@checkrare CheckRare

CheckRare posts on YouTube about in the, rare, university of, ceo the most. They currently have [-----] followers and [---] posts still getting attention that total [---] engagements in the last [--] hours.

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Social Influence

Social category influence countries 8.8% stocks 6.4% travel destinations 2.4% technology brands 1.6% finance 1.6% ncaa football 0.8%

Social topic influence in the 17.6%, rare 13.6%, university of 8.8%, ceo 8.8%, gene #284, health 4.8%, education 4.8%, food 4%, company 4%, what is 3.2%

Top accounts mentioned or mentioned by @academycmeorg

Top assets mentioned Passage Bio, Inc. (PASG) Avidity Biosciences, Inc. (RNA) Ionis Pharmaceuticals, Inc. Common Stock (IONS)

Top Social Posts

Top posts by engagements in the last [--] hours

"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

"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

"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

"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

"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

"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

"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

"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

"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 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

"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

"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

"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

"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

"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

"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

"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

"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

"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

"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

"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

"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

"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

"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

"Ibr+Ven Combination Therapy Versus Clb+Obi Combination Therapy in Chronic Lymphocytic Leukemia Paolo Ghia MD PhD Professor of Medical Oncology at the Universit Vita-Salute San Raffaele in Milan Italy discusses data comparing ibrutinib plus venetoclax combination therapy with chlorambucil + obinutuzumab combination therapy in patients with chronic lymphocytic leukemia (CLL). CLL is a rare cancer that affects the white blood cells specifically B cells. In patients with CLL the cancer mainly manifests in the bloodstream. Early signs and symptoms may include swollen lymph nodes fatigue weight"
YouTube Link 2025-12-15T18:14Z [----] followers, [--] engagements

"What Physicians Should Know About Compounded Drugs Julie Dohm Of Counsel at Covington & Burling based in Silver Spring Maryland discusses some of the important issues that physicians and patients should understand regarding drug compounding. Between [----] and [----] Julie served as the lead on compounding for the U.S. Food and Drug Administration (FDA). Although compounded drugs can serve an important medical need for patients (for example in addressing allergies and providing oral solutions for children who can't swallow a pill and need liquid formulations) they do not have the same safety"
YouTube Link 2021-09-23T12:29Z [----] followers, [---] engagements

"Overview of TALEN Gene Editing and Its Use in Treating Hematologic Cancers Philippe Duchateau PhD Chief Scientific Officer at Cellectis describes the companys TALEN gene editing technology and its application in hematologic cancers. TALEN is based on a class of proteins derived from transcription activator-like effectors (TALEs) which are highly specific DNA-binding proteins. TALEs can be engineered to bind to almost any DNA sequence and when combined with a nuclease can edit the DNA at specific locations. As Dr. Duchateau explains Cellectis most prominent use of TALEN is through engineered"
YouTube Link 2022-02-03T11:19Z [----] followers, [---] engagements

"Zopapogene Imadenovec in Treating Patients With Recurrent Respiratory Papillomatosis Clint Allen MD Senior Investigator and Scott Norberg DO Associate Research Physician at Center for Cancer Research at the National Cancer Institute discuss results from a study testing the safety and efficacy of zopapogene imadenovec to treat patients with recurrent respiratory papillomatosis (RRP). RRP is a rare viral disease where tumors grow in the respiratory tract. The tumors can cause a hoarse voice chronic cough and difficulty breathing. These tumors rarely become cancerous but can cause long-term"
YouTube Link 2025-10-02T15:26Z [----] followers, [---] engagements

"Overview of Juvenile Idiopathic Arthritis (JIA) Daniel Lovell MD MPH Associate Director of the Division of Rheumatology at Cincinnati Children's Hospital Medical Center gives an overview of juvenile idiopathic arthritis (JIA). As Dr. Lovell explains JIA is an umbrella term for a number of diseases in individuals under the age of [--] and characterized by chronic arthritis that persists for at least [--] weeks. There are currently seven recognized subsets of JIA. These include: systemic juvenile idiopathic arthritis oligoarticular juvenile idiopathic arthritis (also known as oligoarthritis)"
YouTube Link 2025-10-06T15:06Z [----] followers, [--] engagements

"Interim Data from the FORWARD-53 Trial for Duchenne Muscular Dystrophy Paul Bolno CEO and Anne-Marie Li-Kwai-Cheung Chief Development Officer of Wave Life Sciences discuss interim data from the ongoing FORWARD-53 clinical trial for Duchenne muscular dystrophy (DMD). 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 or walk and difficulties learning to speak."
YouTube Link 2024-09-30T20:03Z [----] followers, [---] engagements

"Fibromuscular Dysplasia (FMD): Diagnosing and Treating this Rare Disorder Ido Weinberg MD Medical Director VASCORE; Assistant Professor of Medicine Harvard Medical School Co-Medical Director Anticoagulation Management Services Massachusetts General Hospital discusses diagnostic challenges of treatment limitations 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"
YouTube Link 2019-05-28T11:00Z [----] followers, [----] engagements

"Long-Term Data With Dawnzera for the Treatment of Hereditary Angioedema Michael Manning MD Allergist and Immunologist discusses long-term data with Dawnzera (donidalorsen) for the treatment of patients with hereditary angioedema (HAE). HAE is a condition where people have recurrent episodes of severe swelling of the skin and mucous membranes. These attacks generally become more frequent after puberty and continue throughout life often affecting the skin gastrointestinal tract and upper airway. While skin swelling can cause pain dysfunction and disfigurement it is not considered dangerous."
YouTube Link 2025-12-15T15:23Z [----] followers, [--] engagements

"Chapter 1: Introduction to Gene Directed Therapies Drs. Beggs and Parsons discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at the MDA [----] conference in Dallas Texas in March [----] and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established in contents of"
YouTube Link 2025-12-22T20:08Z [----] followers, [---] engagements

"Treatment Options for Desmoid Tumors Including Nirogacestat in Children Fariba Navid MD Associate Professor of Clinical Pediatrics Keck School of Medicine of USC announces her involvement in a trial for nirogacestat as a treatment for Desmoid tumors in pediatric patients. Desmoid tumors are benign tumors that can grow anywhere on the body into surrounding healthy tissues including joints muscle and viscera. These rare tumors can cause significant pain internal bleeding and reduced mobility. The most common course of action for Desmoid tumors - particularly those in non-lethal areas - is to"
YouTube Link 2020-11-23T17:43Z [----] followers, [----] engagements

"Chapter 8: Gene Therapy Discussion and Q&A Alan Beggs PhD Director of the Manton Center for Orphan Disease Research Sir Edwin and Lady Manton Professor of Pediatrics Boston Children's Hospital Harvard Medical School Boston MA USA Julie A. Parsons MD Haberfield Endowed Chair in Pediatric Neuromuscular Disorders Professor of Clinical Pediatrics and Neurology University of Colorado School of Medicine Children's Hospital Colorado Aurora CO USA The ASPIRO Clinical Trial is on clinical hold since September [----]. In this part Doctors Beggs and Parsons will discuss key issues on gene therapy"
YouTube Link 2025-12-22T20:08Z [----] followers, [---] engagements

"Uplizna (inebilizumab): A First-In-Class Approach to Generalized Myasthenia Gravis Treatment Richard Nowak MD Director of the Myasthenia Gravis Clinic at Yale University discusses the recent U.S. Food and Drug Administration (FDA)approval of Uplizna (inebilizumab) for the treatment of generalized myasthenia gravis (gMG) in adults who are anti-acetylcholine receptor antibody positive (AChR-Ab+) or anti-muscle specific tyrosine kinase antibody positive (MuSK- Ab+). gMG is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include"
YouTube Link 2026-01-26T17:40Z [----] followers, [---] engagements

"How Genetic Testing Impacted Diagnosis Treatment and Management of Epilepsy Tara Adams a mother to two daughters with epilepsy describes how genetic testing impacted diagnosis treatment and management. Chapters: Introduction 00:00 Diagnostic Journey 00:20 Advice for Patients and Families 2:37 Importance of Genetic Testing 3:28 Benefits of Identifying Genetic Causes 4:41 Finding a Community 6:21 Take Home Message 7:25"
YouTube Link 2025-10-29T10:33Z [----] followers, [--] engagements

"FcRn and Myasthenia Gravis Jointly Provided by American Academy of CME Inc and CheckRare CE Inc. Support for this accredited continuing education activity has been made possible through an educational grant from argenx US Inc. and UCB. Estimated time to complete: [----] hours Start date: November [--] [----] End date: November [--] [----] This half-hour CME-accredited program hosted by Richard J. Nowak MD MS explains the role of neonatal fragment crystallizable receptor (FcRn) in myasthenia gravis (MG) and how treatments that target FcRn are being used to manage patients with MG. To obtain credit visit"
YouTube Link 2025-10-07T17:22Z [----] followers, [--] engagements

"Chapter 4: Lessons Learnt from Gene Therapy Trials Nicola Longo MD PhD and Mark Roberts MD Nicola Longo MD PhD Professor and Vice Chair of Human Genetics Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine Division of Clinical Genetics Department of Human Genetics University of California at Los Angeles (UCLA) Los Angeles CA USA Mark Roberts MD Professor and Consultant Neurologist University of Manchester Manchester UK Research Lead for Adult Metabolic Medicine at Salford Care Organisation Manchester UK Drs.Longo and Roberts discussed the current status of gene therapies in rare"
YouTube Link 2025-12-21T11:42Z [----] followers, [---] engagements

"Jenn McNarry Discusses the Sarepta AdCom and the Role of the Patient Advocate Jennifer McNary Rare Disease Advocate looks back at the Sarepta AdComm for Exondys [--] in [----]. She also discusses the role of the patient advocate. Duchenne muscular dystrophy occurs in one out of every [----] male infants and it's even rarer in girls. The deadly diagnosis is due to an inherited gene mutation although it can be caused by a random gene mutation too. Boys with the condition don't produce the protein dystrophin so their muscles are weak and can be easily damaged. Children can appear to develop slowly and"
YouTube Link 2018-11-02T09:24Z [----] followers, [---] engagements

"Phase [--] UNITY-NHL Study Regarding Umbralisib Owen A. OConnor Chief Scientific Officer at TG Therapeutics describes the phase [--] UNITY-NHL study the results of which led to the FDAs approval of umbralisib"
YouTube Link 2025-10-06T15:05Z [----] followers, [--] engagements

"Chapter 6: Understanding and Preparing Risk Factors Associated With AAV Gene Therapies Julie A. Parsons MD Haberfield Endowed Chair in Pediatric Neuromuscular Disorders Professor of Clinical Pediatrics and Neurology University of Colorado School of Medicine Children's Hospital Colorado Aurora CO USA Now with our collective experience we can at least put together the information that we have in terms of what can we expect and what's the timeline that we expect in terms of our patients having reactions. I will tell you and I've said this multiple times when I deliver a gene transfer therapy I"
YouTube Link 2025-12-22T20:08Z [----] followers, [---] engagements

"Using Artificial Intelligence to Analyze Castleman Disease Histopathology Robert S. Ohgami MD PhD Professor of Pathology University of Utah and Founding Vice President and Chief Medical Director ARUP Institute for Research and Innovation discusses the utilization of artificial intelligence (AI) to analyze Castleman disease (CD) histopathology. CD is a heterogeneous group of rare lymphoproliferative disorders affecting the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a localized condition that is generally confined to a single"
YouTube Link 2026-01-26T20:32Z [----] followers, [---] engagements

"Plans for Phase 2/3 Clinical Trial of Bexmarilimab Plus SOC in Patients With MDS Amer Zeidan MBBS MHS Professor of Internal Medicine at Yale School of Medicine and Chief of the Division of Hematologic Malignancies at Yale Cancer Center discusses plans for a phase 2/3 clinical trial testing bexmarilimab plus standard of care 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"
YouTube Link 2025-09-24T15:57Z [----] followers, [---] engagements

"How the TED Community Organization Helps Patients With Thyroid Eye Disease Take Their Lives Back #rarediseases #thyroideyedisease #patientadvocacy Christine Gustafson Executive Director and CEO of the TED Community Organization discusses her personal journey with thyroid eye disease (TED) and why she started the TED Community Organization. TED is a chronic endocrine autoimmune disease characterized by immune-mediated orbital inflammation that greatly impacts a persons vision. The condition often occurs in people with hyperthyroidism or Graves disease but also can occur in association with"
YouTube Link 2026-01-22T18:20Z [----] followers, [---] engagements

"What is Primary Hyperoxaluria Type [--] Tracy McGregor MD Director of Clinical Research at Alnylam Pharmaceuticals gives an overview of primary hyperoxaluria type [--] (PH1). As Dr. McGregor explains 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). In November [----] the U.S. Food and Drug Administration (FDA) approved lumasiran to treat PH1. To learn more about PH1 and other rare kidney diseases visit"
YouTube Link 2021-03-29T18:21Z [----] followers, [---] engagements

"Trofinetide for the Treatment of Rett Syndrome Ponni Subbiah MD MPH Senior Vice President Global Head of Medical Affairs and Chief Medical Officer Acadia Pharmaceuticals talks about their work regarding Rhett syndrome Transcript: I'm Ponni Subbiah and I'm the Senior Vice President and global head of medical affairs and Chief Medical Officer at Acadia. Acadia's work in Rett started in [----] when we had an exclusive licensing agreement with Neuren Pharmaceuticals Limited to develop and commercialize trofinetide in Rett syndrome as well as another indications in North America. This was then"
YouTube Link 2024-01-02T10:00Z [----] followers, [---] engagements

"The n-Lorem Foundation Provides Treatment for Patients with Ultra-Rare Diseases Stanley Crooke MD PhD Founder Chairman and Chief Executive Officer of Ionis Pharmaceuticals discusses the n-Lorem Foundation the nonprofit organization he founded. The n-Lorem Foundation is a charitable foundation focused on bringing treatment to patients with ultra-rare genetic mutations - mutations that affect [--] to [--] individuals in the world. According to Dr. Crooke the charitable model is possible in this case because of Antisense Therapy a technology developed at Ionis which has been fully validated and shown"
YouTube Link 2021-05-06T15:40Z [----] followers, [--] engagements

"Corbus Pharma Provides an Update on Their Clinical Trial Programs Yuval Cohen PhD CEO of Corbus Pharmaceuticals provides and update on his company's clinical trial programs. Lenabasum is 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"
YouTube Link 2018-06-12T19:44Z [----] followers, [---] engagements

"Chapter 1: Introduction to Gene Directed Therapies Drs. Beggs and Parsons discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at the MDA [----] conference in Dallas Texas in March [----] and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established in contents of"
YouTube Link 2025-12-22T14:28Z [----] followers, [---] engagements

"How the Lennox-Gastaut Syndrome Foundation Helps LGS Patients and Families Tracy Dixon-Salazar PhD Executive Director of the Lennox-Gastaut Syndrome (LGS) Foundation describes the resources the foundation has in order to help the LGS community. LGS is a rare neurological condition that usually begins in childhood. It is characterized by multiple types of seizures and intellectual disability. LGS patients often have multiple seizures per day. These seizures are often treatment-resistant. LGS patients are also prone to seizure clusters and status epilepticus. The condition is not congenital. It"
YouTube Link 2021-08-02T23:04Z [----] followers, [---] engagements

"Chapter 5: Factors Impacting Safety and Efficacy of AAV Mediated Gene Therapies Julie A. Parsons MD Haberfield Endowed Chair in Pediatric Neuromuscular Disorders Professor of Clinical Pediatrics and Neurology University of Colorado School of Medicine Children's Hospital Colorado Aurora CO USA The gene transfer trials for musculoskeletal disorders if we look at musculoskeletal and neurologic disorders we really do have the highest success rate in terms of treatment but we also carry the highest incidence of treatment-emergent severe adverse events. And why is that true Yesterday when we were"
YouTube Link 2025-12-22T14:40Z [----] followers, [---] engagements

"FDA Grants Fast Track Designation to Myasthenia Gravis Therapy Jan Klatt MD Head of Development Unit Neurology & Immunology Merck Healthcare Germany discusses the U.S. Food and Drug Administrations (FDA) Fast Track designation of cladribine capsules for patients with generalized myasthenia gravis (gMG). gMG is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eye and eyelid facial expressions chewing talking and swallowing. The condition results from a defect in the transmission of"
YouTube Link 2026-01-07T18:00Z [----] followers, [---] engagements

"Pivotal PFIC Clinical Trials Meet Primary Endpoints: FDA Submission Expected in Early [----] Ron Cooper President and CEO of Albireo Pharma discusses the results from two clinical trials assessing odevixibat to treat progressive familial intrahepatic cholestasis (PFIC). PFIC is a rare genetic disorder that causes progressive life-threatening liver disease due to an inability to properly bile acids from the liver. The most common manifestation of PFIC is pruritus which often results in a severely diminished quality of life. In many cases this disease leads to cirrhosis and liver failure within"
YouTube Link 2020-12-07T18:59Z [----] followers, [---] engagements

"New and Emerging Phenotypes in Lysosomal Storage Disorders Drs. Ozlem Goker-Alpan and Uma Ramaswami discuss how the success of therapies to treat lysosomal storage disorders like Pompe disease Gaucher disease and various MPSs has created phenotypes that previously did not exist. This CME/CE activity is possible through an educational grant from Takeda Cheisi Ultragenyx Pharmaceuticals and Spark Therapeutics. To obtain credit for this activity please visit https://checkrare.com/learning-center/courses/"
YouTube Link 2025-10-06T15:22Z [----] followers, [--] engagements

"XLH Community Impact Survey: Overview and Results Jill H. Simmons MD Endocrinologist at Vanderbilt University Medical Center in Nashville Tennessee provides an overview of the XLH Community Impact Survey and its results. My name is Dr. Jill Simmons. I am a pediatric endocrinologist at Vanderbilt University Medical Center in Nashville Tennessee. I am director of the Pediatric Metabolic Bone Disorders program here at Vanderbilt. I have been working in the field of rare metabolic bone disorders for about [--] years. Certainly as part of that I work with patients with XLH primarily in the pediatric"
YouTube Link 2025-08-21T18:44Z [----] followers, [---] engagements

"Hereditary ATTR Amyloidosis Overview Pushkal Garg MD Chief Medical Officer at Alnylam discusses 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 is caused by a different misfolded protein. There are multiple types of amyloidosis including amyloid A (AA) amyloidosis and amyloid light chain (AL)"
YouTube Link 2019-02-05T11:58Z [----] followers, [----] engagements

"The Ultragenyx Phase [--] and [--] Orbit Study Eric Crombez MD Chief Medical Officer of Ultragenyx explains Ultragenyx and Mereo BioPharmas interim Phase 2/3 Orbit Study. Transcription: Orbit is the name we have given to our ongoing phase [--] [--] study. We have been talking about the data from the phase [--] study for a little while now. What's exciting is we now have had patients in study long enough that we can also look at fracture rates. Originally the phase [--] portion of the study like all phase [--] studies was really designed to establish initial safety and really select a dose that you bring forward"
YouTube Link 2023-11-17T04:31Z [----] followers, [---] engagements

"Consider Rare: Suspecting and Diagnosing Hereditary Angioedema (HAE) Hereditary angioedema (HAE) is a rare condition often due to reduced levels C1-inhibitor which is 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 these processes cause fluid to leak from the blood to connective tissue leading to HAE attacks. Owing to its rarity HAE is often poorly recognized leading to misdiagnoses and"
YouTube Link 2025-10-07T17:39Z [----] followers, [---] engagements

"The Importance of Consulting Patients When Developing a Clinical Trial Jennifer McNary Head of Patient Advocacy and Engagement at Fulcrum Therapeutics and mother to two boys with Duchenne muscular dystrophy discusses the importance of clinically meaningful primary outcomes in clinical trials. Fulcrum Therapeutics is enrolling patients with facioscapulohumeral muscular dystrophy (FSHD) to test their drug losmapimod as a possible treatment. FSHD is a rare progressive musculoskeletal disease in which persons initially lose muscle strength in the face shoulders arms and trunk but later the"
YouTube Link 2022-08-24T11:12Z [----] followers, [--] engagements

"EMA Pathway to Approval for Mavorixafor to Treat Patients with WHIM Syndrome Paula Ragan President and Chief Executive Officer of X4 Pharmaceuticals discusses the pathway of approval under the European Medicines Agency (EMA) for mavorixafor for patients with WHIM syndrome. WHIM syndrome is an acronym for a rare immunodeficiency disorder with each letter representing a predominant feature of the condition: warts hypogammaglobulinemia infections and myelokathexis. Symptoms usually begin in early childhood with recurrent bacterial infections such as respiratory infections and cellulitis. It is"
YouTube Link 2025-02-03T15:28Z [----] followers, [---] engagements

"Neurofibromatosis Type 1: Diagnosis James Cassidy MD PhD Chief Medical Officer at SpringWorks Therapeutics discusses how neurofibromatosis type [--] (NF1) is diagnosed and its typical prognosis. NF1 is a genetic disorder due to mutations in the NF1 gene that leads to a plethora of symptoms including cutaneous neurofibromas cafe au lait spots plexiform neurofibromas motor dysfunction airway dysfunction bowel/bladder dysfunction and disfigurement. Learning difficulties visual impairment twisting and curvature of the spine hypertension and epilepsy may also develop in NF1 patients. As Dr. Cassidy"
YouTube Link 2021-11-01T10:37Z [----] followers, [---] engagements

"Myasthenia Gravis and the Complement System: Pathophysiology This 15-minute CME-accredited program highlights the connection between the complement system and myasthenia gravis in regards to the pathophysiology of this rare disease. 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 UCB. Start date: December [--] [----]. End date: December [--] [----] To receive CME credit go to https://checkrare.com/learning/p-myasthenia-gravis-and-the-complement-system-pathophysiology/ Activity"
YouTube Link 2025-10-07T17:22Z [----] followers, [--] engagements

"PH1 Patient Recalls Her Many Challenges (e.g. No Friends Urine Pouch Covid-19) Mayah a college student with primary hyperoxaluria type [--] (PH1) goes through a few of her most memorable moments with the disease. 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. Mayah shows a piece of a kidney stone that had to be removed through her back in [----]. After the stone was removed Mayah says she had a disagreement with her"
YouTube Link 2021-03-18T21:49Z [----] followers, [---] engagements

"Approval of Nerandomilast Tablets To Treat Patients With Progressive Pulmonary Fibrosis Shervin Assassi MD Director Division of Rheumatology at McGovern Medical School discusses the approval of Jascayd (nerandomilast) tablets for treatment of patients with progressive pulmonary fibrosis (PPF). PPF is a subcategory of interstitial lung disease (ILD) characterized by progressive scarring of the walls of the air sacs in the lung. PPF is not a specific diagnosis but a disease behavior that can occur in many types of ILD. Signs and symptoms include shortness of breath cough fatigue depression and"
YouTube Link 2026-01-26T18:13Z [----] followers, [---] engagements

"Chapter 1: Lysosomal Disorders and the Potential for Gene Therapies Chapter 1: Lysosomal Disorders and the Potential for Gene Therapy Nicola Longo MD PhD and Mark Roberts MD Nicola Longo MD PhD Professor and Vice Chair of Human Genetics Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine Division of Clinical Genetics Department of Human Genetics University of California at Los Angeles (UCLA) Los Angeles CA USA Mark Roberts MD Profesor and Consultant Neurologist University of Manchester Manchester UK Research Lead for Adult Metabolic Medicine at Salford Care Organisation"
YouTube Link 2025-12-21T11:54Z [----] followers, [---] engagements

"What is Niemann-Pick Disease Type C (NPC) Marc C. Patterson MD Professor of Neurology Pediatrics and Medical genetics and Chair of the Division of Child and Adolescent Neurology at the Mayo Clinic in Rochester MN gives an overview of Niemann-Pick disease type C (NPC). As Dr. Patterson explains NPC is a disabling neurogenetic disorder that has been diagnosed prenatally neonatally during childhood and even into adulthood. This very rare genetic disorder is marked by progressive motor dysfunction and a highly variable symptom profile and onset of symptoms. The underlying principal abnormality is"
YouTube Link 2022-04-27T10:48Z [----] followers, [----] engagements

"Management of IgA Nephropathy Richard Lafayette MD FACP Director of the Stanford Glomerular Disease Center Editor-in-Chief of ASN Kidney News and Rheumatologist at Stanford Health Care describes the current standard of care for immunoglobulin A (IgA) nephropathy. IgA nephropathy also known as Bergers disease is a rare kidney disease characterized by build up 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 over many years. Eventually IgA"
YouTube Link 2021-08-26T22:31Z [----] followers, [----] engagements

"ELX-02: Emerging Therapy for Cystic Fibrosis Mr. Robert (Bob) E. Ward Chairman of the Board and Chief Executive Officer of Eloxx Pharmaceuticals provides an overview of his company's leading drug candidate ELX-02 for cystic fibrosis. ELX-02 is designed to increase the read-through activity in patients with nonsense mutations and enable the production of sufficient amounts of full-length protein to restore activity of the mutated protein. ELX-02 is focused on development for cystic fibrosis and cystinosis patients with diagnosed nonsense mutations on one or both alleles represents a high unmet"
YouTube Link 2018-06-20T17:38Z [----] followers, [---] engagements

"Alpha-Mannosidosis Overview Featuring Laura Buch MSPAS PA-C In this first part of our four-part series on alpha-mannosidosis we feature Laura Buch a physician assistant who practices medical genetics at the Greenwood Genetic Center in South Carolina. Lauras work focuses on the diagnosis and treatment of patients with abnormal newborn screens inborn errors of metabolism and lysosomal storage disorders. She also cares for alpha-mannosidosis patients. Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought"
YouTube Link 2025-10-07T17:22Z [----] followers, [--] engagements

"Rare Disease Drug Development and Patient Centricity Nick Kenny PhD Chief Scientific Officer at Syntheos Health understands the important role patients play in developing orphan drugs and designing clinical trials. Recently we talked to Dr. Kenny at the BIO International Convention held in Philadelphia PA. Dr. Kenny noted that most parties including investors clinicians and regulators understand that patient input is essential for the development new medicines. I was listening to a panel discussion at JP Morgan earlier this year and investment groups are now insisting in many instances that"
YouTube Link 2019-06-30T12:32Z [----] followers, [---] engagements

"Six New High-Risk Alterations Identified for Pediatric AML Adam Lamble MD Attending Physician Cancer and Blood Disorders Center Seattle Childrens Hospital discusses a recent study that lists six high-risk alterations of acute myeloid leukemia (AML) that ought to be included in Children's Oncology Groups (COG) contemporary risk classification system. These findings were recently presented at this years American Society of Hematology Meeting & Exposition (ASH 2022). AML is a rare progressing blood cancer that most often occurs in people over the age of [--] years but it can occur in children as"
YouTube Link 2023-01-09T22:30Z [----] followers, [---] engagements

"How Horizon Plans to Expand NMOSD Research Quinn Dinh MD Vice President of Medical Affairs at Horizon Therapeutics discusses areas of research Horizon is focusing on in regard to inebilizumab-cdon (uplizna) and neuromyelitis optica spectrum disorder (NMOSD). 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 uncontrollable vomiting and hiccups and bladder/bowel problems due to spinal cord damage. As Dr. Dinh mentions"
YouTube Link 2021-05-26T18:56Z [----] followers, [---] engagements

"Follicular Lymphoma and Marginal Zone Lymphoma Owen A. OConnor Chief Scientific Officer at TG Therapeutics gives an overview of follicular lymphoma (FL) and marginal zone lymphoma (MZL)"
YouTube Link 2025-10-06T15:05Z [----] followers, [--] engagements

"Dean Suhr Discussing Three Rare Disease Initiatives: MLD Foundation Rare Army and Keep Smiling Dean Suhr President MLD Foundation and Chairman Patient Advocacy Advisory Board RARE Project discusses three rare disease initiatives he heads up: The MLD Foundation Rare Army and Keep Smiling. http://mldfoundation.org http://www.rare.army"
YouTube Link 2019-03-14T23:33Z [----] followers, [--] engagements

"What is Paroxysmal Nocturnal Hemoglobinuria Cedric Francois MD PhD Co-Founder & CEO of Apellis Pharmaceuticals gives an overview of paroxysmal nocturnal hemoglobinuria (PNH)"
YouTube Link 2025-10-06T15:05Z [----] followers, [--] engagements

"Theranostics and Lysosomal Disorders Duarte C. Barral PhD Associate Professor NOVA Medical School NOVA University of Lisbon Portugal; Nuno Raimundo PhD Associate Professor Department of Cellular and Molecular Physiology; Penn State College of Medicine Pennsylvania USA; Betul Celik PhD Postdoctoral Fellow Nemours Childrens Health Delaware USA; and Gregory Newby PhD Assistant Professor Department of Genetic Medicine Johns Hopkins School of Medicine Maryland USA discuss the principles of theranostics and its application in lysosomal disorders. This continuing education activity is provided"
YouTube Link 2025-12-31T18:50Z [----] followers, [---] engagements

"Henri A. Termeer Tribute Committee Dr. John Maraganore CEO of Alnylam discusses Henri A. Termeer Tribute Committee. A number of industry leaders have joined forces to form this Committee with the mission to commemorate Henri Termeers remarkable stewardship of the local biotech industry and his undeterred commitment to revolutionize the care of patients afflicted with rare diseases. The committee co-chaired by Robert Coughlin CEO MassBio and John Maraganore CEO of Alnylam has launched a campaign to pay tribute to Henri with initiatives that include renaming of the North Plaza in Kendall Square"
YouTube Link 2018-05-04T22:56Z [----] followers, [--] engagements

"Children's Tumor Foundation Annette Bakker PhD President and Chief Scientific Officer of the Children's Tumor Foundation discusses how her company works with the pharma and biotech industries specifically SpringWorks Therapeutics. SpringWorks Therapeutics is planning to initiate a Phase [--] program to establish safety and efficacy of nirogacestat (PF-03084014) its gamma-secretase inhibitor and will work collaboratively with the Desmoid Tumor Research Foundation to enable the needs of the patient community to be addressed"
YouTube Link 2018-05-29T00:53Z [----] followers, [--] engagements

"Nirogacestat Being Evaluated for Desmoid Tumors in Adults and Children James Cassidy MD PhD Chief Medical Officer at SpringWorks Therapeutics discusses the phase [--] DeFi trial and phase [--] pediatric study of nirogacestat as a treatment for Desmoid tumors. Desmoid tumors are benign tumors that can grow anywhere on the body into surrounding healthy tissues including joints muscle and viscera. These rare tumors can cause significant pain internal bleeding and reduced mobility. These benign tumors are notoriously recurrent especially with surgical removal and each recurrence tends to be more"
YouTube Link 2021-10-19T10:11Z [----] followers, [---] engagements

"Chapter 5: Current Treatment Landscape and Limitations Nicola Longo MD PhD and Mark Roberts MD Drs. Longo and Roberts discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at WORLDSymposium [----] in San Diego California on February 4th-7th [----] and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents"
YouTube Link 2025-12-21T11:44Z [----] followers, [---] engagements

"Long-Term Efficacy of Daratumumab-Based Regimen in Multiple Myeloma Shaji K. Kumar MD Professor of Medicine at Mayo Clinic discusses long-term efficacy and post-hoc subgroup analyses of MAIA a phase [--] study evaluating the efficacy of daratumumab in combination with lenalidomide and dexamethasone (D-Rd) to that of lenalidomide and dexamethasone (Rd) in multiple myeloma patients. Outcome measures and data from post-hoc analyses were recently presented at the American Society of Hematology Meeting & Exposition (ASH 2022). Multiple myeloma is a blood cancer associated with uncontrolled growth of"
YouTube Link 2023-01-09T17:46Z [----] followers, [---] engagements

"How Amicus Therapeutics Decides Which Gene Therapy to Focus On John Crowley CEO and Chairman at Amicus Therapeutics describes how his company decides which rare diseases to focus their drug development program towards. At present the have numerous gene therapies including ones to treat Batten disease Fabry disease Pompe disease CDKL5 deficiency disorder and Niemann-pick type C. The companys gene therapy programs are in partnership with researchers at the University of Pennsylvania and Nationwide Children's Hospital. Batten disease is a group of progressive neurological disorders known as"
YouTube Link 2020-03-16T11:10Z [----] followers, [---] engagements

"Hunter Syndrome and The [---] Patient Project Matthew Ellinwood DMV PhD Chief Scientific Officer at the MPS Society explains the [---] Patient Project a patient registry underway to better understand mucopolysaccharidosis II (MPS II). MPS II or Hunter syndrome is a rare lysosomal disease due to mutations in the iduronate 2-sulfatase (IDS) gene. More than [---] IDS disease-causing mutations have been implicated in MPS II. That along with the wide variance in symptoms and symptom severity in MPS II patients reinforces the need to better understand the link between the genetics of this condition and"
YouTube Link 2022-04-07T11:18Z [----] followers, [---] engagements

"ReNeu Trial Recruiting Young NF1 Patients James Cassidy MD PhD Chief Medical Officer at SpringWorks Therapeutics discusses the ReNeu trial which is designed to evaluate the safety effectiveness and tolerability of mirdametinib in neurofibromatosis type [--] patients with inoperable plexiform neurofibromas. NF1 is a genetic disorder due to mutations in the NF1 gene that leads to a plethora of symptoms including cutaneous neurofibromas cafe au lait spots and plexiform neurofibromas which can cause pain motor dysfunction airway dysfunction bowel/bladder dysfunction and disfigurement. Learning"
YouTube Link 2021-11-15T12:14Z [----] followers, [---] engagements

"Patient Experience With Myasthenia Gravis Thomas Bartlett myasthenia gravis patient and Patient Ambassador for the Myasthenia Gravis Foundation of America (MGFA) discusses his personal experience with the disease and keeping hope for future treatment options and care. Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. The condition results from a defect in the transmission of nerve impulses to muscles which is due to the presence of antibodies against acetylcholine. The exact reason this occurs is not known. Common symptoms"
YouTube Link 2024-06-05T18:04Z [----] followers, [----] engagements

"Treatment Comparisons for Left Ventricular Mass Index in Fabry Disease Eric Wallace MD Professor of Nephrology at The University of Alabama at Birmingham discusses an analysis of treatment comparisons between pegunigalsidase alfa versus other therapies for left ventricular mass index (LVMi) in Fabry disease. Fabry disease is a rare lysosomal storage disease characterized by a deficiency of alpha-galactosidase (alpha-GAL). Alpha-GAL is important in the breaking down of globotriaosylceramide (GL3). Without enough alpha-GAL the lysosomes become filled with GL-3 and can not work well. Symptoms of"
YouTube Link 2025-02-27T18:26Z [----] followers, [--] engagements

"Early Use of IBAT Inhibitors in PFIC This educational program hosted by Patrick McKiernan MD Pediatric Hepatologist at Birmingham Children's Hospital NHS Foundation Trust and Nadia Ovchinsky MD Professor of Medicine at NYU Grossman School of Medicine discuss the rationale for the early use of IBAT inhibitors in patients suspected of having progressive familial intrahepatic cholestasis (PFIC). PFIC encompasses a spectrum of autosomal recessive disorders characterized by impaired bile flow (cholestasis) due to defects in biliary epithelial transporters. These rare genetic conditions typically"
YouTube Link 2025-05-06T17:01Z [----] followers, [---] engagements

"Eight Rare Genetic Diseases Selected to Develop Gene Therapy Development Playbooks Courtney Silverthorn Ph.D. Associate Vice President for Science Partnerships at the Foundation for the National Institutes of Health (FNIH) discusses the recent announcement that the Accelerating Medicines Partnership Bespoke Gene Therapy Consortium (AMP BGTC) has selected eight rare diseases for its clinical trial portfolio. The eight diseases are: Charcot-Marie-Tooth disease type 4J Congenital Hereditary Endothelial Dystrophy Morquio A Syndrome Multiple Sulfatase Deficiency NPHP5 Retinal Degeneration"
YouTube Link 2023-05-30T14:44Z [----] followers, [---] engagements

"Results From the DeFi Clinical Trial of Nirogacestat in Patients With Desmoid Tumors Bernd Kasper MD PhD University of Heidelberg Cancer Center discusses results from the DeFi clinical trial of nirogacestat in patients with desmoid tumors. Desmoid tumors are abnormal growths that arise from connective tissue. The tumors can occur anywhere in the body and are fibrous much like scar tissue. They are generally not considered malignant because they do not metastasize however they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. These tumors often"
YouTube Link 2025-11-04T16:05Z [----] followers, [--] engagements

"Chapter 2: AAV Mediated Gene Therapies Alan Beggs PhD Director of the Manton Center for Orphan Disease Research Sir Edwin and Lady Manton Professor of Pediatrics Boston Children's Hospital Harvard Medical School Boston MA USA Julie A. Parsons MD Haberfield Endowed Chair in Pediatric Neuromuscular Disorders Professor of Clinical Pediatrics and Neurology University of Colorado School of Medicine Children's Hospital Colorado Aurora CO USA Doctors Beggs and Parsons discuss the current status of gene therapies in rare neuromuscular disorders in this eight part podcast series. This is derived from"
YouTube Link 2025-12-22T14:29Z [----] followers, [---] engagements

"Investigational Drug Provides Improved Quality of Life for PNH Patients Cedric Francois MD PhD Co-Founder & CEO of Apellis Pharmaceuticals discusses the results of the PEGASUS study evaluating the efficacy and safety of pegcetacoplan in patients with paroxysmal nocturnal hemoglobinuria (PNH). 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. The PEGASUS"
YouTube Link 2021-04-14T18:43Z [----] followers, [---] engagements

"52-Week Results From the VERIFY Clinical Trial of Rusfertide in Patients With Polycythemia Vera Andrew T. Kuykendall MD VERIFY Lead Investigator and Associate Member in the Department of Hematology at Moffitt Cancer Center discusses 52-week results from the VERIFY clinical trial testing rusfertide in patients with polycythemia vera (PV). PV is a condition characterized by an increased number of red blood cells. Affected people may also have excess white blood cells and platelets. The excess cell levels leads to thicker blood and increased risk for blood clots. PV occurs more frequently in men"
YouTube Link 2026-01-26T19:55Z [----] followers, [---] engagements

"Survey Showcases the Overwhelming Burden that AADC Deficiency Has on Caregivers Kylie OKeefe Senior Vice President Head of Global Commercial and Corporate Strategy at PTC Therapeutics discusses the results of a recent study on the impact of caring for an individual with aromatic L-amino acid decarboxylase (AADC) deficiency. AADC deficiency is a rare genetic disorder due to a defect in the dopa decarboxylase (DDC) gene that reduces the synthesis of dopamine norepinephrine epinephrine and melatonin. As Ms. OKeefe explains the results of a study exploring the health-related quality of life"
YouTube Link 2021-09-15T10:39Z [----] followers, [---] engagements

"Chapter 3: Immune Responses and Other Safety Concerns Related to Gene Therapies Nicola Longo MD PhD and Mark Roberts MD Nicola Longo MD PhD Professor and Vice Chair of Human Genetics Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine Division of Clinical Genetics Department of Human Genetics University of California at Los Angeles (UCLA) Los Angeles CA USA Mark Roberts MD Profesor and Consultant Neurologist University of Manchester Manchester UK Research Lead for Adult Metabolic Medicine at Salford Care Organisation Manchester UK Drs. Longo and Roberts discuss the current status"
YouTube Link 2025-12-21T11:42Z [----] followers, [--] engagements

"Catching the Clues Changing the Course of Lysosomal Storage Disorders Chair Professor Yoshikatsu Eto Advanced Clinical Research Center Southern Tohoku Research Center for Neuroscience Tokyo Japan Speakers Dr Nicole Muschol International Center for Lysosomal Disorders (ICLD) University Medical Center Hamburg-Eppendorf Germany Professor Patrcio Aguiar Inborn Errors of Metabolism Reference Center Unidade Local de Sade de Santa Maria / Faculty of Medicine Lisbon University Portugal Dr Robert Hopkin Cincinnati Childrens Hospital Medical Center Cincinnati Ohio USA Professor Yoshikatsu Eto Welcome"
YouTube Link 2025-12-10T16:41Z [----] followers, [--] engagements

"FDA Approval: Crinecerfont for Congenital Adrenal Hyperplasia Dina Matos Executive Director of the CARES Foundation discusses the recent approval of crinecerfont to treat patients with congenital adrenal hyperplasia (CAH) by the U.S. Food and Drug Administration (FDA). CAH refers to a group of genetic conditions that affect the adrenal glands. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens. For example females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed"
YouTube Link 2025-02-03T16:45Z [----] followers, [---] engagements

"Albiero Pharma Overview and Focus on Rare Pediatric Liver Diseases Editor's Note: This interview was conducted at #Bio2018. Please pardon the background noise. Ron Cooper President and CEO of Albireo discusses his company and lead product. Albireo is a clinical-stage biopharmaceutical company focused on the development of novel bile acid modulators to treat orphan pediatric liver diseases and other liver or gastrointestinal diseases and disorders. Albireo's leading product is A4250 a potent and selective inhibitor of the ileal bile acid transporter (IBAT) sometimes also referred to as the"
YouTube Link 2018-08-15T11:49Z [----] followers, [---] engagements

"New Treatments May Be Available for Niemann-Pick Disease Soon Joslyn Crowe Executive Director of the National Niemann-Pick Disease Foundation (NNPDF) talks about the programs the foundation has developed to help families be prepared when treatments get approved for Niemann-Pick disease. Niemann Pick disease is a series of rare lysosomal storage disorders in which toxic quantities of lipids accumulate in the spleen liver lungs bone marrow and brain. Niemann-Pick disease is divided into four main types: type A type B type C1 and type C2. These types are classified on the basis of genetic cause"
YouTube Link 2020-10-29T18:24Z [----] followers, [---] engagements

"Positive Long-Term Data of Ibrutinib + Venetoclax as First-Line Treatment for Chronic Lymphocytic. Paolo Ghia MD PhD Professor at the Universit Vita-Salute San Raffaele Milan Italy discusses the updated long-term data from the phase [--] CAPTIVATE study. This study evaluated ibrutinib plus venetoclax as a first-line treatment for chronic lymphocytic leukemia (CLL); data from this trial was recently presented at the American Society of Hematology Meeting & Exposition (ASH 2021)"
YouTube Link 2025-10-06T15:22Z [----] followers, [--] engagements

"Progressive Familial Intrahepatic Cholestasis (PFIC) Overview Shannon Palmatier is the mother of two boys with progressive familial intrahepatic cholestasis (PFIC) a rare hereditary disease in which children are unable to properly remove bile acids from their liver. The disease is an autosomal recessive disorder and is linked to mutations from several genes including ATP8B1 ABCB11 and ABCB4. Symptoms and their severity vary greatly among this population but the more common symptoms are severe itching and jaundice. Treatment options will also vary but may include ursodiol biliary diversion or"
YouTube Link 2020-04-16T13:31Z [----] followers, [----] engagements

"Impact of COVID-19 on Rare Disease Pharmaceutical Company Erik Harris Executive Vice President and Chief Commercial Officer at Ultragenyx Pharmaceutical Inc. discusses how the COVID-19 pandemic has impacted the company. According to Mr. Harris Ultragenyx has always worked closely with patients and pharmacies to provide treatment as conveniently and safely as possible. As an example Mr. Harris discussed how Ultragenyxs distribution of burosumab-twza (Crysvita) has changed since the rise of COVID-19. Notably the company proactively reached out to patients being treated with burosumab-twza to"
YouTube Link 2020-09-24T16:14Z [----] followers, [---] engagements

"Neuroblastoma: The Childrens Oncology Group Navin Pinto MD Professor of Pediatrics at the University of Colorado Anschutz Medical Campus and Colorado Childrens Hospital discusses the Childrens Oncology Group and their work in neuroblastoma. Neuroblastoma is a rare cancer that largely afflicts infants or children. It develops from neuroblasts in the sympathetic nervous system.The tumor most often develops in the adrenal gland but may develop in the neck chest or spinal cord. In most cases the tumor has metastasized by the time it is diagnosed. A neuroblastoma can cause a variety of signs and"
YouTube Link 2025-09-29T19:06Z [----] followers, [---] engagements

"ArQule Overview Editor's Note: This interview was conducted at #Bio2018. Please pardon the background noise. Brian Schwartz Chief Medical Officer of ArQule discusses his company and it's clinical-stage pipeline consistlng of five drug candidates all of which are in targeted biomarker-defined patient populations. - Derazantinib (ARQ 087) is an investigational oral multi-kinase inhibitor designed to preferentially inhibit the FGFR family of kinases with demonstrated activity in FGFR2 genetic alterations including fusions. The drug has demonstrated favorable clinical data in a biomarker-driven"
YouTube Link 2018-07-01T20:53Z [----] followers, [---] engagements

"Kygevvi for Patients With Thymidine Kinase [--] Deficiency Kim Moran Head of U.S. Rare Diseases at UCB discusses the approval of Kygevvi (doxecitine and doxribtimine) for patients with thymidine kinase [--] deficiency (TK2d). TK2d is a rare genetic disease characterized by progressive and severe muscle weakness. It is often fatal with those experiencing initial symptoms on or before the age of [--] years facing a high risk of premature death (often occurring within [--] years after symptom onset). Other common symptoms include breathing difficulties weakness in the eye muscles and trouble chewing and"
YouTube Link 2025-12-04T15:48Z [----] followers, [--] engagements

"Lynch Syndrome: A Patients Experience With Genetic Testing and Increased Risk of Cancer Tiffany Graham Charkosky author and patient with Lynch syndrome discusses her experience with genetic testing and her book LIVING PROOF: How Love Defied Genetic Legacy. Lynch syndrome is a rare inherited condition characterized by increased risk for colorectal endometrial and several other types of cancers. It is caused by mutation in one of five different genes: MLH1 MSH2 MSH6 PMS2 or EPCAM. Patients with Lynch syndrome are more likely to develop cancer before [--] years of age. Tiffany was [--] years old"
YouTube Link 2025-10-22T16:19Z [----] followers, [---] engagements

"Newborn Screening: From RUSP to Reality This accredited CME activity led by Jerry Vockley MD PhD Chief of Genetic and Genomic Medicine at the University of Pittsburgh is the first module in a four-part curriculum focused on Best Practices for Explaining Newborn Screening Results to Parents. This module will provide clinicians with the fundamentals of newborn screening. Supported by an educational grant from bluebird bio Inc. and Ultragenyx Pharmaceutical Inc. To obtain CME credit please go to https://checkrare.com/learning-center/courses/"
YouTube Link 2025-10-06T16:16Z [----] followers, [--] engagements

"Rare Disease Drug Development at Albireo Ron Cooper President and CEO of Albireo discusses drug development at Albireo which has a clinical trial in progressive familial intrahepatic cholestasis (PFIC) a rare genetic condition that affects the liver. PFIC is estimated to affect between one in every [-----] to [------] children born worldwide and causes progressive life-threatening liver disease. The most prominent and problematic ongoing manifestation of PFIC is pruritus which often results in a severely diminished quality of life. In many cases PFIC leads to cirrhosis and liver failure within"
YouTube Link 2018-08-08T11:31Z [----] followers, [---] engagements

"Five-Year Study Results in Patients With Fabry Disease Aneal Khan MD President of MAGIC Clinic (Metabolics and Genetics in Canada) discusses five year end-of-study results from the FACTs trial in patients in Fabry disease. Fabry disease is a rare lysosomal storage disease characterized by a deficiency of the enzyme alpha-galactosidase (alpha-GAL) that helps break down GL3. Symptoms of Fabry disease may include episodes of pain especially in the hands and feet angiokeratomas hypohidrosis corneal opacity and hearing loss. Internal organs such as the kidney heart or brain may also be affected"
YouTube Link 2025-02-21T18:36Z [----] followers, [--] engagements

"Myasthenia Gravis and the Complement System This 45-minute CME-accredited program highlights the connection between the complement system and myasthenia gravis in regards to the pathophysiology and treatment of this rare disease. 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 UCB. Start date: December [--] [----]. End date: December [--] [----] To receive CME credit go to https://checkrare.com/learning/p-myasthenia-gravis-and-the-complement-system/ Activity Faculty James F"
YouTube Link 2025-10-07T17:22Z [----] followers, [--] engagements

"Interim Data Gives Hope to Myelofibrosis Patients Facing Sup-Optimal Results from Ruxolitinib Alone Peter Langmuir MD Group Vice President Oncology Targeted Therapeutics at Incyte discusses interim data of a phase [--] study assessing the combination of ruxolitinib and parsaclisib in patients with myelofibrosis. Myelofibrosis is a rare cancer characterized by extensive scarring in your 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 risk"
YouTube Link 2021-06-11T16:15Z [----] followers, [---] engagements

"Chapter 8: Gene Therapy Discussion and Q&A Alan Beggs PhD Director of the Manton Center for Orphan Disease Research Sir Edwin and Lady Manton Professor of Pediatrics Boston Children's Hospital Harvard Medical School Boston MA USA Julie A. Parsons MD Haberfield Endowed Chair in Pediatric Neuromuscular Disorders Professor of Clinical Pediatrics and Neurology University of Colorado School of Medicine Children's Hospital Colorado Aurora CO USA The ASPIRO Clinical Trial is on clinical hold since September [----]. In this part Doctors Beggs and Parsons will discuss key issues on gene therapy"
YouTube Link 2025-12-22T14:41Z [----] followers, [---] engagements

"SMA Patient Talks About His Diagnostic Journey Jim Willson a patient with spinal muscular atrophy (SMA) discusses his diagnostic journey as a person with SMA. Mr. Willson talks about what it was like growing up in the 70s when little was known about SMA and before he knew what he had. He also talks about what it has been like since his diagnosis as treatments have become available. Mr. Willson is currently in a clinical trial for risdiplam. SMA is a genetic disease that affects motor neurons in the spinal cord and control of muscle movement. It is caused by a mutation in the survival motor"
YouTube Link 2020-10-12T17:24Z [----] followers, [----] engagements

"Myasthenia Gravis Research Highlights: AAN [----] Jointly Provided by American Academy of CME and CheckRare CE. Supported by educational grants from argenx US Inc. and UCB Inc. To claim credit for this program please visit https://checkrare.com/learning/p-myasthenia-gravis-research-highlights-aan-2024/ Estimated time to complete: [---] hours Start date: June [--] [----] End date: June [------] Activity Description This accredited CME program highlights the latest clinical research about myasthenia gravis a rare autoimmune disease that targets the neuromuscular junction. Treatment of myastheniagravis is"
YouTube Link 2025-10-07T17:22Z [----] followers, [--] engagements

"Osteogenesis Imperfecta Overview Eric Crombez MD Chief Medical Officer of Ultragenyx explains his involvement in Ultragenyx and what osteogenesis imperfecta is. Transcription: Im Eric Crombez. I'm Chief Medical Officer at Ultragenyx. I'm a biochemical geneticist by training so I do have experience during my time at UCLA treating patients with Osteogenesis Imperfecta. Its really great to be part of the team bringing this new important treatment forward. Ultragenyx was founded and really continues to be focused on developing new treatments for rare genetic disorders. Our philosophy is really to"
YouTube Link 2024-01-29T19:57Z [----] followers, [---] engagements

"The cAMeLot-2 Trial Testing Bleximenib Combination Therapy for Acute Myeloid Leukemia Elias Jabbour MD MD Anderson Cancer Center at the University of Texas discusses the cAMeLot-2 study design of bleximenib combination therapy for patients with acute myeloid leukemia (AML). AML is a hematologic malignancy. Early signs and symptoms of AML vary but may include easy bruising bone pain or tenderness fatigue fever frequent nosebleeds bleeding from the gums shortness of breath and/or weight loss. AML is one of the most common types of leukemia among adults and is rarely diagnosed in people under"
YouTube Link 2025-12-15T17:11Z [----] followers, [--] engagements

"Ch 3: Mitigation Strategies to Address the Challenges in the Development of Gene Therapy Programs Alan Beggs PhD Director of the Manton Center for Orphan Disease Research Sir Edwin and Lady Manton Professor of Pediatrics Boston Children's Hospital Harvard Medical School Boston MA USA The challenges that you've heard about are real. Some of them I think we could have foreseen others. There was no way to know until we actually started treating patients in clinic. But we now know that there are immune responses and also responses just to the viral load. As Julie mentioned we're giving massive"
YouTube Link 2025-12-22T14:30Z [----] followers, [---] engagements

"Gene Therapy to Treat Duchenne Muscular Dystrophy Preliminary Clinical Trial Results Lisa Borland Vice President of Global Medical Affairs at Sarepta Therapeutics discusses the clinical development program evaluating the safety and efficacy of SRP-9001 an investigational gene transfer therapy for Duchenne muscular dystrophy. Data from this program supported the U.S. Food and Drug Administrations decision to accept and file a Biologics License Applications (BLA) for SRP-9001 which has a regulatory action date of May [--] [----]. Duchenne muscular dystrophy is the most common and most severe form"
YouTube Link 2025-10-07T16:47Z [----] followers, [--] engagements

"Expanded Applications of AI in Lysosomal Disorders Oral Alpan MD Immunologist Amerimmune Virginia USA; Svenja Keller PhD student University of Zurich Switzerland; Shoshana Revel-Vilk MD PhD Director Gaucher Unit & Pediatric Hematology/Oncology Unit Shaare Zedek Medical Center Jerusalem Israel; Patrick Deegan MD Consultant Metabolic Physician University of Cambridge UK; and Ravi Kamath MD PhD Head of Musculoskeletal Radiology Inova Health System Virginia USA discuss the applications of AI in the diagnosis and treatment of lysosomal disorders. This continuing education activity is provided"
YouTube Link 2025-12-31T18:50Z [----] followers, [---] engagements

"Long-Term Efficacy of Maralixibat to Treat Alagille Syndrome Pamela Vig PhD Chief Scientific Officer Mirum Pharmaceuticals gives a detailed overview of Alagille syndrome and the recent presentations at The Liver Meeting [----] highlighting the efficacy maralixibat to treat this rare disorder. As Dr. Vig explains Alagille syndrome is an inherited disorder that can affect the liver heart skeleton eyes and kidneys. Liver damage caused by cholestasis is a major feature of the disease. Bile ducts may be narrow malformed or fewer in number. As a result bile builds up in the liver and causes scarring."
YouTube Link 2021-11-30T11:46Z [----] followers, [----] engagements

"How the Approval of Maralixibat Impacted Alagille Syndrome Management Pam Vig PhD Head of Research & Development at Mirum Pharmaceuticals discusses how the approval of maralixibat has changed the management of Alagille syndrome. Alagille syndrome is a genetic disorder that can affect the liver heart skeleton eyes and kidneys. Liver damage caused by cholestasis is a major feature of the disease. Bile ducts may be narrow malformed or fewer in number. As a result bile builds up in the liver and causes scarring. Signs and symptoms may include jaundice poor weight gain and growth and severe"
YouTube Link 2022-10-17T10:08Z [----] followers, [---] engagements

"Primary Haemophagocytic Lymphohistiocytosis: Overview and New Treatment Option Carol Satler MD Vice President of Medical Affairs in North America for Sobi discusses the ultra rare disease primary haemophagocytic lymphohistiocytosis (HLH) and a new FDA approved treatment Emapalumab. HLH is an often-fatal syndrome of hyperinflammation in which massive hyperproduction of interferon gamma (IFNy) is thought to drive immune system hyperactivation ultimately leading to organ failures. It is estimated that fewer than [---] cases of primary HLH are diagnosed each year in the US but this is believed to"
YouTube Link 2018-12-23T12:16Z [----] followers, [---] engagements

"PNH: Real-World Experience This accredited CME activity led by Satheesh Chonat MD Assistant Professor at Emory University School of Medicine and hematologist-oncologist at the Pediatric Hematology Aflac Cancer and Blood Disorders Center Childrens Healthcare of Atlanta highlights the latest real world data focused on paroxysmal nocturnal hemoglobinuria (PNH). Dr Chonat also provides expert analysis of the datas clinical relevance for members of the care team to help them manage patients with PNH they may encounter with this rare condition. PNH is a rare acquired blood disease characterized by"
YouTube Link 2025-10-06T16:17Z [----] followers, [--] engagements

"Diagnosing Alagille Syndrome Chris Peetz President and CEO of Mirum Pharmaceuticals discusses how patients with Alagille syndrome are typically diagnosed. Alagille syndrome is a genetic disorder that can affect the liver heart skeleton eyes and kidneys. Liver damage caused by cholestasis is a major feature of the disease. Bile ducts may be narrow malformed or fewer in number. As a result bile builds up in the liver and causes scarring. Signs and symptoms may include jaundice poor weight gain and growth and severe pruritus that generally presents in infancy or early childhood. Symptoms range"
YouTube Link 2021-12-23T12:54Z [----] followers, [----] engagements

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