros Pharmaceuticals describes his companys gene control methodology to target genetic conditions in a unique way. Instead of the more traditional gene therapies that are the focus of many studies Syros investigates and identifies disease-causing alterations in gene expression to create medicines that control the expression of genes. The company currently has medicines in clinical trials to treat acute myeloid lymphoma (AML) as well as numerous medicines in pre-clinical develop to treat sickle cell disease myeloproliferative neoplasms and other" [YouTube Link](https://youtube.com/watch?v=xsFRZq6YCn4) 2019-12-12T10:40Z [----] followers, [---] engagements "Jeff Ajer of BioMarin Discusses Gene Therapy Pricing Jeff Ajer Executive Vice President and Chief Commercial Officer of BioMarin discusses pricing concepts for gene therapy treatments. Mr. Ajer says that alternative funding mechanisms and payment structures will be needed for gene therapy. While gene therapies hold the promise of substantial benefits some patients may face barriers accessing them. CheckRare CheckOrphan CheckOrphan Jeff Ajer BioMarin gene therapy rare disease hemophilia CheckRare CheckOrphan CheckOrphan Jeff Ajer BioMarin gene therapy rare disease hemophilia" [YouTube Link](https://youtube.com/watch?v=yLdNsKegZ_s) 2019-04-15T16:57Z [----] followers, [---] engagements "CEO of Inozyme Shares Preliminary Data From ENPP1 Deficiency Clinical Trial Axel Bolte MSc MBA Co-Founder President and Chief Executive Officer Inozyme Pharmaceuticals discusses the positive preliminary data from the first [--] patients treated in the phase [--] portion of the phase 1/2 clinical trial of INZ-701 in ENPP1 deficiency patients. The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase [--] (ENPP1) which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating" [YouTube Link](https://youtube.com/watch?v=yT1S-pktxH4) 2022-05-06T10:11Z [----] followers, [---] engagements "Mechanism of Action of Pabinafusp-Alfa in MPS-II Mathias Schmidt PhD President and CEO of JCR Pharmaceuticals USA discusses the mechanism of action of pabinafusp-alfa an investigational therapy for mucopolysaccharidosis type II (MPS II; Hunter syndrome). MPS II is a rare progressive lysosomal disease caused by deficient activity of iduronate-2-sulfatase attributable to pathogenic variants of the iduronate-2-sulfatase gene (IDS). This disease has a variable clinical presentation but common signs and symptoms include: developmental decline between [--] and [--] months followed by progressive loss" [YouTube Link](https://youtube.com/watch?v=yv6Y20wzOrg) 2022-04-08T10:09Z [----] followers, [---] engagements "Recordati Rare Diseases Mohamed Ladha President and General Manager of Recordati Rare Diseases discusses the companys involvement in the rare disease community. Recordati Rare Diseases operates under the goal of maximizing the quality of life for rare disease patients through investments in research and education. From financial support for patients currently on their products to education opportunities for allied healthcare workers the company offers a variety of services. Therapeutic areas of focus for the company include Cushings and acromegaly in the endocrinology space idiopathic" [YouTube Link](https://youtube.com/watch?v=zU1V-Eip1jQ) 2024-07-12T14:43Z [----] followers, [---] engagements "Milademetan Shows Promise as Treatment for Multiple Cancer Types Avanish Vellanki Cofounder and CEO at Rain Therapeutics discusses the role of p53 and MDM2 in cancers like liposarcoma the mechanism of action of milademetan and the positive pre-clinical data presented at the [----] World Conference of Lung Cancer. As Mr. Vellanki explains p53 regulates the cell cycle and is essential for tumor suppression. MDM2 is a crucial regulator of p53. If MDM2 is overexpressed p53 can be inactivated leading to tumor growth and cancer progression. Milademetan Rain Therapeutics lead product candidate" [YouTube Link](https://youtube.com/watch?v=zU8T4xmTq_A) 2021-09-30T10:24Z [----] followers, [---] engagements "Hemophilia Research Highlights: ISTH [----] The accredited CME program highlights the latest clinical research about hemophilia a rare genetic bleeding disorder. Led by Dr. Steven Pipe MD this activity provides a summary of clinically relevant data presented at the International Society of Thrombosis and Haemostatis Congress (ISTH 2025) that can enhance the care of patients with hemophilia. This program is supported by an educational grant from Sanofi. To receive CME credit visit https://checkrare.com/learning/p-isth2025-module1-hemophilia-clinical-research-highlights/ Target Audience This" [YouTube Link](https://youtube.com/watch?v=zht7QzatpFo) 2025-10-07T17:39Z [----] followers, [---] engagements "3-Year Data from FIREFISH Demonstrates Long-Term Safety and Efficacy of Risdiplam in SMA Type [--] Dalia Moawad MD Executive Director Head of Neurological Rare Diseases Medical Affairs at Genentech discusses 3-year data from the FIREFISH study of risdiplam (Evrysdi) in infants with spinal muscular atrophy (SMA) type [--]. SMA is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The absence of the SMN protein leads to cellular imbalances in motor neurons that in turn causes the motor neuron endplates to" [YouTube Link](https://youtube.com/watch?v=-3khu1VDBEw) 2022-05-11T09:50Z [----] followers, [---] engagements "Five-Year Follow-Up Results of OPTIC Clinical Trial for CML Jorge Cortes MD Director of the Georgia Cancer Center discusses five year follow-up results of the OPTIC clinical trial for chronic myeloid leukemia (CML). CML is a myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age but it mostly affects middle aged and older individuals. Patients usually present with fatigue weight loss anemia night sweats and splenomegaly. Allogeneic stem cell transplantation and tyrosine kinase inhibitors are" [YouTube Link](https://youtube.com/watch?v=-4kAeAkA7yI) 2025-01-21T16:34Z [----] followers, [---] engagements "Cutaneous T-Cell Lymphoma: Overview and Diagnosis Neha Mehta-Shah MD Medical Oncologist at Washington University St. Louis provides an overview of cutaneous T-cell lymphoma (CTCL) and its diagnosis. CTCL is a rare group of malignancies that attack the bodys immune lymphatic system affecting both B-cells and T-cells. Whereas the B-lymphocytes act to neutralize the pathogens the main job of the T-lymphocytes is to attach to these foreign cells viruses or cancerous growths and directly destroy them. The underlying cause of CTCL is not currently fully understood. Genetic causes are suspected but" [YouTube Link](https://youtube.com/watch?v=-93lz5Knj4E) 2025-06-25T14:32Z [----] followers, [---] engagements "Data from Phase [--] Gene Therapy Trial in Hemophilia B Patients Very Encouraging Steven Pipe MD Professor of Pediatrics and Pathology and Pediatric Medical Director of the Hemophilia and Coagulation Disorders Program at the University of Michigan discusses the recent announcement of positive long-term results from the phase [--] HOPE-B clinical trial evaluating etranacogene dezaparvovec (EtranaDez) an investigational gene therapy for hemophilia B. Hemophilia B is a congenital bleeding disorder due to dysfunction or deficiency of coagulation Factor IX (FIX). People with this condition may bleed for" [YouTube Link](https://youtube.com/watch?v=-UqZYbNnSnI) 2025-10-06T16:17Z [----] followers, [--] engagements "Hemophagocytic Lymphohistiocytosis: Disease Overview and Emerging Treatment Options Len Walt Vice President Head of Medical Affairs SOBI in North America discusses Hemophagocytic lymphohistiocytosis (HLH) a rare condition in which the body makes too many activated immune cells (macrophages and lymphocytes). People with HLH usually develop symptoms within the first months or years of life. Symptoms may include fever enlarged liver or spleen cytopenia (decreased number of blood cells) and neurological abnormalities. HLH may be inherited in an autosomal recessive manner or it can have" [YouTube Link](https://youtube.com/watch?v=-czcx4zXfAM) 2018-09-18T13:14Z [----] followers, [----] engagements "Education Campaign for Thyroid Eye Disease Margarita Ochoa-Maya MD Medical Director of the Rare Disease Business Unit at Amgen discusses the TEDucation campaign for thyroid eye disease (TED). TED is a rare autoimmune disease that can dramatically impact a persons vision. The condition often occurs in people with hyperthyroidism or Graves disease (GD) but also can occur in association with hypothyroidism euthyroidism and Hashimotos thyroiditis. GD affects approximately 1% to 2% of the adult population with an estimated 40% of GD patients subsequently developing TED over the course of their" [YouTube Link](https://youtube.com/watch?v=-qycC5HWWBw) 2025-08-25T18:02Z [----] followers, [--] engagements "GMMG-HD7 Clinical Trial for Patients With Multiple Myeloma Elias Mai MD Heidelberg Myeloma Center discusses the GMMG-HD7 clinical trial for patients with multiple myeloma. Multiple myeloma is a bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions pathological fractures bone pain hypercalcemia and anemia. The GMMG-HD7 clinical trial is a randomized phase [--] study evaluating the effect of isatuximab in induction therapy with lenalidomide/bortezomib/dexamethasone (RVd) and lenalidomide maintenance in patients with" [YouTube Link](https://youtube.com/watch?v=-xt-5PpubQM) 2025-01-21T16:00Z [----] followers, [---] engagements "Hematologic Malignancies and Clinical Trial Participations: A Shared Decision-Making Approach This 30-minute CME-accredited program hosted by John Kuruvilla MD discusses best practices for talking to patients with hematologic malignancies about possibly participating in clinical trials. Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Merck. Estimated time to complete: [---] hours Start date: November [--] [----] End date: November [--] [----] Activity Faculty John Kuruvilla MD" [YouTube Link](https://youtube.com/watch?v=-yFvzj3dris) 2025-10-07T17:22Z [----] followers, [--] engagements "Biopharmaceutical and Immunological Properties of PEGylated Proteins (Chapter 2) Joo Gonalves Faculty of Pharmacy University of Lisbon Lisbon Portugal Paolo Caliceti Department of Pharmaceutical and Pharmacological Sciences University of Padova Padova Italy What Is PEGylation and Why Is It Important We will begin by examining the clinical uses of therapeutic proteins and their applications in healthcare. Next we will discuss the inherent limitations of therapeutic proteins including challenges such as pharmacokinetic (PK) profiles protein aggregation during storage and potential immune" [YouTube Link](https://youtube.com/watch?v=09UpEDHmqgk) 2025-07-29T20:29Z [----] followers, [--] engagements "Prader-Willi Syndrome Overview Rudolf Baumgartner MD Chief Medical Officer and Head of Clinical Development at Saniona gives an overview of Prader-Willi syndrome (PWS)" [YouTube Link](https://youtube.com/watch?v=0JLzz5yC0ug) 2025-10-06T15:05Z [----] followers, [--] engagements "Current and Emerging Treatments for Lysosomal Storage Diseases Please join Drs. Ozlem Goker-Alpan and Ari Zimran as they discuss the latest developments in the treatments for lysosomal storage diseases" [YouTube Link](https://youtube.com/watch?v=0KI_PAzPYrE) 2025-10-06T15:06Z [----] followers, [--] engagements "Daily Symptom Burden of Hypoparathyroidism Patty Keating Executive Director of the HypoPARAthyroidism Association and patient discusses the daily symptom burden of hypoparathyroidism Hypoparathyroidism is a rare endocrine disorder in which the parathyroid glands do not produce sufficient parathyroid hormone (PTH). Common signs and symptoms include abdominal pain brittle nails cataracts dry hair and skin muscle cramps tetany pain in the face legs and feet seizures tingling sensation and weakened tooth enamel. It may be caused by injury to the parathyroid glands (e.g. during surgery). The first" [YouTube Link](https://youtube.com/watch?v=0VlC6RaczIw) 2025-09-04T16:48Z [----] followers, [---] engagements "We Bet On All the Ponies: How the MLD Foundation Supports Drug Development Dean Suhr of the MLD Foundation provides an overview of the philosophy of their foundation when it comes to supporting research for metachromatic leukodystrophy (MLD). MLD is a genetic lysosomal disorder due to a deficiency in the enzyme arylsulfatase A (ARSA). It is characterized by the accumulation of sulfatides in cells that leads to the progressive destruction of white matter throughout the nervous system. Affected individuals show progressive deterioration of cognitive ability motor and sensory functions." [YouTube Link](https://youtube.com/watch?v=0_wrGnXKRvk) 2023-04-28T16:26Z [----] followers, [---] engagements Limited data mode. Full metrics available with subscription: lunarcrush.com/pricing
@checkrare CheckRare
CheckRare posts on YouTube about rare, university of, in the, gene the most. They currently have [-----] followers and [---] posts still getting attention that total [---] engagements in the last [--] hours.
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- [--] Week [---] +37%
- [--] Month [-----] -72%
- [--] Months [------] -23%
- [--] Year [------] +8.70%
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- [--] Year [---] +412%
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- [--] Week [-----] +0.23%
- [--] Month [-----] +1.10%
- [--] Months [-----] +6.60%
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Social Influence
Social category influence countries travel destinations stocks finance technology brands currencies celebrities ncaa football automotive brands cryptocurrencies
Social topic influence rare, university of, in the, gene #255, ceo, hosted, company, people with, health, education
Top accounts mentioned or mentioned by @academycmeorg @affinitycedcom
Top assets mentioned Passage Bio, Inc. (PASG) Sanofi (SNY) Enzyme (MLN) Acadia Pharmaceuticals Inc. (ACAD) Johnson & Johnson (JNJ) PTC Therapeutics, Inc. (PTCT) Ionis Pharmaceuticals, Inc. Common Stock (IONS)
Top Social Posts
Top posts by engagements in the last [--] hours
"Interim Data from Gene Therapy for GM1 Gangliosidosis Shows Dramatic Improvement David Weinstein MD Senior Vice President of Clinical Development at Passage Bio discusses new interim clinical data from the Imagine-1 study of PBGM01 a gene therapy for GM1 gangliosidosis. This data was recently presented at WORLDSymposium [----]. GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides in neurons causing rapidly progressive"
YouTube Link 2022-02-28T12:37Z [----] followers, [---] engagements
"Urea Cycle Disorders: Overview and Developing Novel Therapies Yuri Maricich MD Chief Medical Officer of CAMP4 Therapeutics provides an overview of urea cycle disorders (UCDs) and discusses developing novel therapies. UCDs are a group of rare inherited metabolic disorders caused by deficiency of one of the six enzymes in the urea cycle responsible for removing ammonia from the blood stream. The most common of these enzymes are OTC ASS and ASL. Urea is a byproduct of the metabolism that in normal cases is converted to urea and removed from the blood. However in UCDs nitrogen builds up in the"
YouTube Link 2025-05-12T19:30Z [----] followers, [---] engagements
"GM1 Gangliosidosis Overview Mark Forman MD PhD Chief Medical Officer at Passage Bio gives an overview of GM1 gangliosidosis. As Dr. Forman explains GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides in neurons causing rapidly progressive neurodegeneration. Progressive damage is also seen in the heart liver and bones. The condition may be classified into three major types: classic infantile (type 1); juvenile (type"
YouTube Link 2022-11-01T13:09Z [----] followers, [----] engagements
"Friedreichs Ataxia: Diagnosis and Typical Path of Progression R. Nolan Townsend Chief Executive Officer of Lexeo Therapeutics discusses why diagnosis of Friedreichs ataxia can be delayed and how the disease tends to progress. Friedreichs ataxia is a degenerative neuromuscular disorder caused by mutations in the FXN gene which reduces the production of frataxin a protein important for proper mitochondrial functions. The onset of symptoms varies greatly among patients but generally occurs between the ages of [--] to [--] years. Some of the more common symptoms include ataxia fatigue scoliosis"
YouTube Link 2021-08-11T22:19Z [----] followers, [----] engagements
"Using Gene Therapy to Treat GM1 Gangliosidosis Mark Forman MD PhD Chief Medical Officer at Passage Bio discusses the mechanism of action of PBGM01 an investigational gene therapy for infantile GM1 gangliosidosis. GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides in neurons causing rapidly progressive neurodegeneration. Progressive damage is also seen in the heart liver and bones. The condition may be classified"
YouTube Link 2022-08-04T12:48Z [----] followers, [---] engagements
"Investigational Drug for Fragile X Syndrome Improves Cognition Elizabeth Berry-Kravis MD PhD Pediatric Neurologist at Rush University Medical Center discusses the development of an investigational drug for Fragile X syndrome (FXS). FXS is a rare genetic condition involving mutations in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. Other signs and symptoms may include"
YouTube Link 2024-09-20T16:58Z [----] followers, [---] engagements
"CAHtalyst Clinical Trials in Adults With Congenital Adrenal Hyperplasia Vivian Lin MD Executive Medical Director of Medical Affairs at Neurocrine discusses the CAHtalyst clinical trials in adults with congenital adrenal hyperplasia (CAH). CAH refers to a group of genetic conditions that affect the adrenal gland production of hormones particularly the production of cortisol and androgen hormones. Persons with severe forms of the condition can be dramatically impacted. For example females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed"
YouTube Link 2025-09-04T17:21Z [----] followers, [---] engagements
"New Treatment Option (SAT-3247) for Duchenne Muscular Dystrophy Shows Promise in Early Phase Trial Wildon Farwell MD Chief Medical Officer at Satellos discusses the safety and efficacy of SAT-3247 to treat adults with Duchenne muscular dystrophy (DMD). DMD is a genetic neuromuscular disorder characterized by progressive muscle wasting. DMD occurs primarily in males though in rare cases may affect females. The symptoms of DMD include progressive weakness and atrophy of both skeletal and heart muscle. Early signs may include delayed ability to sit stand or walk and difficulties learning to"
YouTube Link 2025-10-27T16:24Z [----] followers, [---] engagements
"Mustang Bio's Chimeric Antigen Receptor Engineered T Cell Program Manuel Litchman MD President Chief Executive Officer at Mustang Bio discusses his company's proprietary chimeric antigen receptor engineered T cell (CAR T) immunotherapies program. Mustang Bio is focused on the development of a broad range of proprietary chimeric antigen receptor engineered T cell (CAR T) immunotherapies and gene therapies in areas of unmet need. Mustang aims to acquire rights to these technologies by licensing or otherwise acquiring an ownership interest to fund research and development and to outlicense or"
YouTube Link 2019-02-27T21:31Z [----] followers, [---] engagements
"Gene Therapy Clinical Trial for Frontotemporal Dementia Has Begun Mark Forman MD PhD Chief Medical Officer at Passage Bio discusses the global phase 1/2 upliFT-D clinical trial evaluating PBFT02 an adeno-associated virus (AAV) delivery gene therapy for patients with frontotemporal dementia (FTD) with granulin (GRN) mutations. FTD is a disorder that affects the frontal and temporal lobes of the brain areas that control personality executive function and language. FTD is a form of early onset dementia and currently has no approved disease-modifying therapies. In approximately 510% of"
YouTube Link 2022-09-23T10:10Z [----] followers, [---] engagements
"Advantages of Intra Cisterna Magna Delivery for Gene Therapy Administration David Weinstein MD Senior Vice President of Clinical Development at Passage Bio discusses why the companys investigational gene therapy PBGM01 is being administered through the cisterna magna. GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides in neurons causing rapidly progressive neurodegeneration. Progressive damage to other tissues"
YouTube Link 2022-04-15T11:16Z [----] followers, [----] engagements
"GM1 Gangliosidosis Explained Samiah Al-Zaidy MD Vice President of Clinical Development and Lead on the Passage Bio GM1 Gangliosidosis (GM1) Program gives an overview of GM1. As Dr. Al-Zaidy explains GM1 is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides in neurons causing rapidly progressive neurodegeneration. Progressive damage is also seen in the heart liver and bones. The condition may be classified into three major types:"
YouTube Link 2023-05-06T16:12Z [----] followers, [----] engagements
"Positive Interim Data in Gene Therapy Trial for GM1 Gangliosidosis Mark Forman MD PhD Chief Medical Officer at Passage Bio discusses long-term clinical and biomarker data from Cohort [--] in the phase 1/2 Imagine-1 study of PBGM01 a gene therapy under investigation for GM1 gangliosidosis. This data was presented at the [----] American Society of Gene and Cell Therapy meeting (ASGCT 2022). GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation"
YouTube Link 2022-06-21T10:42Z [----] followers, [---] engagements
"Overview of GM1 Gangliosidosis David Weinstein MD Senior Vice President of Clinical Development at Passage Bio gives an overview of GM1 gangliosidosis. As Dr. Weinstein explains GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides causing rapidly progressive neurodegeneration as well as progressive damage to other tissues including the heart liver and bones. The condition may be classified into three major types:"
YouTube Link 2022-05-05T11:17Z [----] followers, [---] engagements
"What Is Myotonic Dystrophy Type [--] (DM1) Art Levin PhDdistinguished scientist and strategic leader and member of the companys board of directors at Avidity Biosciences provides an overview of myotonic dystrophy type [--] (DM1). As Dr. Levin explains DM1 is a form of muscular dystrophy characterized by myotonia or the inability for muscles to relax as well as muscle weakness. Other common symptoms include respiratory problems fatigue hypersomnia cardiac abnormalities severe gastrointestinal complications and cognitive and behavioral impairment. DM1 is caused by a triplet-repeat in the DMPK gene"
YouTube Link 2023-03-08T21:46Z [----] followers, [----] engagements
"Phenylketonuria (PKU) Explained Cary Harding MD at Oregon Health & Science University (OHSU) provides an overview of phenylketonuria (PKU). PKU is a rare metabolic disease caused by toxic levels of the amino acid phenylalanine (Phe) which can lead to neurocognitive deficits. Despite two approved treatments most patients with PKU are either unresponsive to current therapies or these options present unacceptable safety risks such as anaphylaxis. Given that Phe is found in all sources of natural protein most patients must adhere to a very strict protein-free diet. As noted by Dr. Harding current"
YouTube Link 2023-06-23T01:22Z [----] followers, [----] engagements
"Interecept Pharma: Focused on Non-Viral Liver Diseases Gail Cawkwell MD PhD Senior Vice President Medical Affairs at Intercept provides an overview of the company. Intercept is a biopharmaceutical company focused on the development and commercialization of novel therapeutics to treat progressive non-viral liver diseases including primary biliary cholangitis (PBC) nonalcoholic steatohepatitis (NASH) primary sclerosing cholangitis (PSC) and biliary atresia. Founded in [----] in New York Intercept has operations in the United States Europe and Canada. CheckRare CheckOrphan Gail Cawkwell MD PhD"
YouTube Link 2018-08-08T11:30Z [----] followers, [---] engagements
"Positive Data from Two Gene Therapy Trials for MPS I and MPS II Steve Pakola MD Chief Medical Officer for Regenxbio discusses data from the ongoing gene therapy trials in children with mucopolysaccharidosis type I (MPS I) and mucopolysaccharidosis type II (MPS II). The data was presented at WORLDSymposium [----]. MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme alpha-L-iduronidase which is responsible for breaking down glycosaminoglycans (GAGs). These GAGs accumulate in the tissues of MPS I patients resulting in a diverse clinical profile. In moderate to"
YouTube Link 2022-03-04T11:47Z [----] followers, [---] engagements
"Elritercepts Effect on Transfusion Independence in Patients With Myelodysplastic Syndromes Lynette Chee PhD Hematologist at The Royal Melbourne Hospital/ Peter MacCallum Cancer Centre discusses elritercepts effect on transfusion independence (TI) in patients with myelodysplastic syndromes (MDS) MDS are a group of blood disorders characterized by abnormal development of blood cells within the bone marrow. People with MDS have abnormally low blood cell levels. Signs and symptoms may include dizziness fatigue weakness shortness of breath bruising and bleeding frequent infections and headaches."
YouTube Link 2026-01-26T20:18Z [----] followers, [---] engagements
"Overview of Phenylketonuria (PKU) Matthew Klein MD MS FACS Chief Development Officer at PTC Therapeutics gives an overview of phenylketonuria (PKU). As Dr. Klein explains PKU is a rare genetic metabolic disorder caused by a defect in the gene involve in the production of phenylalanine hydroxylase an enzyme needed to break down the amino acid phenylalanine. The accumulation of phenylalanine can cause damage multiple organs most notably the central nervous system. If PKU is left untreated patients can develop chronic intellectual neurodevelopmental and psychiatric disabilities as well as"
YouTube Link 2021-10-07T11:53Z [----] followers, [----] engagements
"Long-term Efficacy of Rilzabrutinib in Patients With Immune Thrombocytopenia David Kuter MD DPhil Professor of Medicine at Harvard Medical School Massachusetts General Hospital discusses treatment with rilzabrutinib in patients with immune thrombocytopenia (ITP). ITP is an autoimmune bleeding disorder characterized by too few platelets in the blood. Symptoms may include bruising nosebleeds or bleeding in the mouth bleeding into the skin and abnormally heavy menstruation. Recently new data from the phase [--] LUNA clinical trial (NCT04562766) was presented at the [----] American Society of"
YouTube Link 2026-01-07T19:12Z [----] followers, [---] engagements
"Efficacy of AMO-02 (tideglusib) in Myotonic Dystrophy Type [--] (DM1) Michael Snape PhD Chief Science Officer at AMO Pharma discusses the efficacy of AMO-02 (tideglusib) for myotonic dystrophy type [--] (DM1). DM1 is a genetic disease affecting the muscles and other body systems. Three forms of DM1 may present: the mild form the classic form and the congenital form. This disease is characterized by progressive muscle loss and weakness. People with myotonic dystrophy usually have prolonged muscle tensing and are not able to relax certain muscles after use. The severity of the disease may vary among"
YouTube Link 2024-05-20T19:23Z [----] followers, [---] engagements
"SOBI Overview Rami Levin President Sobi in North America provides a brief overview of his company. CheckOrphan CheckRare Rare Disease Report Rami Levin Still's disease Kineret anakinra rare inflammatory disorder CheckOrphan CheckRare Rare Disease Report Rami Levin Still's disease Kineret anakinra rare inflammatory disorder"
YouTube Link 2017-10-23T21:30Z [----] followers, [---] engagements
"Can We Streamline How AAV Gene Therapies Are Developed P.J. Brooks PhD Acting Director of the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences (NCATS) describes the Platform Vector Gene Therapy (PaVe-GT) pilot project. As Dr. Brooks explains adeno-associated virus (AAV) gene therapies use a modified version of AAV to deliver a working copy of a defective gene into the relevant cells for a given disease including cells in the eye liver brain muscle and other organs. AAV gene therapy is a promising platform for many single-gene rare diseases and"
YouTube Link 2022-03-17T11:20Z [----] followers, [---] engagements
"Fibromuscular Dysplasia (FMD) Overview Jeffrey W Olin DO is a Professor of Medicine at the Icahn School of Medicine at Mount Sinai and Director of Vascular Medicine and the Vascular Diagnostic Laboratory in the Zena and Michael A. Wiener Cardiovascular Institute and Marie-Jose and Henry R. Kravis Center for Cardiovascular Health of The Mount Sinai Medical Center. In this video Dr Olin provides an overview of fibromuscular dysplasia (FMD) a rare condition characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow. The"
YouTube Link 2019-05-06T10:11Z [----] followers, [----] engagements
"Study Results Demonstrate Favourable Efficacy and Safety of Lumasiran for PH1 Pritesh J. Gandhi PharmD Vice President and General Manager Lumasiran Program at Alnylam Pharmaceuticals discusses the results of the Illuminate-A study a Phase [--] randomized double-blind placebo-controlled study that evaluated the efficacy and safety of lumasiran in children (age [--] or older) and adults with primary hyperoxaluria type [--] (PH1). PH1 is a rare genetic disease in which excessive oxalate production leads to painful and recurrent kidney stones. These recurrent stones increase the chance of hematuria"
YouTube Link 2021-05-06T15:01Z [----] followers, [---] engagements
"Dr. Ido Weinberg Provides an Overview of Fibromuscular Dysplasia (FMD) Ido Weinberg MD Medical Director VASCORE; Assistant Professor of Medicine Havard Medical School Co-Medical Director Anticoagulation Management Services Massachusetts General Hospital provides an overview of Fibromuscular Dysplasia (FMD). FMD is a rare disease that causes one or more arteries in the body to have abnormal cell development in the artery wall. As a result areas of narrowing (called stenosis) aneurysms or tears (called dissections) may occur. If narrowing or a tear causes a decrease in blood flow through the"
YouTube Link 2019-05-13T13:34Z [----] followers, [----] engagements
"Investigational Therapy INZ-701 for ENPP1 Deficiency Correction: Dr. Weber cited the genetic incidence of ENPP1 deficiency as 1/100000 It is actually 1/64000 David Weber MD Attending Physician and Medical Director of the Center for Bone Health at Childrens Hospital of Philadelphia discusses investigational treatment INZ-701 for ENPP1 deficiency. ENPP1 deficiency is a rare metabolic disease caused by mutations in the ENPP1 enzyme. This enzyme is responsible for the cleavage of ectonucleotides that prevent mineralization. In ENPP1 deficiency calcium phosphate precipitates throughout the body"
YouTube Link 2024-10-01T15:47Z [----] followers, [---] engagements
"BioPharma ProQR Provides a Company Overview Daniel de Boer Founder and CEO of ProQR provides an overview of his company. ProQR's focus is on diseases that are very severe or life threatening and have limited treatment options. The company is developing new therapies for several forms of inherited blindness such as Lebers congenital amaurosis and Usher syndrome cystic fibrosis and a debilitating skin disease called dystrophic epidermolysis bullosa. Mr. de Boer also explains Leber's congenital amaurosis Type [--] (LCA 10) a genetic eye disorder and the leading genetic cause of childhood"
YouTube Link 2018-05-29T00:56Z [----] followers, [---] engagements
"What Is the Difference Between Frontotemporal Dementia (FTD) and FTD With GRN Mutations Mark Forman MD PhD Chief Medical Officer at Passage Bio gives an overview of frontotemporal dementia (FTD) with granulin (GRN) mutations. As Dr. Forman explains FTD is a disorder that affects the frontal and temporal lobes of the brain areas that control personality executive function and language. FTD is a form of early onset dementia and currently has no approved disease-modifying therapies. In approximately 510% of individuals with FTD the disease involves mutations in the GRN gene. These mutations"
YouTube Link 2022-11-18T11:01Z [----] followers, [---] engagements
"Corbus Pharmaceuticals Overview Yuval Cohen PhD CEO of Corbus Pharmaceuticals provides a compnay overview focusing on Lenabasum a novel synthetic oral endocannabinoid-mimetic drug designed to resolve chronic inflammation and fibrotic processes. Lenabasum is currently being evaluated in clinical studies for systemic sclerosis cystic fibrosis dermatomyositis and systemic lupus erythematosus CheckRare CheckOrphan Yuval Cohen PhD Corbus lenabasum inflammation in auto-immune di systemic sclerosis dermatomyositis systemic lupus erythematosus cystic fibrosis Cystic Fibrosis Foundation CheckRare"
YouTube Link 2018-04-20T12:22Z [----] followers, [---] engagements
"Sangamo Therapeutics Focus on Rare Diseases Nathalie Dubois-Stringfellow PhD Senior Vice President of Product Development & Management at Sangamo Therapeutics discusses the companys focus on rare diseases. Sangamo Therapeutics Inc has several gene therapies in clinical development to treat various rare conditions including hemophilia A and Fabry disease as discussed by Dr. Dubois-Stringfellow. Hemophilia A is a genetic disorder caused by missing or defective factor VIII a clotting protein. Symptoms will vary and are dependent on the level factor VIII present. In the more severe forms of the"
YouTube Link 2023-01-10T15:48Z [----] followers, [---] engagements
"Adzynma and How It Affects Congenital Thrombotic Thrombocytopenic Purpura (cTTP) Dr. Mellgrd MD PhD Vice President Global Program Lead Rare Genetics and Hematology Takeda explains the introduction of Adzynma and how it affects congenital thrombotic Thrombocytopenic purpura (cTTP). Transcription: Just like the several other products that we have in Takeda Adzynma is a pure replacement. We are giving the patient what they are missing. These C-T-T-P patients have a congenital deficiency of ADAMTS13 and Adzynma is then a recombinant form of ADAMTS13 and we're just giving that back. Now I don't"
YouTube Link 2024-01-04T01:29Z [----] followers, [---] engagements
"Newly-Diagnosed ENPP1 Deficiency: Advice for Parents Axel Bolte MSc MBA Co-Founder President and Chief Executive Officer Inozyme Pharmaceuticals gives advice to parents of a baby diagnosed with ENPP1 deficiency. The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase [--] (ENPP1) which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating normal bone mineralization. Individuals who present in utero or in infancy are typically diagnosed with generalized arterial"
YouTube Link 2022-06-21T11:06Z [----] followers, [---] engagements
"PKU Treatment: Medical Foods vs Kuvan vs Palynziq Gerald Vockley MD PhD Head of the Division of Medical Genetics at UPMC Childrens Hospital of Pittsburgh discusses the limitations of the current treatment options for individuals with phenylketonuria (PKU). As Dr. Vockley explains PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body which can cause significant organ damage especially in the central nervous system. If left untreated PKU patients can develop chronic intellectual"
YouTube Link 2023-01-09T22:53Z [----] followers, [----] engagements
"Overview of Paroxysmal Nocturnal Hemoglobinuria (PNH) OverMonica Fay PharmD Senior Vice President of Global Medical Affairs at Apellis Pharmaceuticals gives an overview of paroxysmal nocturnal hemoglobinuria (PNH). As Dr. Fay explains PNH is a rare life-threatening blood disorder characterized by hemolysis. Persistently low hemoglobin levels can result in severe fatigue and difficulty breathing. Additionally individuals with PNH are susceptible to thrombotic events and many have some degree of bone marrow dysfunction. In May [----] the U.S. Food and Drug Administration (FDA) approved"
YouTube Link 2022-02-15T11:20Z [----] followers, [---] engagements
"Stefan Weber Newron Pharmaceuticals: Company Overview and Focus on Rett Syndrome Stefan Weber CEO of Newron Pharmaceuticals provides a company overview and the focus on Rett Syndrome. Newron is focused on the development of novel therapies for patients with diseases of the central and peripheral nervous system. Xadago (safinamide) has received marketing authorization for the treatment of Parkinsons disease in the European Union Switzerland and the USA and is commercialized by Newrons Partner Zambon. Newron also has a strong pipeline of promising treatments for rare disease patients at various"
YouTube Link 2018-02-16T15:11Z [----] followers, [----] engagements
"Four Clinical Trials Testing Risdiplam Across Various SMA Subtypes Dalia Moawad MD Executive Director Head of Neurological Rare Diseases Medical Affairs at Genentech outlines the companys Evrysdi (risdiplam) clinical development program. This program was designed to represent a broad spectrum of people living with spinal muscular atrophy (SMA). Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The absence of the SMN protein leads to cellular imbalances in motor"
YouTube Link 2021-04-15T23:31Z [----] followers, [---] engagements
"Hereditary Angioedema (HAE) Highlights from ACAAI [----] Annual Meeting This accredited CME activity led by Jonathan Bernstein MD Professor of Medicine at the University of Cincinnati provides a summary of the latest information about hereditary angioedema (HAE) that was presented at the American College of Allergy Asthma & immunology [----] Annual Scientific Meeting (ACAAI 2021). Since to the Covid-19 pandemic limited the ability for ACAAI members to commit fully to the 5-day event this program provides a concise means to share the clinically relevant information presented at ACAAI [----] with"
YouTube Link 2025-10-06T15:22Z [----] followers, [--] engagements
"Immune Thrombocytopenia (ITP) Research Highlights: ISTH [----] This accredited CME program highlights the latest clinical research about immune thrombocytopenia (ITP) a rare thrombotic disorder. Led by Shruti Chaturvedi MD this program provides a summary of clinically relevant data presented at the International Society of Thrombosis and Haemostatis Congress (ISTH 2025) that can enhance the care of patients with ITP. This program is supported by an educational grant from Sanofi. To receive CME credit go to"
YouTube Link 2025-10-07T17:39Z [----] followers, [---] engagements
"Updated Gene Therapy Trial for GM1 Gangliosidosis Samiah Al-Zaidy MD Vice President of Clinical Development and Lead on the Passage Bio GM1 Gangliosidosis (GM1) Program discusses the updated data from Imagine-1 evaluating PBGM01 in GM1 which was presented at WORLDSymposium [----]. GM1 is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene which encodes the lysosomal enzyme beta-galactosidase (-gal). Reduced -gal activity results in the accumulation of GM1 gangliosides in neurons causing rapidly progressive neurodegeneration. Progressive damage is also seen in the heart"
YouTube Link 2023-04-12T14:56Z [----] followers, [---] engagements
"Alnylam and the PH1 Community Waiting for the FDA to Approve Lumasiran Pritesh J. Gandhi PharmD of Alnylam Pharmaceuticals explains the companys hope that lumasiran obtains FDA approval to treat primary hyperoxalaluria type [--] (PH1). A PDUFA data is set for December [--] [----]. PH1 is a PH1 is a rare genetic disease in which excessive oxalate production leads to painful and recurrent kidney stones. These recurrent stones increase the chance of hematuria urinary tract infections and end stage renal disease (ESRD). Lumasiran is an RNAi drug that targets hydroxyacid oxidase [--] (HAO1) the gene that"
YouTube Link 2020-11-23T18:00Z [----] followers, [--] engagements
"Horizon Therapeutics Personal Approach to Rare Diseases Elizabeth Thompson PhD at Horizon Therapeutics explains why rare diseases like thyroid eye disease (TED) are at the heart of the companys mission. TED is a rare autoimmune disease causing permanent facial disfigurement severely affecting patients quality of life and daily function. The disease often presents suddenly with an avalanche of endocrine and ophthalmic symptoms impairing normal life. In January [----] the U.S. Food and Drug Administration (FDA) approved Horizons Tepezza (teprotumumab trbw) the first drug indicated to treat"
YouTube Link 2021-01-15T21:13Z [----] followers, [---] engagements
"Positive Preliminary Results for Gene Therapy in Auditory Neuropathy Spectrum Disorder Lawrence Lustig MD Otolaryngology-Head & Neck Surgery at Columbia University discusses preliminary results from the CHORD trial testing the safety efficacy and tolerability of investigational gene therapy DB-OTO in children with otoferlin-related auditory neuropathy. Auditory neuropathy spectrum disorder (ANSD) is a rare condition that can affect a person's ability to hear. Although sounds enter the inner ear normally signals from the inner ear to the brain are not transmitted properly. As a result the"
YouTube Link 2024-06-05T13:26Z [----] followers, [---] engagements
"Mezagitamab in Patients With Immune Thrombocytopenia David Kuter MD DPhil Director of Clinical Hematology at Massachusetts General Hospital discusses recent results of a trial of mezagitamab in patients with immune thrombocytopenia (ITP). ITP is an autoimmune bleeding disorder characterized by too few platelets in the blood. Symptoms may include bruising nosebleed or bleeding in the mouth bleeding into the skin and abnormally heavy menstruation. Rarely ITP may become a chronic ailment in adults and reappear even after remission. Mezagitamab is a fully human immunoglobulin IgG1 monoclonal"
YouTube Link 2025-07-10T13:36Z [----] followers, [---] engagements
"New Staging Tool for Cutaneous T-cell Lymphoma (PROBEinCTCL) Greg Palko Vice President and Oncology Franchise Head of Kyowa Kirin North America discusses a new cutaneous T-cell lymphoma (CTCL) Staging Tool. CTCL is a rare group of malignancies that attack the bodys immune lymphatic system affecting both B-cells and T-cells. The underlying cause of CTCL is not fully understood. Genetic causes are suspected but these issues appear to be sporadic mutations for the most common forms of CTCL. The most common subtypes of CTCL are Szary syndrome and mycosis fungoides. Common symptoms include"
YouTube Link 2025-09-17T18:02Z [----] followers, [---] engagements
"ASH 2022: Talquetamab Showing Promise in Multiple Myeloma Clinical Trial Ajai Chari MD Professor of Medicine and Director of Clinical Research Multiple Myeloma Program Mount Sinai School of Medicine discusses results from the phase 1/2 MonumenTAL-1 clinical trial. These results were recently presented at this years American Society of Hematology Meeting & Exposition (ASH 2022). Multiple myeloma is a rare blood cancer associated with uncontrolled growth of plasma cells. Symptoms of multiple myeloma may include: bone pain (particularly in the chest and spine) frequent infections weakness or"
YouTube Link 2022-12-14T12:00Z [----] followers, [---] engagements
"Clinical Trial Evaluating Investigational AVB-101 in Patients With FTD James Brad Elder MD Director of Neurosurgical Oncology at the Ohio State University Comprehensive Cancer Center discusses a clinical trial evaluating the investigational gene therapy AVB-101 in patients with frontotemporal dementia (FTD). FTD is a neurodegenerative disorder associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include changes in social behavior and personality and/or problems with language. People with behavior changes may have disinhibition apathy and loss of empathy"
YouTube Link 2024-07-22T18:37Z [----] followers, [---] engagements
"Epstein-Barr virus associated post-transplant lymphoproliferative disorder (EBV+ PTLD) Mohamad Mohty MD PhD Professor of Hematology at Sorbonne University and Head of the Hematology and Cellular Therapy Department at the Saint Antoine Hospital in Paris discusses EBV+ PTLD is an aggressive lymphoma that occurs following bone marrow transplant (also known as hematopoietic stem cell transplant or HCT) or solid organ transplant (SOT). Two Phase [--] clinical studies are underway (MATCH and ALLELE) to evaluate tab-cel in patients with EBV+ PTLD who have failed rituximab following HCT or SOT. In a"
YouTube Link 2018-12-23T12:14Z [----] followers, [----] engagements
"Trofinetide Proposed Mechanism of Action in Rett Syndrome Kathie Bishop PhD Chief Scientific Officer Acadia Pharmaceuticals discusses the proposed mechanism of action of trofinetide an investigational treatment for Rett syndrome. Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first [--] to [--] months of life followed by a developmental plateau and then rapid regression in language and motor skills. As Dr. Bishop explains trofinetide is a synthetic analog of the aminoterminal"
YouTube Link 2022-03-15T10:02Z [----] followers, [----] engagements
"Plans for Two Phase [--] Studies Testing Oxypurinol To Treat ADPKD Announced Allen Davidoff PhD CEO of XORTX Therapeutics discusses two phase [--] studies set to launch in the next two years evaluating oxypurinol in patients with autosomal dominant polycystic kidney disease (ADPKD). ADPKD is a genetic disorder characterized by the formation of cysts in the kidneys. The most common symptoms hypertension flank pain hematuria and kidney insufficiency are caused by cyst formation. In most patients ADPKD leads to end-stage renal disease which requires either dialysis or a kidney transplant. ADPKD is"
YouTube Link 2023-02-22T15:25Z [----] followers, [---] engagements
"Glyn Edwards of Summit Therapeutics Discusses Endpoints of DMD Trials Glyn Edwards of Summit Therapeutics discusses endpoints of Duchenne muscular dystrophy (DMD) clinical trials. DMD is one of the most common fatal genetic disorders diagnosed in children around the world. DMD is an X-linked disease meaning that it predominantly affects males and it results in the progressive wasting of muscles throughout the body. The disease has an estimated incidence of [--] in [----] and a patient population in the developed world of approximately [-----]. Approximately two thirds of new DMD cases are due to"
YouTube Link 2018-03-09T20:49Z [----] followers, [--] engagements
"Latest Results Regarding Immune Thrombocytopenia David J. Kuter MD DPhil discusses the latest results regarding immune thrombocytopenia (ITP) presented at ASH [----]. ITP is an autoimmune bleeding disorder characterized by too few platelets in the blood. Symptoms may include bruising nosebleed or bleeding in the mouth bleeding into the skin and abnormally heavy menstruation. Rarely ITP may become a chronic ailment in adults and reappear even after remission. Dr. Kuter provided an overview of clinically relevant data about ITP presented at the ASH [----] meeting. LUNA [--] Clinical Trial LUNA [--] is"
YouTube Link 2025-01-13T16:23Z [----] followers, [---] engagements
"Alnylam Pharma and the Science of RNAi Dr. John Maraganore CEO of Alnylam discusses RNA interference (RNAi) a breakthrough in understanding how genes are regulated in cells. It also represents a completely new approach to drug discovery and development. [--] Key Features of an RNAi Therapeutics Approach [--]. The ability to harness a natural pathway. RNAi is a natural pathway involved in regulation of gene expression in all mammalian cells and is mediated by small interfering RNA (siRNA) molecules. By harnessing this natural biologic pathway RNAi therapeutics can be readily designed to be highly"
YouTube Link 2018-04-15T14:22Z [----] followers, [---] engagements
"Signs and Symptoms of Pulmonary Arterial Hypertension Roxana Sulica MD Associate Professor Department of Medicine and Director Pulmonary Hypertension at NYU Langone in New York City discusses the signs and symptoms of pulmonary arterial hypertension (PAH) a progressive condition that affects the heart and lungs. PAH is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dyspnea) during exertion and fainting spells. As the condition"
YouTube Link 2018-01-23T22:09Z [----] followers, [----] engagements
"Aquestive Therapeutics Clinical Pipeline (ALS LGS Epilsepsy) Aquestive Therapeutics is a specialty pharmacy company that is highly focused on providing treatment options for persons unable to properly swallow medicine. In this video Daniel Barber is Chief Operating Officer at Aquestive describes the three medications they have in development. The first is Sympazan (clobazam) for treating Lennox-Gastaut syndrome. The second is Exservan (riluzole) for treating amyotrophic lateral sclerosis (ALS) and the third is Libervant (diazepam) to manage breakthrough seizures. Aquestives drug delivery"
YouTube Link 2019-10-04T10:31Z [----] followers, [---] engagements
"Jan-Anders Karlsson Discusses Verona Pharma Verona Pharma is a clinical-stage biopharmaceutical company focused on the development and commercialization of innovative therapeutics for the treatment of respiratory diseases with significant unmet medical needs. Vermona's lead candidate RPL554 is a new generation of drugs with a novel mode of action and has the potential to provide relief for the many patients suffering from respiratory conditions such as chronic obstructive pulmonary disease (COPD) cystic fibrosis (CF). RPL554 is a first-in-class inhaled dual inhibitor of the enzymes"
YouTube Link 2018-02-18T14:47Z [----] followers, [---] engagements
"Positive Interim Data from Phase [--] Trial of Oral Drug for PKU Jerry Vockley MD PhD Head of the Division of Medical Genetics at UPMC Childrens Hospital of Pittsburgh gives an overview of the treatment landscape for phenylketonuria (PKU) going further into detail about the mechanism of action of SYNB1618 an oral drug being investigated for treatment of this disease. PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body which can cause significant organ damage especially in the central"
YouTube Link 2021-12-09T11:08Z [----] followers, [---] engagements
"Trofinetide Mechanism of Action to Treat Rett Syndrome Kathie Bishop PhD Chief Scientific Officer Acadia Pharmaceuticals describes the mechanism of action of trofinetide an orphan drug in development to treat Rett syndrome which was recently assigned a PDUFA date of March [--] [----]. Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first [--] to [--] months of life followed by a developmental plateau and then rapid regression in language and motor skills. As Dr. Bishop explains"
YouTube Link 2022-10-06T11:39Z [----] followers, [----] engagements
"Glyn Edwards of Summit Therapeutics Discusses the PhaseOut DMD Trial Glyn Edwards of Summit Therapeutics discusses his company's Duchenne Muscular Dystrophy (DMD) program. DMD is one of the most common fatal genetic disorders diagnosed in children around the world. DMD is an X-linked disease meaning that it predominantly affects males and it results in the progressive wasting of muscles throughout the body. The disease has an estimated incidence of [--] in [----] and a patient population in the developed world of approximately [-----]. Approximately two thirds of new DMD cases are due to inherited"
YouTube Link 2018-02-15T15:46Z [----] followers, [--] engagements
"SIERRA Phase [--] Trial Update Sandesh Seth Executive Chairman of Actinium Pharmaceuticals discusses the SIERRA (Study of Iomab-B in Elderly Relapsed or Refractoy AML) trial a multi-center randomized controlled pivotal Phase [--] study of Iomab-B in patients with relapsed or refractory Acute Myeloid Leukemia (AML) who are over the age of [--]. The Company established an agreement with the FDA that the path to a Biologics License Application (BLA) submission could include the SIERRA trial if it is successful. The primary endpoint in the pivotal Phase [--] trial is durable complete remission defined as a"
YouTube Link 2017-03-26T20:40Z [----] followers, [---] engagements
"Paroxysmal Nocturnal Hemoglobinuria (PNH) Pathophysiology Symptoms and Diagnosis Federico Grossi MD chief medical officer at Apellis Pharmaceuticals discusses the pathophysiology of paroxysmal nocturnal hemoglobinuria (PNH). Dr. Grossi also describes the typical symptoms and diagnostic journal that PNH patients must endure. PNH is a rare genetic blood disorder characterized by hemolytic anemia thrombosis and impaired bone marrow function. For more information about PNH and other rare blood disorders visit checkrare.com/diseases/hematologic-disorders/"
YouTube Link 2020-07-24T11:40Z [----] followers, [----] engagements
"Fibromuscular Dysplasia (FMD): Signs and Symptoms and Recent Research in this Rare Disorder Jeffrey W Olin DO Professor of Medicine at the Icahn School of Medicine at Mount Sinai discusses the signs and symptoms of fibromuscular dysplasia (FMD) and recent research in this rare condition. FMD is characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow. The carotid arteries which pass through the neck and supply blood to the brain are commonly affected. Arteries within the brain and kidneys can also be affected. Some"
YouTube Link 2019-05-13T11:37Z [----] followers, [----] engagements
"Submission of New Drug Application: Rusfertide for Polycythemia Vera Dinesh Patel PhD CEO of Protagonist Therapeutics discusses the New Drug Application (NDA) submission to the US Food and Drug Administration (FDA) for rusfertide to treat adults with polycythemia vera (PV). PV is characterized by excess red blood cells in the bloodstream increasing the risk for blood clots. Most cases of PV are acquired and occur more frequently in men than in women. The condition has been associated with genetic changes in the JAK2 and TET2 genes. Rusfertide is an investigational first-in-class"
YouTube Link 2026-02-12T20:07Z [----] followers, [--] engagements
"Diagnosing and Managing Alpha-Mannosidosis Featuring Markey McNutt MD PhD This is the third of a four-part series focusing on alpha-mannosidosis. In this episode we feature Dr. Markey McNutt who will focus on the challenges of identifying and caring for patients with this rare disease. Dr. McNutt is a Clinical Geneticist at the University of Texas Southwestern Medical Center in Dallas. Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into"
YouTube Link 2025-10-07T17:22Z [----] followers, [--] engagements
"Rett Syndrome Is a Neurodevelopmental Disorder Not a Neurodegenerative Disorder: Why This Matters. Kathie Bishop PhD Chief Scientific Officer Acadia Pharmaceuticals explains that Rett syndrome is a neurodevelopmental disorder not a neurodegenerative one and why this is an important distinction. As Dr. Bishop explains Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first [--] to [--] months of life followed by a developmental plateau and then rapid regression in language and motor"
YouTube Link 2022-11-29T11:22Z [----] followers, [---] engagements
"The Importance of Determining the Etiology of Left Ventricular Hypertrophy John Jefferies MD of the University of Tennessee Health Science Center discusses the importance of determining the etiology of left ventricular hypertrophy(LVH) to determine if it is a genetic problem (such as Fabry disease). Fabry disease is a rare lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide. Common features of Fabry disease include acroparesthesias angiokeratomas hypohidrosis corneal opacity gastrointestinal problems tinnitus and hearing loss. Fabry disease also involves"
YouTube Link 2022-05-17T10:37Z [----] followers, [----] engagements
"Improving Health Equity in Hereditary Angioedema (HAE): A Panel Discussion This educational program is made possible by an unrestricted grant from Takeda Pharmaceuticals. Hereditary angioedema (HAE) is a rare genetic disease that results in immunologic attacks that can be life-threatening. HAE is the result of reduced levels of C1-inhibitor a protein involved in various physiological processes in plasma most notably with the complement system. C1-inhibitor also binds and inhibits plasma kallikrein and factor XIa thereby affecting bradykinin production. It is believed that the disruptions of"
YouTube Link 2025-10-07T17:39Z [----] followers, [---] engagements
"IgA Nephropathy Treatment Options Andy Udell President of Calliditas Therapeutics North America discusses IgA nephropathy and their Tarpeyo (budesonide) treatment. He also talks about Calliditas Phase [--] NefIgArd Study. Immunoglobulin A (IgA) nephropathy is a rare autoimmune kidney disorder caused by the accumulation of IgA in the kidneys. IgA nephropathy typically has little to no symptoms in the early stages. A common early presenting symptom is blood in the urine. If left unmanaged the disease can progress to end-stage kidney disease. Researchers have linked several disorders with IgA"
YouTube Link 2024-01-10T08:00Z [----] followers, [----] engagements
"The LAVENDER Trial: Data That Supported the FDA Approval of Trofinetide to Treat Rett Syndrome Ponni Subbiah MD MPH Chief Medical Officer at Acadia Pharmaceuticals discusses the results of the LAVENDER trial which led to the approval of trofinetide (DAYBUE) in patients with Rett syndrome. Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have develop normally during the first [--] to [--] months of life followed by a developmental plateau and then rapid regression in language and motor skills as synaptic connections deteriorate"
YouTube Link 2023-04-24T15:06Z [----] followers, [---] engagements
"Results From the PEGASUS Clinical Trial of Pegvaliase in Patients With PKU Kevin Eggan PhD Chief Scientific Officer at BioMarin discusses new results from the PEGASUS clinical trial of Palynziq (pegvaliase) for treating patients with phenylketonuria (PKU). PKU is a genetic metabolic disorder that increases the body's levels of phenylalanine. Phenylalanine is an amino acid of proteins. Humans cannot make phenyalanine but it is a natural part of the foods we eat. However people do not need all the phenyalanine they eat so the body converts extra phenylalanine to another harmless amino acid"
YouTube Link 2025-09-25T15:20Z [----] followers, [---] engagements
"The Origins of Orchard Pharmaceuticals A Unique Gene Therapy Company Bobby Gaspar MD chief scientific officer at Orchard Therapeutics describes the origins of the company and his involvement. Dr. Gaspar is a professor of paediatrics and immunology at the UCL Great Ormond Street Institute of Child Health in London UK. As an academic physician I was looking after children with very severe immune deficiencies and actually what we found was the children would either die of their disease or if there was a bone-marrow transplant then that could have side effects and they would die from some of the"
YouTube Link 2019-09-16T11:28Z [----] followers, [---] engagements
"Diagnosing Paroxysmal Nocturnal Hemoglobinuria (PNH) Christopher Patriquin MD Hematologist at Toronto General Hospital discusses the diagnostic process for paroxysmal nocturnal hemoglobinuria (PNH) including symptoms that may suggest the disease. PNH is a rare life-threatening blood disorder characterized by hemolysis. Persistently low hemoglobin levels can result in severe fatigue and difficulty breathing. Additionally individuals with PNH are susceptible to thrombotic events and many have some degree of bone marrow dysfunction. As Dr. Patriquin explains despite increased awareness of the"
YouTube Link 2023-01-05T18:51Z [----] followers, [----] engagements
"Phase [--] Trial Testing Probiotic to Treat Phenylketonuria (PKU) Is Enrolling Patients Cary Harding MD Professor of Molecular and Medical Genetics at Oregon Health & Science University (OHSU) highlights the data evaluating SYNB1984 to treat phenylketonuria (PKU). PKU is a rare metabolic disease caused by uncontrollable levels of the amino acid phenylalanine (Phe) which can lead to neurocognitive deficits. Despite two approved treatments most patients with PKU are either unresponsive to current therapies or these options present unacceptable safety risks such as anaphylaxis. Given that Phe is"
YouTube Link 2023-06-24T01:02Z [----] followers, [---] engagements
"Mother of Two SMA Children Compares Their Diagnostic Journeys Emily Holtvluwer mother of two young children with spinal muscular atrophy (SMA) discusses the two different diagnostic journeys her kids went through to get a diagnosis. Her oldest child was not diagnosed for several months after symptoms began to appear while her second child was diagnosed in utero. As Ms. Hotvluwar explains newborn screening for SMA would have helped her oldest daughter immensely in getting a diagnosis more quickly and receive treatment before many of her motor neurons had atrophied. SMA is a rare inherited"
YouTube Link 2021-03-01T19:28Z [----] followers, [----] engagements
"Glyn Edwards Discusses Summit Therapeutics Glyn Edwards of Summit Therapeutics discusses his company. DMD is one of the most common fatal genetic disorders diagnosed in children around the world. DMD is an X-linked disease meaning that it predominantly affects males and it results in the progressive wasting of muscles throughout the body. The disease has an estimated incidence of [--] in [----] and a patient population in the developed world of approximately [-----]. Approximately two thirds of new DMD cases are due to inherited mutations with the remaining one third resulting from spontaneous"
YouTube Link 2018-02-26T21:31Z [----] followers, [--] engagements
"Elranatamab in Black or African-American Patients with Multiple Myeloma Asya-Nina Varshavsky-Yanovsky MD PhD Assistant Professor and Myeloma Program Lead at Fox Chase Cancer Center in Philadelphia PA discusses the safety of elranatamab in Black or African-American patient subgroups. Multiple myeloma is a form of cancer caused by abnormal and uncontrolled growth of plasma cells in the bone marrow. The most common symptom is anemia which can also cause fatigue and shortness of breath among other symptoms. The underlying cause of multiple myeloma is currently unknown. Factors that are associated"
YouTube Link 2024-01-14T08:00Z [----] followers, [---] engagements
"Glyn Edwards of Summit Therapeutics Provides an Update on the PhaseOut DMD Trial Glyn Edwards of Summit Therapeutics discusses his company's Duchenne Muscular Dystrophy (DMD) program. DMD is one of the most common fatal genetic disorders diagnosed in children around the world. DMD is an X-linked disease meaning that it predominantly affects males and it results in the progressive wasting of muscles throughout the body. The disease has an estimated incidence of [--] in [----] and a patient population in the developed world of approximately [-----]. Approximately two thirds of new DMD cases are due to"
YouTube Link 2018-02-18T14:49Z [----] followers, [--] engagements
"Rett Syndrome Requires Multiple Specialists and Therapists Damian M. May PharmD MBA Senior Director Of Health Economics and Outcomes Research at Acadia Pharmaceuticals discusses the multidisciplinary approach to care needed for Rett syndrome. Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first [--] to [--] months of life followed by a developmental plateau and then rapid regression in language and motor skills. Common symptoms include hand-wringing; fits of screaming and"
YouTube Link 2022-04-13T11:28Z [----] followers, [---] engagements
"HDFN: Outcomes of Intrauterine Transfusion and Patient Experiences May Lee Tjoa PhD Senior Global Medical Affairs Leader: Nipocalimab and Maternal-Fetal Immunology at Johnson & Johnson discusses data on hemolytic disease of the fetus and newborn (HDFN) from the [----] ISUOG World Congress on Ultrasound in Obstetrics and Gynecology. HDFN is a rare condition characterized by the destruction of fetal red blood cells due to maternal-fetal blood group incompatibility. The condition may occur in persons with Rh or ABO blood types. Rh incompatibility usually affects subsequent pregnancies due to"
YouTube Link 2025-10-06T19:42Z [----] followers, [---] engagements
"Finding Foods to Feed a Child with PKU Kala McWain mother of a child with phenylketonuria (PKU) talks about the disease and the challenges of finding and adhering to a very expensive diet. PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body that can lead to significant organ damage especially in the central nervous system. If left untreated individuals with PKU can develop chronic intellectual neurodevelopmental and psychiatric disabilities as well as seizures and heart problems."
YouTube Link 2022-08-19T14:51Z [----] followers, [----] engagements
"Potential Market for Actinium's Iomab-B Sandesh Seth Executive Chairman of Actinium Pharmaceuticals discusses the potential market for Iomab-B. Iomab-B via the monoclonal antibody BC8 targets CD45 an antigen widely expressed on leukemia and lymphoma cancer cells B cells and stem cells. BC8 is linked to the radioisotope iodine-131 and once attached to its target cells emits energy that travels a relatively long distance destroying a patient's cancer cells and ablating their bone marrow. By carrying iodine-131 directly to the bone marrow in a targeted manner Actinium believes Iomab-B will avoid"
YouTube Link 2017-03-31T18:13Z [----] followers, [---] engagements
"Fibromuscular Dysplasia (FMD) Registry Jeffrey W Olin DO Professor of Medicine at the Icahn School of Medicine at Mount Sinai discusses the Fibromuscular Dysplasia Society of America (FMDSA) and it's FMD Registry. The goals of this registry are to identify patient characteristics associated with FMD potential markers of the disease and commonly used imaging and treatment modalities among others. Michigan Clinical Outcomes Research and Reporting Program (MCORRP) is the coordinating center for the FMD Registry. Beginning initially with [--] sites the first patient was entered into the online"
YouTube Link 2019-05-13T11:38Z [----] followers, [---] engagements
"Conditioning Agent (JSP191) For Stem Cell Transplants Shows Promise in Patients With Fanconi Anemia Ronald Martell President and CEO of Jasper Therapeutics discusses the positive data from the ongoing phase 1/2 study testing JSP191 as a conditioning agent in the treatment of Fanconi anemia. These data were presented at the annual conference of the Inborn Errors Working Party (IEWP) Annual Conference [----]. Fanconi anemia is a rare blood disorder often associated with a progressive deficiency of all bone marrow production of blood cells red blood cells white blood cells and platelets. The"
YouTube Link 2022-10-22T14:42Z [----] followers, [---] engagements
"Current and Emerging Therapies for PKU (Including SYNB1618) Jerry Vockley MD PhD Head of the Division of Medical Genetics at UPMC Childrens Hospital of Pittsburgh gives an overview of the treatment landscape for phenylketonuria (PKU) going further into detail about the mechanism of action of SYNB1618 an oral drug being investigated for treatment of this disease. PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body which can cause significant organ damage especially in the central"
YouTube Link 2022-01-14T11:32Z [----] followers, [----] engagements
"What Is Autosomal Dominant Polycystic Kidney Disease (ADPKD) Allen Davidoff PhD CEO of XORTX Therapeutics gives an overview of autosomal dominant polycystic kidney disease (ADPKD). As Dr. Davidoff explains ADPKD is a genetic disorder characterized by the formation of cysts in the kidneys. The most common symptoms hypertension flank pain hematuria and kidney insufficiency are caused by cyst formation. In most patients ADPKD leads to end-stage renal disease which requires either dialysis or a kidney transplant. ADPKD is caused by mutations of one of two genes responsible for proper function of"
YouTube Link 2023-02-20T18:38Z [----] followers, [---] engagements
"Atumelnant for the Treatment of Congenital Adrenal Hyperplasia Alan Krasner MD Chief Endocrinologist at Crinetics Pharmaceuticals discusses atumelnant for the treatment of patients with congenital adrenal hyperplasia (CAH). CAH is a genetic condition characterized by an enzyme deficiency in the adrenal glands. This causes underproduction of cortisol and the overproduction of androgens. Symptoms may include ambiguous genitalia at birth dehydration poor feeding diarrhea vomiting and other health problems. People with milder forms may not be diagnosed with the condition until adolescence or"
YouTube Link 2025-08-22T16:17Z [----] followers, [---] engagements
"Diagnosis and Treatment of IgA Nephropathy Jai Radhakrishnan MD Nephrologist and Professor at Columbia University Medical Center discusses diagnosis and treatment of IgA nephropathy (IgAN). IgAN is an autoimmune kidney disorder characterized by the settling of IgA protein in the kidneys. In most instances the cause of this condition is unknown; however certain disorders have been linked with IgAN such as cirrhosis of the liver celiac disease and HIV infection. Familial IgAN is linked to genetic material on the long arm of chromosome [--]. In the early stages IgAN has no symptoms making diagnosis"
YouTube Link 2025-10-13T19:58Z [----] followers, [---] engagements
"Promising Top-Line Results Testing Trofinetide to Treat Rett Syndrome Kathie Bishop PhD Chief Scientific Officer at Acadia Pharmaceuticals discusses the positive top-line results from the pivotal phase [--] Lavender trial testing the efficacy of trofinetide to treat Rett syndrome. Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first [--] to [--] months of life followed by a developmental plateau and then rapid regression in language and motor skills. Common symptoms include"
YouTube Link 2022-01-26T11:40Z [----] followers, [----] engagements
"Alnylam's New RNAi Therapy Editor's Note: This interview was conducted at #Bio2018. Please pardon the background noise. Barry Greene President of Alnylam provides RNA interference (RNAi) and the first ever new class of innovative medicines to potentially enter the market this year. Specifically Patisiran is an investigational RNAi therapeutic targeting transthyretin (TTR) in development for the treatment of hereditary ATTR amyloidosis (hATTR amyloidosis). Patisiran is the only investigational medicine in our pipeline that utilizes a lipid nanoparticle (LNP) formulation and is administered via"
YouTube Link 2018-08-03T12:26Z [----] followers, [---] engagements
"Testing AOC [----] to Treat Myotonic Dystrophy Type [--] (DM1) Art Levin PhDdistinguished scientist and strategic leader and member of the companys board of directors at Avidity Biosciences discusses positive data from the preliminary assessment of the phase 1/2 MARINA trial of AOC [----] in patients with myotonic dystrophy type [--] (DM1). DM1 is a form of muscular dystrophy characterized by myotonia or the inability for muscles to relax as well as muscle weakness. Other common symptoms include respiratory problems fatigue hypersomnia cardiac abnormalities severe gastrointestinal complications and"
YouTube Link 2023-03-08T22:14Z [----] followers, [---] engagements
"New Therapeutic Technology Provides Hope for First-Ever Approved Treatment for FSHD Sarah Boyce President and CEO of Avidity Biosciences gives an overview of facioscapulohumeral muscular dystrophy (FSHD) and the technology her company is developing as a potential treatment for the disease. FSHD is a rare progressive musculoskeletal disease in which persons initially lose muscle strength in the face shoulders arms and trunk but later the disease progresses throughout the lower body. FSHD is due to the mis-expression of DUX4 in skeletal muscles. There are currently no approved treatments for"
YouTube Link 2021-03-22T22:52Z [----] followers, [----] engagements
"Alnylam Pharmaceuticals CMO Dr. Akshay Vaishnaw Explains RNAi Akshay Vaishnaw MD PhD is Chief Medical Officer at Alnylam Pharmaceuticals a company focused on RNA interference (RNAi) to develop new therapeutics for genetic conditions. At the BIO International Convention held in Philadelphia PA we talked to Dr Vaishnaw about the company and its RNAi technology. RNAi is a nature part of our cells. We currently have RNA segments that function to interfere or block the synthesis of certain proteins. These segments are called RNAi. Using that knowledge RNAi can also be used to interfere or block"
YouTube Link 2019-06-27T14:59Z [----] followers, [----] engagements
"Current Treatment Options for Patients With Cushings Syndrome Mario Maldonado MD Head of Clinical Development for Global Endocrinology at Recordati Rare Diseases discusses current treatment options for patients with Cushings syndrome. Cushing's syndrome is a rare endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol. Signs and symptoms of Cushing's syndrome include upper body obesity fatigue muscle weakness high blood pressure backache high blood sugar easy bruising and bluish-red stretch marks on the skin. Affected women may also experience"
YouTube Link 2024-07-08T16:35Z [----] followers, [----] engagements
"Recordati Rare Disease Initiatives Mohamed Ladha President and General Manager for Recordati Rare Diseases North America discusses the companys rare disease initiatives. The U.S. branch of Recordati was established in [----] with a focus on products to treat patients with rare inherited metabolic disorders including NAGS deficiency cystinosis and acute intermittent porphyria. In [----] the company expanded into the endocrinology space with products for diseases such as acromegaly Cushings disease Cushings syndrome and Castleman disease. Most recently Recordati has added hematological conditions"
YouTube Link 2025-08-22T16:07Z [----] followers, [---] engagements
"Gene Therapy For Fabry Disease Targets the Heart Raphael Schiffmann MD of 4D Molecular Therapeutics discusses the cardiac effects of 4D-310 in adults with Fabry disease. Fabry disease is a rare lysosomal disorder that results in the buildup of globotriaosylceramide. Characteristic features of Fabry disease include acroparesthesias angiokeratomas hypohidrosis corneal opacity gastrointestinal problems tinnitus and hearing loss. Fabry disease also involves potentially life-threatening complications involving the heart and kidneys. 4D-310 uses a targeted and evolved AAV vector C102 to deliver a"
YouTube Link 2023-03-08T15:31Z [----] followers, [---] engagements
"Efficacy of Verkazia to Treat Rare Eye Infection (Vernal Keratoconjunctivitis) Sherif El-Harazi MD Ophthalmologist and Medical Director and Founder of Lugene Eye Institute and Global Research Management discusses cyclosporine ophthalmic emulsion 0.1% eye drops (Verkazia) which is now available in the United States for the treatment of vernal keratoconjunctivitis (VKC) in children and adults. VKC is a rare and recurrent allergic eye condition most common in children and adolescents that causes severe inflammation of the surface of the eye and may prevent those affected from participating in"
YouTube Link 2022-05-12T10:01Z [----] followers, [----] engagements
"Molecular Profiling Artificial Intelligence and The Precision Oncology Alliance Chadi Nabhan MD of Caris Life Sciences summarizes the Caris Precision Oncology Alliance and some of the abstracts the alliance presented at ASCO [----]. The Precision Oncology Alliance includes partnerships with [--] cancer centers and academic institutions. Working with Caris Life Sciences a company that brings together molecular profiling and artificial intelligence to advance precision medicine the alliance was very active at the recent ASCO conference held in Chicago. As noted by Dr. Nabhan numerous abstracts were"
YouTube Link 2023-06-22T14:53Z [----] followers, [---] engagements
"The Bespoke Gene Therapy Consortium P.J. Brooks PhD Acting Director of the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences (NCATS) describes the Bespoke Gene Therapy Consortium (BGTC). BGTC program is a private-public initiative that is designed to bring together researchers from different perspectives interests and expertise to create gene therapies for rare diseases that otherwise would be not financial viable. As Dr. Brooks explains very few rare diseases have FDA-approved treatments despite the fact that the majority of them are caused by known"
YouTube Link 2022-11-30T11:28Z [----] followers, [---] engagements
"Ipsen Biopharmaceuticals Patient-Focused Approach to Rare Diseases Stephanie Brown the SVP of rare diseases at Ipsen Biopharmaceuticals describes the companys commitment to working closely with patients to better understand their conditions. Rare disease is a unique space and we really get to know patients directly Brown said. We really try to understand what its like to walk in their shoes. Ipsen develops and markets medications used in oncology neuroscience and rare diseases as well as consumer healthcare products"
YouTube Link 2021-01-21T10:59Z [----] followers, [---] engagements
"Lysosomal Disorders and the Brain Ozlem Goker-Alpan MD Founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Raphael Schiffmann MD of the Texas Christian University discuss best practices to identify and treat neurologic problems associated with lysosomal disorders. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC) CheckRare CE and AffinityCE. This activity provides continuing education credit for physicians physician assistants nurses nurse practitioners and"
YouTube Link 2025-10-14T11:16Z [----] followers, [---] engagements
"Long-Term Efficacy and Safety of Cilta-Cel in Patients With Relapsed/Refractory Multiple Myeloma Ying Huang PhD CEO of Legend Biotech discusses updated results from the CARTIFAN-1 study evaluating cilta-cel in patients in China with relapsed/refractory multiple myeloma who have received [--] prior lines of therapy. These data were recently presented at the American Society of Hematology Meeting & Exposition (ASH 2022). Multiple myeloma is a blood cancer associated with uncontrolled growth of plasma cells. Abnormal plasma cells also known as myeloma cells interfere with the production of healthy"
YouTube Link 2022-12-23T12:23Z [----] followers, [---] engagements
"The Typical Diagnostic Journey for FSHD Patients Sarah Boyce President and CEO of Avidity Biosciences describes the common diagnostic process of an individual with facioscapulohumeral muscular dystrophy (FSHD). FSHD is a rare progressive musculoskeletal disease in which persons initially lose muscle strength in the face shoulders arms and trunk but later the disease progresses throughout the lower body. FSHD is due to the mis-expression of DUX4 in skeletal muscles. There are currently no approved treatments for the disease. As Ms. Boyce explains geneticists may be involved in the diagnostic"
YouTube Link 2021-03-29T18:44Z [----] followers, [----] engagements
"Current Clinical Trials For MPS I and II Mathias Schmidt PhD President and Chief Executive Officer of JCR USA describes their current clinical trials for patients with mucopolysaccharidosis (MPS) I and II. Mucopolysaccharidoses (MPSs) are a group of rare genetic lysosomal storage diseases. The disease is caused by an absence or malfunctioning of enzymes required to break down carbohydrates into proteins and simpler molecules. Over time these glycosaminoglycans collect in the cells blood brain and spinal cord and connective tissues. The result is permanent progressive cellular damage that"
YouTube Link 2024-03-04T16:31Z [----] followers, [---] engagements
"Why a Clinical Hold Put on Gene Therapy for Fabry Disease Raphael Schiffmann MD of 4D Molecular Therapeutics. Schiffmann discusses why the US Food and Drug Administration (FDA) put a hold on a phase [--] / [--] clinical trial testing 4D-310 a gene therapy in development that targets the heart in Fabry disease. Fabry disease is an inherited disorder that results from the buildup of globotriaosylceramide or GL-3. The disorder affects many parts of the body. Signs and symptoms may include acroparesthesias angiokeratomas hypohidrosis corneal opacity and hearing loss. Potentially severe complications"
YouTube Link 2023-03-08T16:25Z [----] followers, [---] engagements
"RNA-based Therapy for Dravet Syndrome Ann Barbier MD PhD Chief Medical Officer at CAMP4 Therapeutics discusses CAMP4s investigational RNA-based therapy for Dravet syndrome CMP-SCN (CO-3527). Dravet syndrome is a rare neurological condition that usually appears during the first year of life as frequent febrile seizures. As the condition progresses other types of seizures typically occur including myoclonus and status epilepticus. Moderate to severe cognitive impairment is also common. Most cases of Dravet syndrome occur due to a mutation of the SCN1A gene. It can be inherited in an autosomal"
YouTube Link 2022-06-10T10:40Z [----] followers, [---] engagements
"Ipsens Current Rare Disease Therapies: Approved and In Development Christelle Huguet PhD Head of Research and Development at Ipsen discusses the companys current approved orphan drugs and those in development for rare diseases. Ipsens work in the rare disease space aims to address areas of high unmet medical needs; such as in disease spaces where current standard of care falls short or in spaces where no therapy currently exists. Three such diseases are fibrodysplasia ossificans progressiva (FOP) and rare liver conditions such as primary biliary cholangitis (PBC) and progressive familial"
YouTube Link 2025-10-17T20:08Z [----] followers, [---] engagements
"Gene Therapy Trials for Gaucher Type [--] and Type [--] Now Recruiting Aimee Donald MBChB PhD Pediatrician at Royal Manchester Children's Hospital and Professor at the University of Manchester discusses the PROCEED and PROVIDE gene therapy trials testing PR001 in Gaucher disease patients. Gaucher disease is a rare lysosomal disorder due to reduced levels of glucocerebrosidase that leads to the accumulation of glucocerebroside in cells and certain organs. There are three types of Gaucher disease type [--] [--] and [--]. Gaucher disease type [--] mostly impacts the periphery. Gaucher disease type [--] impacts both"
YouTube Link 2023-04-05T16:59Z [----] followers, [---] engagements
"Its Constant Loss: FSHD Patient Talks about Her Struggles with the Disease As Amy explains in the second part of the interview due to the progressive nature of the disease she has lost the ability to enjoy many of the hobbies she loved such as golfing and painting - both of which she was incredibly good at. This Amy claims is the hardest part of FSHD; the loss of function which is directly paired with a loss of quality of life. To learn more about FSHD and other rare musculoskeletal diseases visit checkrare.com/diseases/musculoskeletal-diseases/ Amy Bekier facioscapulohumeral muscular"
YouTube Link 2021-03-29T17:14Z [----] followers, [---] engagements
"Clinical Research and Finding a Cure for Duchenne Muscular Dystrophy Debra Miller co-founder of CureDuchenne discusses some of the current clinical research in Duchenne muscular dystrophy (DMD) and the hope of a possible cure. Debra founded CureDuchenne in [----] with her husband after their only son was diagnosed with Duchenne. The funds CureDuchenne raises support tresearch programs aimed at treating and curing the disease. CheckRare CheckOprhan Debra Miller CureDuchenne clinical trials rDuchenne Muscular Dystropy DMD CheckRare CheckOprhan Debra Miller CureDuchenne clinical trials rDuchenne"
YouTube Link 2019-05-20T10:44Z [----] followers, [----] engagements
"Clinical Trials Testing Osilodrostat for the Treatment of Cushings Disease Maria Fleseriu MD Director of the Pituitary Center at Oregon Health and Science University discusses clinical trials testing osilodrostat for the treatment of Cushings disease. Cushings disease is a rare condition characterized by elevated levels of the cortisol hormone secreted by a tumor in the pituitary gland. It is characterized by signs and symptoms that may include: - Weight gain around the trunk and in the face - Stretch marks - Easy bruising - A hump on the upper back - Muscle weakness - Tiredness - Thin bones"
YouTube Link 2024-07-12T20:05Z [----] followers, [---] engagements
"Still's Disease Clinical Trial Len Walt Vice President Head of Medical Affairs Sobi in North America discusses his company's clinical trial testing anakinra in Still's disease a rare inflammatory disorder. Still's disease a disorder featuring inflammation is characterized by high spiking fevers salmon-colored rash that comes and goes and arthritis. Still's disease is also referred to as systemic-onset juvenile idiopathic arthritis. Still's disease was first described in children but it is now known to occur much less commonly in adults (in whom it is referred to as adult-onset Still's disease"
YouTube Link 2017-10-23T21:31Z [----] followers, [---] engagements
"Results From the Phase 1/2 Trial Testing AOC [----] to Treat Myotonic Dystrophy Type [--] Nicholas E. Johnson MD Associate Professor in the Department of Neurology at Virginia Commonwealth University summarizes data from the phase 1/2 MARINA trial testing AOC [----] in patients with myotonic dystrophy type [--] (DM1). DM1 is a progressive neuromuscular disease caused by a triplet repeat in the DMPK gene. That repetition leads to toxic levels of gain of function mRNA. Currently there are no approved treatments for DM1. Symptoms and severity are highly variable among patients however all forms of DM1 are"
YouTube Link 2023-05-30T14:22Z [----] followers, [---] engagements
"PH1 Community Still Excited One Year After the Approval of Lumasiran Jeroen Valkenburg General Manager of the Lumasiran program at Alnylam Pharmaceuticals discusses the reaction of the primary hyperoxaluria type [--] (PH1) community following the approval of lumasiran last November. PH1 is a rare genetic condition that is often difficult to diagnose since its main symptom is the development of kidney stones. These rare type of kidney stones are formed due to the build up of oxalate which normally is filtered through the kidneys and excreted. PH1 is due to mutations in the AGXT gene. As Mr."
YouTube Link 2021-12-02T11:36Z [----] followers, [---] engagements
"Updated Data from CARTITUDE-1 and CARTITUDE-2 Studies Testing Cilta-Cel in R/R Multiple Myeloma Ying Huang PhD CEO of Legend Biotech discusses updated results from the CARTITUDE-1 study and data from two cohorts in the CARTITUDE-2 study. Both of these studies are evaluating cilta-cel in patients with relapsed/refractory multiple myeloma. These data were recently presented at the American Society of Hematology Meeting & Exposition (ASH 2022). Multiple myeloma is a blood cancer associated with uncontrolled growth of plasma cells. Symptoms of multiple myeloma may include: bone pain (particularly"
YouTube Link 2023-01-09T17:24Z [----] followers, [---] engagements
"Recordatis Presentations at ENDO [----] Mario Maldonado MD Global Head of Clinical Development for Endocrinology at Recordati Rare Diseases discusses Recordatis presentations at ENDO [----]. LINC6 Clinical Trial LINC [--] is an ongoing prospective observational study evaluating the long-term safety and efficacy of osilodrostat over [--] years in [---] adult patients with Cushings disease (CD) and non-pituitary Cushings syndrome (non-PCS). Osilodrostat is a potent 11-hydroxylase inhibitor. Results were presented from a [--] year interim analysis. Treatment-related adverse events were reported [--] times in 34"
YouTube Link 2025-08-22T16:21Z [----] followers, [---] engagements
"Atacicept Shows Promise as IgA Nephropathy Treatment Jonathan Barratt PhD FRCP Professor of Renal Medicine University of Leicester UK describes the latest results of a phase 2b trial examining atacicept to treat immunoglobulin A (IgA) nephropathy. IgA nephropathy is a rare kidney disease characterized by build-up of IgA deposits. This buildup causes inflammation and damage to the glomeruli which in turn causes hematuria and proteinuria. This damage may lead to scarring of the nephrons which progresses slowly over many years. Eventually IgA nephropathy can lead to end-stage kidney disease. As"
YouTube Link 2023-03-08T19:12Z [----] followers, [----] engagements
"How Alnylam Works with Patient Advocacy Groups Editor's Note: This interview was conducted at #Bio2018. Please pardon the background noise. Barry Greene President of Alnylam discusses how his company works with advocacy groups in the diseases they are committed to. CheckRare CheckOrphan Alnylam Barry Greene Inclisiran Givosiran Patisiran CheckRare CheckOrphan Alnylam Barry Greene Inclisiran Givosiran Patisiran"
YouTube Link 2018-08-15T11:48Z [----] followers, [--] engagements
"FSHD Patient Encourages Others to Get Involved with Patient Advocacy Groups Amy Bekier facioscapulohumeral muscular dystrophy (FSHD) patient and Board Member of the FSHD Society advises patients to get involved with FSHD patient advocacy groups. FSHD is a rare progressive musculoskeletal disease in which persons initially lose muscle strength in the face shoulders arms and trunk but later the disease progresses throughout the lower body. FSHD is due to the mis-expression of DUX4 in skeletal muscles. There are currently no approved treatments for the disease. The FSHD Society is the worlds"
YouTube Link 2021-04-12T16:04Z [----] followers, [--] engagements
"The Prevalence of ENPP1 Deficiency Mark Kiel MD PhD chief science officer at Genomenon and Catherine Nester BSN VP of Physician and Patient Strategies at Inozyme Pharma discuss the prevalence of Ectonucleotide pyrophosphatase/ phosphodiesterase [--] (ENPP1) Deficiency. ENPP1 is an enzyme involved in the cleavage of ectonucleotides. When a person is deficient in this enzyme it can lead to a plethora of metabolic concerns. . Babies who present in utero or in infancy are typically diagnosed with generalized arterial calcification of infancy. Approximately half of infants with ENPP1 Deficiency die"
YouTube Link 2023-02-06T16:20Z [----] followers, [---] engagements
"Mechanism of Action of PLN-74809 to Treat Idiopathic Pulmonary Fibrosis (IPF) Eric LeFebvre MD Chief Medical Officer at Pliant Therapeutics describes the mechanism of action of PLN-74809 an orphan drug in development for treating patients with idiopathic pulmonary fibrosis (IPF). IPF is a chronic progressive fibrosing lung disease with few treatment options and a poor prognosis. Common symptoms of IPF include shortness of breath and difficulty performing daily activities such as walking and talking. Currently there is no pharmacological cure for IPF with neither of the approved two therapies"
YouTube Link 2022-09-06T10:49Z [----] followers, [---] engagements
"PTC Therapeutics Company Overview Mark Pykett PhD Chief Scientific Officer at PTC Therapeutics provides an overview of his company including its focus on rare diseases. Mark leads the research initiatives of PTC. Before joining the company in August [----] Mark held a number of executive positions including president and CEO of Agilis Biotherapeutics CEO of Navidea Biopharmaceuticals and president and CEO of Alseres Pharmaceuticals among others. Mark Pykett PTC Therapeutics CheckRare CheckOrphan rare diseases Duchenne DMD Mark Pykett PTC Therapeutics CheckRare CheckOrphan rare diseases Duchenne"
YouTube Link 2019-05-24T11:05Z [----] followers, [----] engagements
"Patients as the Center of the Drug Development Process Dr. John Maraganore CEO of Alnylam Pharmaceuticals discusses how patients have become central to the drug development process. CheckRare CheckOrphan Dr. John Maraganore Alnylam Pharma RNAi CheckRare CheckOrphan Dr. John Maraganore Alnylam Pharma RNAi"
YouTube Link 2018-04-20T12:23Z [----] followers, [--] engagements
"Catalyst Biosciences: Developing Novel Medicines to Address Hematology Indications Nassim Usman PhD President and Chief Executive Officer of Catalyst Biosciences provides an overview of his company and its focus on protease-based therapeutic candidates. Catalyst is a clinical-stage biopharmaceutical company developing novel medicines to address hematology indications. Catalyst is focused on the field of hemostasis including the subcutaneous prophylaxis of hemophilia and facilitating surgery in individuals with hemophilia. CheckRare CheckOrphan Nassim Usman PhD Catalyst Biosciences hemophilia"
YouTube Link 2019-02-15T17:50Z [----] followers, [---] engagements
"Initiation of Biomarker Cohort in Clinical Trial for Facioscapulohumeral Muscular Dystrophy Steve Hughes MD Chief Medical Officer of Avidity Biosciences discusses the initiation of a biomarker cohort in the Phase 1/2 FORTITUDE trial of delpacibart braxlosiran (del-brax) in patients with facioscapulohumeral muscular dystrophy (FSHD). FSHD is a disorder characterized by muscle weakness and atrophy. This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-) shoulder blades (scapulo-) and upper arms (humeral). The signs and symptoms of FSHD"
YouTube Link 2024-11-25T16:53Z [----] followers, [---] engagements
"Alnylam Pipeline: Fitusiran and Inclisiran Pushkal Garg MD Chief Medical Officer at Alnylam discusses two of his company's pipeline products: fitusiran (for hemophilia and other rare bleeding disorders) and inclisiran (for hypercholesterolemia). Fitusiran is an investigational once-monthly subcutaneously administered RNAi therapeutic targeting antithrombin (AT) in development for the treatment of hemophilia A and B with and without inhibitors. Fitusiran also has the potential to be used for rare bleeding disorders. Fitusiran is designed to lower levels of AT with the goal of promoting"
YouTube Link 2019-02-08T15:37Z [----] followers, [---] engagements
"Fragile X Syndrome Overview and the CONNECT-FX Clinical Trial Armando Anido Chief Executive Officer at Zynerba Pharmaceuticals discusses Fragile X syndrome a genetic condition involving changes in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. Fragile X syndrome is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. Other signs and symptoms may include symptoms of autism spectrum disorders seizures and characteristic"
YouTube Link 2019-02-16T12:50Z [----] followers, [---] engagements
"Gene Therapy Clinical Trial: Promising Results for Pompe Disease Dwight Koeberl MD PhD of Duke University School of Medicine provides an update on the phase [--] study of gene therapy to treat late-onset Pompe disease. As Dr. Koebel explains in this video the preliminary results in the low-dose cohort show the gene therapy to be safe and that all three patients were able to stop taking enzyme replacement therapy after being treated with gene therapy. The gene therapy known as ACTUS [---] uses the adeno-associated virus (AAV) that specifically targets the liver to promote the production of acid"
YouTube Link 2020-02-13T07:28Z [----] followers, [----] engagements
"Givosiran to Treat Acute Hepatic Porphyria Recently we talked with Akshay Vaishnaw MD PhD is Chief Medical Officer at Alnylam Pharmaceuticals about their RNA interference (RNAi) drug givosiran that targets aminolevulinic acid synthase [--] (ALAS1) to treat acute hepatic porphyria. Acute hepatic porphyria is a group of rare genetic diseases that results in the accumulation of neurotoxic heme intermediates aminolevulinic acid (ALA) and porphobilinogen (PBG) in the liver. Common symptoms include severe diffuse abdominal pain weakness nausea and fatigue. Long-term complications of acute hepatic"
YouTube Link 2019-07-23T10:31Z [----] followers, [----] engagements
"Dr. Pushkal Garg Discusses Alnylam's Rare Disease Day Initiatives Pushkal Garg MD Chief Medical Officer at Alnylam provides an overview of two of his company's initatives which will be highlighted this month and on Rare Disease Day: Alnylam Act and Advocacy for Impact. The Alnylam Act Alnylam offers genetic testing at no charge for individuals who may carry a gene mutation known to be associated with hereditary ATTR (hATTR) amyloidosis. The Alnylam Act program was developed to reduce barriers to genetic testing and counseling to help people make more informed decisions about their health. The"
YouTube Link 2019-02-09T14:24Z [----] followers, [---] engagements
"Safety and Efficacy of PLN-74809 to Treat Idiopathic Pulmonary Fibrosis Eric LeFebvre MD Chief Medical Officer at Pliant Therapeutics discusses positive safety and efficacy data from the phase 2a INTEGRIS-IPF clinical trial of PLN-74809 in patients with idiopathic pulmonary fibrosis (IPF). IPF is a chronic progressive fibrosing lung disease with few treatment options and a poor prognosis. Common symptoms of IPF include shortness of breath and difficulty performing daily activities such as walking and talking. Currently there is no pharmacological cure for IPF with neither of the approved two"
YouTube Link 2022-07-19T10:44Z [----] followers, [----] engagements
"Friedreichs Ataxia Clinical Trial Likely to Begin Next Year R. Nolan Townsend Chief Executive Officer of Lexeo Therapeutics discusses the Rare Pediatric Disease designation and Orphan Drug designation granted to LX2006 for the treatment of cardiomyopathy associated with Friedreichs ataxia. Friedreichs ataxia is a degenerative neuromuscular disorder caused by mutations in the FXN gene which reduces the production of frataxin a protein important for proper mitochondrial functions. The onset of symptoms varies greatly among patients but generally occurs between the ages of [--] to [--] years. Some of"
YouTube Link 2021-08-20T04:55Z [----] followers, [---] engagements
"Acromegaly Research Highlights: ENDO [----] This 30-minute CME program highlights the latest clinical research about acromegaly a rare endocrine disorder. Activity Faculty Wenyu Huang MD PhD Associate Professor Northwestern University Feinberg School of Medicine Chicago IL Support for this accredited continuing education activity has been made possible through educational grants from Recordati Rare Diseases Inc. and Ipsen Biopharmaceuticals Inc. To earn a CME credit go to https://checkrare.com/learning/p-acromegaly-research-highlights-endo-2023/ Estimated time to complete: [---] hours Start date:"
YouTube Link 2025-10-06T15:06Z [----] followers, [---] engagements
"Alnylam Overview Editor's Note: This interview was conducted at #Bio2018. Please pardon the background noise. Barry Greene President of Alnylam joined the company in [----] and has more than [--] years of experience in healthcare pharmaceutical and biotechnology industries. In this video Barry provides an overview of his company and the science of RNA interference (RNAi) which represents a completely new approach to drug discovery and development. The [----] Nobel Prize for Physiology or Medicine awarded to Craig Mello and Andrew Fire recognized the importance of RNAi as a major scientific"
YouTube Link 2018-08-08T11:31Z [----] followers, [---] engagements
"Open-Label Extension Data of Del-Zota for Patients With Duchenne Muscular Dystrophy Mike Flanagan PhD Chief Scientific Officer at Avidity Biosciences discusses new data from the EXPLORE44 open-label extension of del-zota for treatment of patients with Duchenne muscular dystrophy (DMD) amenable to exon [--] skipping. DMD affects the muscles leading to progressive muscle wasting. DMD occurs primarily in males though in rare cases may affect females. The symptoms of DMD include progressive weakness and atrophy of both skeletal and heart muscle. Early signs may include delayed ability to sit stand"
YouTube Link 2025-10-02T19:26Z [----] followers, [---] engagements
"Efficacy and Safety of Pabinafusp-Alfa in MPS-II (Hunter Syndrome) Mathias Schmidt PhD President and CEO of JCR Pharmaceuticals USA discusses long-term efficacy and safety data of pabinafusp-alfa in mucopolysaccharidosis type II (MPS II; Hunter syndrome). Data from this study was recently presented at WORLDSymposium [----]. MPS II is a rare progressive lysosomal disease caused by deficient activity of iduronate-2-sulfatase attributable to pathogenic variants of the iduronate-2-sulfatase gene (IDS). This disease has a variable clinical presentation but common signs and symptoms include:"
YouTube Link 2022-03-23T12:28Z [----] followers, [---] engagements
"SOBI Overview at ASH: Data from Phase 2/3 Clinical Study of Emapalumab-lzsg in Primary HLH Rami Levin President of North America for Swedish Orphan Biovitrum (SOBI) discusses his company's recent FDA approval Sobis commitment to the rare disease community and how Sobi is growing its presence in North America. We sat down with Rami Levin at this year's American Society of Hematology (ASH) conference where SOBI and Novimmune SA presented data from the pivotal phase 2/3 clinical study of emapalumab-lzsg in primary haemophagocytic lymphohistiocytosis (HLH). Primary HLH is an aggressive"
YouTube Link 2018-12-23T12:15Z [----] followers, [---] engagements
"What Is ENPP1 Deficiency Axel Bolte MSc MBA Co-Founder President and Chief Executive Officer Inozyme Pharmaceuticals gives an overview of ENPP1 deficiency. The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase [--] (ENPP1) which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating normal bone mineralization. Individuals who present in utero or in infancy are typically diagnosed with generalized arterial calcification of infancy (GACI) which is characterized by"
YouTube Link 2022-04-25T18:25Z [----] followers, [---] engagements
"Glyn Edwards of Summit Therapeutics Discusses Partnerships Glyn Edwards of Summit Therapeutics discusses his company's partnerships with the Duchenne muscular dystrophy (DMD) community and with Sarepta Therapeutics. DMD is one of the most common fatal genetic disorders diagnosed in children around the world. DMD is an X-linked disease meaning that it predominantly affects males and it results in the progressive wasting of muscles throughout the body. The disease has an estimated incidence of [--] in [----] and a patient population in the developed world of approximately [-----]. Approximately two"
YouTube Link 2018-04-09T23:39Z [----] followers, [--] engagements
"Gene Therapy Platform Designed to Target the Heart in Fabry Disease Raphael Schiffmann MD of 4D Molecular Therapeutics. Schiffmann discusses the mechanism of action of 4D-310 a gene therapy in development that targets the heart in Fabry disease. Fabry disease is a rare genetic disorder that results in the buildup of globotriaosylceramide. Characteristic symptoms of Fabry disease include acroparesthesias angiokeratomas hypohidrosis corneal opacity gastrointestinal problems tinnitus and hearing loss. Fabry disease also involves potentially life-threatening complications involving the heart and"
YouTube Link 2023-03-08T15:59Z [----] followers, [--] engagements
"Positive Data from Regenxbios Gene Therapy Trials for MPS I and MPS II Steve Pakola MD Chief Medical Officer for Regenxbio discusses data from the ongoing gene therapy trials in children with mucopolysaccharidosis type I (MPS I) and mucopolysaccharidosis type II (MPS II). The data was presented at WORLDSymposium [----]. MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme alpha-L-iduronidase which is responsible for breaking down glycosaminoglycans (GAGs). These GAGs accumulate in the tissues of MPS I patients resulting in a diverse clinical profile. In moderate"
YouTube Link 2025-10-06T16:17Z [----] followers, [--] engagements
"Alnylam Overview and it's Focus on RNA Interference Pushkal Garg MD Chief Medical Officer at Alnylam provides an overview of his company and its focus on RNA interference (RNAi). This new class of innovative medicines has the potential to transform the lives of patients who have limited or inadequate treatment options. RNAi is based on Nobel Prize-winning science and has the potential for treatments of a wide range of debilitating diseases with unmet medical need"
YouTube Link 2019-02-27T21:32Z [----] followers, [---] engagements
"Mechanism of Action of Momelotinib to Treat Myelofibrosis Srdan Verstovsek MD PhD Medical Oncologist and Professor in the Department of Leukemia at the University of Texas MD Anderson Cancer Center discusses the mechanism of action of momelotinib a JAK-inhibitor being investigated as a treatment for myelofibrosis. Myelofibrosis is a rare cancer characterized by extensive scarring of the bone marrow and the disruption of normal blood cells production. This leads to severe anemia that can cause weakness and fatigue. Bone marrow scarring can also lead to low platelet levels which increases the"
YouTube Link 2022-02-22T11:41Z [----] followers, [---] engagements
"Artificial Intelligence and Diagnosing Rare Cancers Milan Radovich Ph.D. Chief Scientific Officer at Caris Life Sciences discussed the use of artificial intelligence (AI) to improve the diagnosis of different cancer patients. As noted by Dr. Radovich each patient with their imaging data electronic health records exome sequencing data etc can lead to a level of data that is too large for a person to comprehend (e.g. a petabyte of data). Fortunately we are entering a phase where powerful computing technology power sequencing technology and the implementation of AI algorithms are emerging to"
YouTube Link 2023-06-11T00:12Z [----] followers, [--] engagements
"Current Issues in Gene Therapies for Lysosomal Disorders Shunji Tomatsu MD PhD Professor and Head Nemours Childrens Health Delaware USA; Alessandra dAzzo PhD Emerita Faculty Genetics St. Jude Childrens Research Hospital Tennessee USA; Merve Emecen Sanli MD Associate Professor Department of Pediatrics University of Texas Southwestern Medical Center Texas USA; and Ryan Colburn patient with Pompe disease and president of Odimm Inc discuss new and emerging gene therapies for lysosomal disorders. This continuing education activity is provided through collaboration between the Lysosomal and Rare"
YouTube Link 2025-12-31T18:50Z [----] followers, [---] engagements
"Dr. John Maraganore CEO of Alnylam Pharma Discusses Henri Termeer Dr. John Maraganore has served as the CEO and a Director of Alnylam since [----]. In this clip he discusses Henri A. Termeer. Mr Termeer was a former Chairman President and CEO of Genzyme Corporation for nearly three decades prior to its acquisition by the French drug maker Sanofi. Henri unexpectedly passed away on May [--] [----] at the age of [--]. He was known for his service to the rare disease community and his unsurpassed entrepreneurial leadership that spurred the rise of an industry dedicated to innovative treatments for orphan"
YouTube Link 2018-03-01T19:17Z [----] followers, [---] engagements
"ZYN002: Being Evaluated for Fragile X Syndrome Armando Anido Chief Executive Officer at Zynerba Pharmaceuticals discusses his company's lead product candidate ZYN002 a CBD gel currently being evaluated for Fragile X syndrome. ZTN002 is a pharmaceutically-produced CBD a non-euphoric cannabinoid formulated as a patent-protected permeation-enhanced gel for transdermal delivery through the skin and into the circulatory system. ZYN002 is being developed for patients suffering from Fragile X syndrome ASD in pediatric patients 22q and a heterogeneous group of rare and ultra-rare epilepsies known as"
YouTube Link 2019-02-27T21:32Z [----] followers, [---] engagements
"OLD: The Promise of Gene Therapy and the Challenges of Payment Structures Jeff Ajer Executive Vice President and Chief Commercial Officer of BioMarin discusses gene therapy. The development of these transformative therapies has triggered discussions about market access challenges the viability of alternative financing mechanisms and the results for patient access. In this video Mr. Ajer suggests that BioMarin will offer alternative funding mechanisms and payment structures. While gene therapies hold the promise of substantial benefits some patients may face barriers accessing them. CheckRare"
YouTube Link 2019-04-13T19:16Z [----] followers, [--] engagements
"Update on Patisiran to Treat Hereditary ATTR At the BIO International Convention held in Philadelphia PA we talked with Akshay Vaishnaw MD PhD Chief Medical Officer at Alnylam Pharmaceuticals about the companys approved RNA interference (RNAi) drug Patisiran to treat to hereditary transthyretin-mediated amyloidosis (ATTR). Dr. Vaishnaw said Hereditary ATTR is caused by a mutated gene that gives rise to a mutant TTR messenger RNA in the liver cell that gives rise to mutant transthyretin protein that comes out of the liver cell circulates in the blood and deposits in the heart and the nerves."
YouTube Link 2019-07-08T13:51Z [----] followers, [---] engagements
"Efficacy of Nefecon to Treat IgA Nephropathy Richard Lafayette MD FACP Director of the Stanford Glomerular Disease Center and Rheumatologist at Stanford Health Care describes the latest clinical trial assessing Nefecon (budesonide delayed-release capsules) to treat immunoglobulin A (IgA) nephropathy. IgA nephropathy (Bergers disease) is a rare kidney disease characterized by the accumulation of IgA deposits in the kidneys. The buildup of IgA deposits inflames and damages the glomeruli causing hematuria and proteinuria. This damage may lead to scarring of the nephrons which progresses slowly"
YouTube Link 2023-07-19T01:44Z [----] followers, [----] engagements
"Autism Spectrum Disorder Armando Anido Chief Executive Officer at Zynerba Pharmaceuticals discusses Autism Spectrum Disorder (ASD) a developmental disorder that affects communication and behavior. Zynerba is pursuing new therapeutic options for ASD and other neuropsychiatric conditions. Autism Spectrum Disorder refers to a range of conditions characterized by anxiety repetitive patterns of behavior impairments in social communication including verbal and non-verbal communication and deficits in developing and maintaining relationships. Although autism can be diagnosed at any age it is said to"
YouTube Link 2019-02-27T21:31Z [----] followers, [---] engagements
"ENPP1 and ABCC6 Deficiency Overviews Doug Treco PhD CEO of Inozyme Pharma provides an overview of ENPP1 Deficiency and ABCC6 Deficiency. ENPP1 Deficiency is a rare metabolic disease caused by mutations in the ENPP1 enzyme. This enzyme is responsible for the cleavage of ectonucleotides that prevent mineralization. In ENPP1 Deficiency calcium phosphate precipitates throughout the body accumulating in the wrong places such as blood vessels skin eyes joints and tendons. As Dr. Treco explains this is due to low levels of pyrophosphate and ATP production. Pyrophosphate is also essential in the"
YouTube Link 2024-05-08T17:36Z [----] followers, [---] engagements
"Unmet Needs of Patients With Cushings Syndrome Alessandro Albuquerque MD PhD Chief Medical Officer of Recordati Rare Diseases North America discusses unmet needs of patients with Cushings syndrome. Cushing's syndrome is a rare endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol. Signs and symptoms of Cushing's syndrome include upper body obesity fatigue muscle weakness high blood pressure backache high blood sugar easy bruising and bluish-red stretch marks on the skin. Affected women may also experience irregular menstrual periods and increased"
YouTube Link 2025-08-25T18:14Z [----] followers, [---] engagements
"Treating Neonatal Onset Multisystem Inflammatory Disease (NOMID) Len Walt Vice President Head of Medical Affairs Sobi in North America discusses Kineret (anakinra) a treatment for neonatal onset multisystem inflammatory disease (NOMID). Kineret (anakinra) is a recombinant protein drug that blocks the biological activity of IL-1a and IL -1b by binding to interleukin-1 type [--] receptor (IL-R 1) expressed in a variety of tissues and organs and thereby blocking the interleukin-1 (IL-1) signalling. IL-1 is a key mediator of inflammation and a significant contributor to autoinflammatory diseases."
YouTube Link 2017-10-23T21:28Z [----] followers, [---] engagements
"Fulcrum Therapeutics Diego Cadavid MD of Fulcrum Therapeutics explains the philosophy of the company and how they are developing therapies to stop certain mutated genes from overproducing certain proteins. One such therapy is losmapimod a mitogen-activated protein kinase (MAPK) inhibitor that is in clinical development to treat people with facioscapulohumeral muscular dystrophy. Facioscapulohumeral muscular dystrophy is a rare disabling disease due to mutations in the DUX4 gene. The disease generally begins with weakness in facial muscles but as the condition progresses shoulders arms and"
YouTube Link 2020-03-27T11:32Z [----] followers, [---] engagements
"Alnylam and the PH1 Community Waiting for the FDA to Approve Lumasiran Pritesh J. Gandhi PharmD of Alnylam Pharmaceuticals explains the companys hope that lumasiran obtains FDA approval to treat primary hyperoxalaluria type [--] (PH1). A PDUFA data is set for December [--] [----]. PH1 is a rare genetic disease in which excessive oxalate production leads to painful and recurrent kidney stones. These recurrent stones increase the chance of hematuria urinary tract infections and end stage renal disease (ESRD). Lumasiran is an RNAi drug that targets hydroxyacid oxidase [--] (HAO1) the gene that encodes"
YouTube Link 2020-11-23T20:17Z [----] followers, [--] engagements
"PellePharm CEO Dr. Sanuj Ravindran Sanuj K. Ravindran MD is president and CEO of PellePharm. Dr. Ravindran also serves on the PellePharm Board of Directors and is CEO-in-Residence with BridgeBio PellePharms parent company. Dr. Ravindran has more than [--] years of strategic and operational biopharma experience. Previously he was chief business officer at aTyr Pharma (LIFE) a clinical stage rare disease-focused biotechnology company where he led corporate strategy financial strategy business development and investor relations. Prior to that Dr. Ravindran was senior vice president of corporate"
YouTube Link 2018-01-16T20:58Z [----] followers, [---] engagements
"Applied Therapeutics: An Overview Shoshana Shendelman Ph.D. President and Chief Executive Officer of Applied Therapeutics provides a brief overview of the orphan drug company. As Dr. Shendelman explains Applied Therapeutics is a biopharmaceutical company developing a pipeline of novel drug candidates against validated molecular targets in indications of high unmet medical need. The Companys lead drug candidate govorestat is an aldose reductase inhibitor (ARI) being developed to treat various rare metabolic disorders including galactosemia SORD deficiency and PMM2-CDG. The Company is also"
YouTube Link 2023-05-19T17:39Z [----] followers, [---] engagements
"Onpattro (Patisiran) for Treatment of Polyneuropathy Caused by Hereditary ATTR Amyloidosis Pushkal Garg MD Chief Medical Officer at Alnylam discusses his company's approved RNAi therapy Onpattro (patisiran) for the treatment of polyneuropathy caused by hereditary ATTR (hATTR) amyloidosis a rare condition that affects an estimated [-----] people worldwide. Symptoms can affect multiple parts of the body including the nervous (nerve) cardiac (heart) and gastrointestinal (digestive) systems. Amyloidosis refers to a group of conditions caused by the build-up of amyloid fibrils in the body. Each type"
YouTube Link 2019-02-08T15:37Z [----] followers, [----] engagements
"Myasthenia Gravis Clinical Research Highlights: AAN [----] This program is supported by an educational grant from UCB Inc. This accredited CME program highlights the latest clinical research about myasthenia gravis a rare autoimmune disease that targets the neuromuscular junction. This program led by Dr. James Howard Jr provides a summary of clinically relevant data presented at the American Academy of Neurology Annual Meeting (AAN 2025) held in San Diego CA that can enhance the care of patients with myasthenia gravis. To obtain CME credit for this program visit"
YouTube Link 2025-10-07T17:39Z [----] followers, [---] engagements
"OLD: Jeff Ajer of BioMarin Discusses Gene Therapy Pricing Jeff Ajer Executive Vice President and Chief Commercial Officer of BioMarin discusses pricing concepts for gene therapy treatments. Mr. Ajer says that alternative funding mechanisms and payment structures will be needed for gene therapy. While gene therapies hold the promise of substantial benefits some patients may face barriers accessing them. CheckRare CheckOrphan Jeff Ajer BioMarin gene therapy CheckRare CheckOrphan Jeff Ajer BioMarin gene therapy"
YouTube Link 2019-04-13T20:27Z [----] followers, [---] engagements
"Chris Garabedian Discusses His Time at Sarepta Chris Garabedian discusses his time at Sarepta and some of the challenges that the rare disease communities will have to deal with in the coming years. CheckRare CheckOrphan Chris Garabedian Xontogeny Sarepta CheckRare CheckOrphan Chris Garabedian Xontogeny Sarepta"
YouTube Link 2018-02-26T21:33Z [----] followers, [---] engagements
"Alnylam's Clinical Focus Editor's Note: This interview was conducted at #Bio2018. Please pardon the background noise. Barry Greene President of Alnylam provides an overview of his company and the science of RNA interference (RNAi). Alnylam is developing RNAi (RNA interference) into a new class of medicines to potentially address the needs of patients who have limited or inadequate treatment options. Alnylam's pipeline of investigational RNAi therapeutics is focused on diseases with unmet medical need that fall under [--] Strategic Therapeutic Areas (STArs): genetic medicines cardio-metabolic"
YouTube Link 2018-07-26T14:08Z [----] followers, [---] engagements
"CEO of Cyclo Therapeutics Discusses Niemann-Pick Disease Type C1 Clinical Trial Scott Fine CEO of Cyclo Therapeutics discusses the phase [--] trial evaluating hydroxypropyl betacyclodextrin (Trappsol Cyclo) for the treatment of Niemann-Pick disease type C1 (NPC1). NPC is a disabling neurogenetic disorder that has been diagnosed prenatally neonatally during childhood and even into adulthood. This rare disorder is marked by progressive motor dysfunction and a highly variable symptom profile and onset of symptoms. It can result in the patients death soon after birth or manifest as a chronic"
YouTube Link 2021-10-14T10:34Z [----] followers, [---] engagements
"Dr. John Maraganore of Alnylam Highlights the Importance of Diversity Dr. John Maraganore CEO of Alnylam highlights the importance of diversity within his company and the biotech sector. Dr. John Maraganore has led a career pursuing therapies to address unmet medical needs. At Alnylam Pharmaceuticals Maraganore is helping lead the development of RNAi therapeutics which aim to address genetic medicines cardio-metabolic diseases and hepatic infectious diseases. CheckRare CheckOrphan Dr. John Maraganore Alnylam Pharma diversity CheckRare CheckOrphan Dr. John Maraganore Alnylam Pharma diversity"
YouTube Link 2018-04-27T12:43Z [----] followers, [---] engagements
"Multi-Omic Databases and Rare Cancers Milan Radovich PhD Chief Scientific Officer at Caris Life Sciences summarizes the companys comprehensive clinico-genomic database being used to advance targeted therapy for various cancer types. As noted by Dr. Radovich Caris performed whole genome sequencing of cancer patients to look at all [-----] genes in the genome and examine them in relation to cancer types and severity. At ASCO [----] numerous abstracts were presented that represent [--] studies involving over [--] cancer types. The findings of these studies show how comprehensive molecular profiling to"
YouTube Link 2023-06-09T01:55Z [----] followers, [---] engagements
"CAMP4 Therapeutics Programs For Urea Cycle Disorders and SYNGAP1 Yuri Maricich MD Chief Medical Officer of CAMP4 Therapeutics discusses the companys current drug development programs. CAMP4 is a biopharmaceutical company focused on utilizing RNA to develop novel treatments that increase gene expression in patients with rare genetic conditions. CAMP4 is currently working on CMP-CPS-001 a novel investigational therapy designed to address the underlying cause of urea cycle disorders (UCDs) by regulating genes associated with the condition. The first clinical trial of this program was initiated"
YouTube Link 2025-05-13T19:57Z [----] followers, [---] engagements
"What is ENPP1 Deficiency Catherine Nester BSN VP of Physician and Patient Strategies at Inozyme Pharma discuss the prevalence of Ectonucleotide pyrophosphatase/phosphodiesterase [--] (ENPP1) Deficiency. ENPP1 deficiency is a rare metabolic disorder. ENPP1 is an enzyme involved in the cleavage of ectonucleotides. When a person is deficient in this enzyme it can lead to a plethora of metabolic concerns. Babies who present in utero or in infancy are typically diagnosed with generalized arterial calcification of infancy and about half of infants with ENPP1 Deficiency die within six months of birth."
YouTube Link 2023-02-22T16:03Z [----] followers, [---] engagements
"Safety and Efficacy of PLN-74809 to Treat Idiopathic Pulmonary Fibrosis Eric LeFebvre MD Chief Medical Officer at Pliant Therapeutics discusses positive safety and efficacy data from the phase 2a INTEGRIS-IPF clinical trial of PLN-74809 in patients with idiopathic pulmonary fibrosis (IPF). IPF is a chronic progressive fibrosing lung disease with few treatment options and a poor prognosis. Common symptoms of IPF include shortness of breath and difficulty performing daily activities such as walking and talking. Currently there is no pharmacological cure for IPF with neither of the approved two"
YouTube Link 2025-10-07T16:40Z [----] followers, [--] engagements
"Safety and Efficacy of Sparsentan to Treat Focal Segmental Glomerulosclerosis (FSGS) Howard Trachtman MD from NYU Langone Health provides an overview of the safety and efficacy of sparsentan to treat focal segmental glomerulosclerosis (FSGS). FSGS is a heterogeneous kidney disorder that often presents with a variable degree of proteinuria and nephrotic syndrome. Current treatment options can include corticosteroids or other immunomodulating agents aimed to reduce proteinuria but new treatments such as sparsentan are in development. Sparsentan is a dual endothelin receptor and angiotensin"
YouTube Link 2021-05-03T14:06Z [----] followers, [----] engagements
"John Maraganore Speaks Out on His Role as Bio Chair Dr. John Maraganore has served as the CEO and a Director of Alnylam since [----] and is the Chair of the Biotechnology Innovation Organization (BIO) for the 2017-2018 term. Dr. John Maraganore has led a career pursuing therapies to address unmet medical needs. At Alnylam Pharmaceuticals Maraganore is helping lead the development of RNAi therapeutics which aim to address genetic medicines cardio-metabolic diseases and hepatic infectious diseases. CheckRare CheckOrphan Dr. John Maraganore Alnylam Pharma BIO CheckRare CheckOrphan Dr. John"
YouTube Link 2018-03-09T20:55Z [----] followers, [---] engagements
"Alnylam's Pending Approval of Patisiran Editor's Note: This interview was conducted at #Bio2018. Please pardon the background noise. Barry Greene President of Alnylam discusses his company and it's pending approval of Patisiran an investigational RNAi therapeutic targeting transthyretin (TTR) in development for the treatment of hereditary ATTR amyloidosis (hATTR amyloidosis). CheckRare CheckOrphan Alnylam Barry Greene Inclisiran Givosiran Patisiran CheckRare CheckOrphan Alnylam Barry Greene Inclisiran Givosiran Patisiran"
YouTube Link 2018-07-01T20:53Z [----] followers, [----] engagements
"Mechanism of Action of Milademetan (RAIN-32) to Treat Liposarcoma Avanish Vellanki Cofounder and CEO at Rain Therapeutics describes the mechanism of action of milademetan (RAIN-32) an investigational MDM2 inhibitor which is currently being studied as a treatment for dedifferentiated liposarcoma in a phase [--] clinical trial. Liposarcoma is a rare cancer originating from fat cells located in the soft tissues of the body. It is a malignant cancer that can spread to other parts of the body. Well-differentiated liposarcoma is less aggressive and tends to present as a large painless mass found in"
YouTube Link 2021-08-31T14:22Z [----] followers, [---] engagements
"Clinical Trials for ENPP1 and ABCC6 Deficiency Doug Treco PhD CEO of Inozyme Pharma discusses ongoing clinical trials for INZ-701 an enzyme replacement therapy for the potential treatment of ENPP1 and ABCC6 Deficiencies. ENPP1 Deficiency and ABCC6 Deficiency are rare metabolic diseases caused by mutations in the ENPP1 enzyme and ABCC6 gene respectively. Both disorders are characterized by decreased levels of pyrophosphate and ATP production leading to calcification in blood vessels skin joints tendons among other places. Patients with these deficiencies may experience pain and inflammation"
YouTube Link 2024-05-22T20:29Z [----] followers, [---] engagements
"Delpacibart Braxlosiran in Patients With Facioscapulohumeral Muscular Dystrophy Mike Flanagan PhD Chief Scientific Officer at Avidity Biosciences discusses topline results from study testing delpacibart braxlosiran (del-brax) in patients with facioscapulohumeral muscular dystrophy and the newly initiated phase [--] trial. FSHD is a rare disorder characterized by muscle weakness and atrophy. This condition gets its name from the areas of the body that are affected most often: muscles in the face around the shoulder blades and in the upper arms. The signs and symptoms of FSHD usually appear in"
YouTube Link 2025-07-01T21:23Z [----] followers, [---] engagements
"ENPP1 and ABCC6 Deficiency Data Presented at ASBMR [----] Kurt Gunter MD Senior Vice President and Chief Medical Officer at Inozyme Pharma discusses data presented on ENPP1 deficiency and ABCC6 deficiency at the [----] American Society for Bone and Mineral Research meeting. INZ-701 is a subcutaneous investigational ENPP1 enzyme replacement therapy (ERT). It is currently in development for the treatment of ENPP1 deficiency ABCC6 deficiency and calciphylaxis. The therapy has so far shown a rapid significant and sustained increase in pyrophosphate levels. The efficacy and safety profile has been"
YouTube Link 2024-09-30T20:14Z [----] followers, [---] engagements
"RNA-based Therapy Shows Promise for Dravet Syndrome in Preclinical Studies Ann Barbier MD PhD Chief Medical Officer at CAMP4 Therapeutics discusses positive animal model data from CAMP4s investigational RNA-based therapy for Dravet syndrome CMP-SCN. Dravet syndrome is a rare neurological condition that usually appears during the first year of life as frequent febrile seizures. As the condition progresses other types of seizures typically occur including myoclonus and status epilepticus. Moderate to severe cognitive impairment is also common. Most cases of Dravet syndrome occur due to a"
YouTube Link 2022-06-21T10:51Z [----] followers, [---] engagements
"Kidney Involvement in Lysosomal Disorders Ozlem Goker-Alpan MD Founder and President LDRTC and David G. Warnock MD. Professor of Medicine (Emeritus) at University of Alabama at Birmingham discuss best practices to identify and treat kidney problems associated with lysosomal disorders. This CME/CE activity describes the pathophysiologies and management options for lysosomal disease patients with kidney problems. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC) CheckRare CE and AffinityCE. This"
YouTube Link 2025-10-07T17:22Z [----] followers, [--] engagements
"Disease Severity and Progression in Patients With ENPP1 Deficiency Matt Winton PhD Senior Vice President and Chief Operating Officer of Inozyme Pharma discusses results from an analysis characterizing disease severity and progression in patients with ENPP1 deficiency. ENPP1 deficiency is a rare metabolic disease caused by mutations in the ENPP1 enzyme responsible for the cleavage of ectonucleotides that prevent mineralization. In ENPP1 deficiency calcium phosphate precipitates throughout the body accumulating in the wrong places such as blood vessels skin eyes joints and tendons. This is due"
YouTube Link 2025-05-29T14:33Z [----] followers, [---] engagements
"New Four Year Data Shows Satralizumab Sustains Efficacy and Safety in Treating NMOSD Ashish Pradhan MD Executive Director and Disease Area Lead for MS and NMOSD at Genentech discusses the 4-year data examining the efficacy and safety of satralizumab to treat neuromyelitis optica spectrum disorder (NMOSD). This data was recently presented at the ECTRIMS [----] Annual Meeting. NMOSD is a rare central nervous disorder that primarily affects the spinal cord and optic nerves. Symptoms of NMOSD may include blindness in one or both eyes weakness or paralysis of arms or legs spasming loss of sensation"
YouTube Link 2021-12-03T11:36Z [----] followers, [---] engagements
"Gene Control vs Gene Therapy David Roth MD of Syros Pharmaceuticals describes his companys gene control methodology to target genetic conditions in a unique way. Instead of the more traditional gene therapies that are the focus of many studies Syros investigates and identifies disease-causing alterations in gene expression to create medicines that control the expression of genes. The company currently has medicines in clinical trials to treat acute myeloid lymphoma (AML) as well as numerous medicines in pre-clinical develop to treat sickle cell disease myeloproliferative neoplasms and other"
YouTube Link 2019-12-12T10:40Z [----] followers, [---] engagements
"Jeff Ajer of BioMarin Discusses Gene Therapy Pricing Jeff Ajer Executive Vice President and Chief Commercial Officer of BioMarin discusses pricing concepts for gene therapy treatments. Mr. Ajer says that alternative funding mechanisms and payment structures will be needed for gene therapy. While gene therapies hold the promise of substantial benefits some patients may face barriers accessing them. CheckRare CheckOrphan CheckOrphan Jeff Ajer BioMarin gene therapy rare disease hemophilia CheckRare CheckOrphan CheckOrphan Jeff Ajer BioMarin gene therapy rare disease hemophilia"
YouTube Link 2019-04-15T16:57Z [----] followers, [---] engagements
"CEO of Inozyme Shares Preliminary Data From ENPP1 Deficiency Clinical Trial Axel Bolte MSc MBA Co-Founder President and Chief Executive Officer Inozyme Pharmaceuticals discusses the positive preliminary data from the first [--] patients treated in the phase [--] portion of the phase 1/2 clinical trial of INZ-701 in ENPP1 deficiency patients. The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase [--] (ENPP1) which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating"
YouTube Link 2022-05-06T10:11Z [----] followers, [---] engagements
"Mechanism of Action of Pabinafusp-Alfa in MPS-II Mathias Schmidt PhD President and CEO of JCR Pharmaceuticals USA discusses the mechanism of action of pabinafusp-alfa an investigational therapy for mucopolysaccharidosis type II (MPS II; Hunter syndrome). MPS II is a rare progressive lysosomal disease caused by deficient activity of iduronate-2-sulfatase attributable to pathogenic variants of the iduronate-2-sulfatase gene (IDS). This disease has a variable clinical presentation but common signs and symptoms include: developmental decline between [--] and [--] months followed by progressive loss"
YouTube Link 2022-04-08T10:09Z [----] followers, [---] engagements
"Recordati Rare Diseases Mohamed Ladha President and General Manager of Recordati Rare Diseases discusses the companys involvement in the rare disease community. Recordati Rare Diseases operates under the goal of maximizing the quality of life for rare disease patients through investments in research and education. From financial support for patients currently on their products to education opportunities for allied healthcare workers the company offers a variety of services. Therapeutic areas of focus for the company include Cushings and acromegaly in the endocrinology space idiopathic"
YouTube Link 2024-07-12T14:43Z [----] followers, [---] engagements
"Milademetan Shows Promise as Treatment for Multiple Cancer Types Avanish Vellanki Cofounder and CEO at Rain Therapeutics discusses the role of p53 and MDM2 in cancers like liposarcoma the mechanism of action of milademetan and the positive pre-clinical data presented at the [----] World Conference of Lung Cancer. As Mr. Vellanki explains p53 regulates the cell cycle and is essential for tumor suppression. MDM2 is a crucial regulator of p53. If MDM2 is overexpressed p53 can be inactivated leading to tumor growth and cancer progression. Milademetan Rain Therapeutics lead product candidate"
YouTube Link 2021-09-30T10:24Z [----] followers, [---] engagements
"Hemophilia Research Highlights: ISTH [----] The accredited CME program highlights the latest clinical research about hemophilia a rare genetic bleeding disorder. Led by Dr. Steven Pipe MD this activity provides a summary of clinically relevant data presented at the International Society of Thrombosis and Haemostatis Congress (ISTH 2025) that can enhance the care of patients with hemophilia. This program is supported by an educational grant from Sanofi. To receive CME credit visit https://checkrare.com/learning/p-isth2025-module1-hemophilia-clinical-research-highlights/ Target Audience This"
YouTube Link 2025-10-07T17:39Z [----] followers, [---] engagements
"3-Year Data from FIREFISH Demonstrates Long-Term Safety and Efficacy of Risdiplam in SMA Type [--] Dalia Moawad MD Executive Director Head of Neurological Rare Diseases Medical Affairs at Genentech discusses 3-year data from the FIREFISH study of risdiplam (Evrysdi) in infants with spinal muscular atrophy (SMA) type [--]. SMA is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The absence of the SMN protein leads to cellular imbalances in motor neurons that in turn causes the motor neuron endplates to"
YouTube Link 2022-05-11T09:50Z [----] followers, [---] engagements
"Five-Year Follow-Up Results of OPTIC Clinical Trial for CML Jorge Cortes MD Director of the Georgia Cancer Center discusses five year follow-up results of the OPTIC clinical trial for chronic myeloid leukemia (CML). CML is a myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age but it mostly affects middle aged and older individuals. Patients usually present with fatigue weight loss anemia night sweats and splenomegaly. Allogeneic stem cell transplantation and tyrosine kinase inhibitors are"
YouTube Link 2025-01-21T16:34Z [----] followers, [---] engagements
"Cutaneous T-Cell Lymphoma: Overview and Diagnosis Neha Mehta-Shah MD Medical Oncologist at Washington University St. Louis provides an overview of cutaneous T-cell lymphoma (CTCL) and its diagnosis. CTCL is a rare group of malignancies that attack the bodys immune lymphatic system affecting both B-cells and T-cells. Whereas the B-lymphocytes act to neutralize the pathogens the main job of the T-lymphocytes is to attach to these foreign cells viruses or cancerous growths and directly destroy them. The underlying cause of CTCL is not currently fully understood. Genetic causes are suspected but"
YouTube Link 2025-06-25T14:32Z [----] followers, [---] engagements
"Data from Phase [--] Gene Therapy Trial in Hemophilia B Patients Very Encouraging Steven Pipe MD Professor of Pediatrics and Pathology and Pediatric Medical Director of the Hemophilia and Coagulation Disorders Program at the University of Michigan discusses the recent announcement of positive long-term results from the phase [--] HOPE-B clinical trial evaluating etranacogene dezaparvovec (EtranaDez) an investigational gene therapy for hemophilia B. Hemophilia B is a congenital bleeding disorder due to dysfunction or deficiency of coagulation Factor IX (FIX). People with this condition may bleed for"
YouTube Link 2025-10-06T16:17Z [----] followers, [--] engagements
"Hemophagocytic Lymphohistiocytosis: Disease Overview and Emerging Treatment Options Len Walt Vice President Head of Medical Affairs SOBI in North America discusses Hemophagocytic lymphohistiocytosis (HLH) a rare condition in which the body makes too many activated immune cells (macrophages and lymphocytes). People with HLH usually develop symptoms within the first months or years of life. Symptoms may include fever enlarged liver or spleen cytopenia (decreased number of blood cells) and neurological abnormalities. HLH may be inherited in an autosomal recessive manner or it can have"
YouTube Link 2018-09-18T13:14Z [----] followers, [----] engagements
"Education Campaign for Thyroid Eye Disease Margarita Ochoa-Maya MD Medical Director of the Rare Disease Business Unit at Amgen discusses the TEDucation campaign for thyroid eye disease (TED). TED is a rare autoimmune disease that can dramatically impact a persons vision. The condition often occurs in people with hyperthyroidism or Graves disease (GD) but also can occur in association with hypothyroidism euthyroidism and Hashimotos thyroiditis. GD affects approximately 1% to 2% of the adult population with an estimated 40% of GD patients subsequently developing TED over the course of their"
YouTube Link 2025-08-25T18:02Z [----] followers, [--] engagements
"GMMG-HD7 Clinical Trial for Patients With Multiple Myeloma Elias Mai MD Heidelberg Myeloma Center discusses the GMMG-HD7 clinical trial for patients with multiple myeloma. Multiple myeloma is a bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions pathological fractures bone pain hypercalcemia and anemia. The GMMG-HD7 clinical trial is a randomized phase [--] study evaluating the effect of isatuximab in induction therapy with lenalidomide/bortezomib/dexamethasone (RVd) and lenalidomide maintenance in patients with"
YouTube Link 2025-01-21T16:00Z [----] followers, [---] engagements
"Hematologic Malignancies and Clinical Trial Participations: A Shared Decision-Making Approach This 30-minute CME-accredited program hosted by John Kuruvilla MD discusses best practices for talking to patients with hematologic malignancies about possibly participating in clinical trials. Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Merck. Estimated time to complete: [---] hours Start date: November [--] [----] End date: November [--] [----] Activity Faculty John Kuruvilla MD"
YouTube Link 2025-10-07T17:22Z [----] followers, [--] engagements
"Biopharmaceutical and Immunological Properties of PEGylated Proteins (Chapter 2) Joo Gonalves Faculty of Pharmacy University of Lisbon Lisbon Portugal Paolo Caliceti Department of Pharmaceutical and Pharmacological Sciences University of Padova Padova Italy What Is PEGylation and Why Is It Important We will begin by examining the clinical uses of therapeutic proteins and their applications in healthcare. Next we will discuss the inherent limitations of therapeutic proteins including challenges such as pharmacokinetic (PK) profiles protein aggregation during storage and potential immune"
YouTube Link 2025-07-29T20:29Z [----] followers, [--] engagements
"Prader-Willi Syndrome Overview Rudolf Baumgartner MD Chief Medical Officer and Head of Clinical Development at Saniona gives an overview of Prader-Willi syndrome (PWS)"
YouTube Link 2025-10-06T15:05Z [----] followers, [--] engagements
"Current and Emerging Treatments for Lysosomal Storage Diseases Please join Drs. Ozlem Goker-Alpan and Ari Zimran as they discuss the latest developments in the treatments for lysosomal storage diseases"
YouTube Link 2025-10-06T15:06Z [----] followers, [--] engagements
"Daily Symptom Burden of Hypoparathyroidism Patty Keating Executive Director of the HypoPARAthyroidism Association and patient discusses the daily symptom burden of hypoparathyroidism Hypoparathyroidism is a rare endocrine disorder in which the parathyroid glands do not produce sufficient parathyroid hormone (PTH). Common signs and symptoms include abdominal pain brittle nails cataracts dry hair and skin muscle cramps tetany pain in the face legs and feet seizures tingling sensation and weakened tooth enamel. It may be caused by injury to the parathyroid glands (e.g. during surgery). The first"
YouTube Link 2025-09-04T16:48Z [----] followers, [---] engagements
"We Bet On All the Ponies: How the MLD Foundation Supports Drug Development Dean Suhr of the MLD Foundation provides an overview of the philosophy of their foundation when it comes to supporting research for metachromatic leukodystrophy (MLD). MLD is a genetic lysosomal disorder due to a deficiency in the enzyme arylsulfatase A (ARSA). It is characterized by the accumulation of sulfatides in cells that leads to the progressive destruction of white matter throughout the nervous system. Affected individuals show progressive deterioration of cognitive ability motor and sensory functions."
YouTube Link 2023-04-28T16:26Z [----] followers, [---] engagements
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