PODCAST · health
Rare Discussions
by CheckRare Editors
Conversations with the leaders advancing rare disease care. Rare Discussions is CheckRare's flagship interview podcast featuring conversations with leading physicians, researchers, patient advocates, and industry experts. These episodes explore advances in diagnosis, treatment, research, and patient care across the rare disease landscape. Whether highlighting groundbreaking therapies or sharing expert clinical perspectives, Rare Discussions highlights the experts who are shaping the future of rare disease medicine.
Episodes
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FDA Approves Gazyva for Idiopathic Nephrotic Syndrome, Offering a New Treatment Option
Keisha L. Gibson, MD, MPH, pediatric nephrologist at the UNC School of Medicine, discusses the approval of Gazyva (obinutuzumab) for patients with childhood-onset idiopathic nephrotic syndrome (INS). INS is a rare, autoimmune kidney disease that is often managed by corticosteroids and/or...
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New Stem Cell Method Could Advance Research Into Spinal Muscular Atrophy
Kyle Loh, PhD, Associate Professor at Stanford Medicine, discusses research that could help scientists better understand spinal muscular atrophy (SMA) by generating new motor neurons from human hindbrain cells in the laboratory. SMA is a genetic neuromuscular disorder characterized by the loss of...
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Revumenib + Chemotherapy in Newly Diagnosed AML With NPM1 Mutation: Phase 3 REVEAL-ND Study
My name is Dr. Joshua Zeidner, and I’m a Professor of Medicine and Chief of Leukemia Research at the University of North Carolina Lineberger Cancer Center. I’m here today to raise awareness around an active global, phase 3, double-blind trial evaluating a combination regimen for participants with…
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Taletrectinib for ROS1-Positive Non-Small Cell Lung Cancer
Jorge Nieva, MD, Associate Professor at the Keck School of Medicine, discusses new analyses from the TRUST studies evaluating taletrectinib in patients with ROS1-positive non-small cell lung cancer (NSCLC). ROS1-positive NSCLC is a rare molecular subtype of non-small cell lung cancer in which...
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Plasma Proteomics May Predict Disease Manifestations in ALS
Michael Benatar, MD, PhD, Department of Neurology and ALS Center, University of Miami Miller School of Medicine, discusses the use of plasma proteomics in predicting clinical manifestations of amyotrophic lateral sclerosis (ALS). ALS is a rare motor neuron disease characterized by problems with...
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Priority Review for Dersimelagon in the Treatment of EPP and XLP
Lukasz Jarzyna, Vice President of Rare Disease at LEO Pharma, discusses the Priority Review for dersimelagon in the treatment of erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP). EPP and XLP are rare congenital metabolic disorders characterized by an inborn error of...
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A Patient’s Journey With Essential Thrombocythemia and Polycythemia Vera
Nona Baker, Co-Chair of MPN Voice and patient, discusses her journey with essential thrombocythemia (ET) and polycythemia vera (PV), including diagnosis and treatment. ET is a condition characterized by an overproduction of platelets. Abnormal blood clotting is common in these patients and may...
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FDA CDER’s Accelerating Rare Disease Cures Program
Paz Vellanki, MD, PhD, Vice President of Clinical Development at Precision for Medicine, discusses the FDA CDER’s Accelerating Rare Disease Cures (ARC) Program. The ARC Program was launched in 2022 with the goal of accelerating the development of safe and effective therapies for patients with…
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Zilganersen for the Treatment of Alexander Disease
Amy Waldman, MD, pediatric neurologist and Medical Director of the Leukodystrophy Center at the Children’s Hospital of Philadelphia, discusses the approval of Zanvastro (zilganersen) to treat patients with Alexander disease. Alexander disease is a rare leukodystrophy that impairs neuronal...
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What to Expect: 2026 MGFA Scientific Session
Jenny McCue, Vice President of Global Research and Clinical Development at the Myasthenia Gravis Foundation of America (MGFA), discusses research highlights to be presented at the upcoming 2026 MGFA Scientific Session being held September 29th in Orlando, FL. Myasthenia gravis (MG) is a chronic...
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Topline Results From the SANRECO Trial Testing Divesiran in Polycythemia Vera
Marina Kremyanskaya, MD, PhD, Associate Professor at Icahn School of Medicine at Mount Sinai, discusses the phase 2 topline findings from the SANRECO clinical trial and the evolving polycythemia vera (PV) treatment landscape. PV is a condition characterized by an increased production of red blood...
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Results From the Voice of PBC Patient Survey
Carol Roberts, President of The PBCers Organization, discusses results from the Voice of PBC patient survey. PBC is a chronic, progressive autoimmune liver disease in which the bile ducts become inflamed and damaged. This leads to the buildup of bile and causes scarring, cirrhosis, and eventual...
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Approval of Imaavy (Nipocalimab) and its Impact on Patients With Warm Autoimmune Hemolytic Anemia
Karen A. Jones, EdD, President and CEO of wAIHA Warriors, discusses the approval of Imaavy (nipocalimab) and its impact on patients with warm autoimmune hemolytic anemia (wAIHA). wAIHA is a rare hematologic autoimmune condition characterized by antibodies that attack red blood cells and lead to...
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Spinal Muscular Atrophy: The Changing Definition of Success. An Expert Panel on the Evolution of SMA Care.
Spinal muscular atrophy (SMA) has undergone a remarkable transformation over the past decade. Drs. Nancy Kuntz, Alicia Henriquez, and Angela Lek discuss how advances in disease-modifying therapies have fundamentally changed the outlook for children living with SMA, leading clinicians to rethink...
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Growth Hormone Deficiency: Causes, Early Detection, and Treatment (Robert Rapaport, MD)
Robert Rapaport, MD, Professor of Pediatric Endocrinology, and Director of the Comprehensive Growth Center at the Icahn School of Medicine, Mount Sinai Medical Center, New York City, discusses the causes of growth hormone deficiency and its treatment. Growth failure in children is a considerable...
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Arginine Vasopressin Deficiency (AVP-D) Overview (Christopher Romero, MD)
Christopher Romero, MD, a pediatric endocrinologist at Mount Sinai Medical Center, New York City, and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai discusses arginine vasopressin deficiency. The name of the rare disease central diabetes insipidus was changed in...
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Systemic Mastocytosis: Recognition, Diagnosis, and Clinical Management
This accredited continuing education program is supported by an educational grant from Blueprint Medicine. It provides timely and practical education on systemic mastocytosis (SM). To obtain CME credit, visit...
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Prader-Willi Syndrome: Clinical Features and Early Identification
Merlin G. Butler, MD, Medical Geneticist and Professor, Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, and one of the pioneers in Prader–Willi syndrome research, discusses the clinical features of this very rare disease and the...
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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…
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Current Issues in Gene Therapies for Lysosomal Disorders
Shunji Tomatsu, MD, PhD, Professor and Head, Nemours Children’s Health, Delaware, USA; Alessandra d’Azzo, PhD, Emerita Faculty, Genetics, St. Jude Children’s Research Hospital, Tennessee, USA; Merve Emecen Sanli, MD, Associate Professor, Department of Pediatrics, University of Texas Southwestern...
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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...
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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…
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Organoids and Lab-Grown Models in Lysosomal Disorders
Mia Horowitz, PhD, Tel Aviv University; Aitor Aguirre, PhD, Michigan State University, Michigan, USA; and Ying Sun, PhD, University of Cincinnati, discuss the use of organoid models in lysosomal disorder research and drug development. This continuing education activity is provided through...
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Nanotechnology and Lysosomal Disorders
Stephan Stern, PhD, DABT, Director of Research and Development, Nanotechnology Characterization Lab (NCL), Frederick National Laboratory for Cancer Research, Maryland, USA; and Ruben Boado, PhD, Professor of Medicine, University of California at Los Angeles, California, USA, discuss the use of...
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AI in Medicine: Transforming the Landscape of Tissue-Based Diagnostics
Behzad Najafian, MD, Professor, Department of Laboratory Medicine & Pathology, Department of Medicine at the University of Washington, Washington, USA discusses the use of artificial intelligence in identifying and managing lysosomal disorders. This continuing education activity is provided…
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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...
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Chapter 7: Changes in Gene Therapy Programs to Lessons Learned from Recent Trials
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 How have programs adapted to the experiences from clinical trials? I'm just...
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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…
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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...
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Ch 4: Clinical Safety and Efficacy Observed in AAV Mediated Gene Therapy Programs in DMD, SMA, XLMTM
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 As we talk about the gene transfer therapies and the modalities that we have to...
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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.…
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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...
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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 2025 conference in Dallas, Texas, in March 2025, and is intended for healthcare professionals…
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Chapter 8: Gene Therapy Discussion and Q&A
Nicola Longo MD, PhD, and Mark Roberts, MD Drs. Longo and Roberts discussed 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 World Symposium 2025 in San Diego, California on February…
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Chapter 7: Ongoing Gene Therapies in Lysosomal Disorders
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...
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Chapter 6: Gene Replacement Therapy in Lysosomal Disorders
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...
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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 2025 in San Diego, California on February…
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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…
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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…
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Chapter 2: Vectors, Different Strategies, Modes of Administration, and Targets
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…
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Chapter 1: Lysosomal Disorders and the Potential for Gene Therapies
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...
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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 Patrício Aguiar Inborn...
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Consider Rare: Suspecting and Diagnosing CIDP
This accredited continuing education program is supported by an educational grant from Sanofi. Credit for the program can be obtained by visiting https://checkrare.com/learning/p-consider-rare-suspecting-and-diagnosing-cidp/ . This program, led by Jeffrey Allen, MD, Professor of Neurology at the...
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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…
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Case Studies in Diagnosing and Managing FOP
This program, led by Christiaan Scott, MD, Professor of Pediatric Rheumatology at the University of Ottawa and Raphaella Stander, MBCHB, Pediatrician at Atlantic Children’s Practice, focused on three case studies to provide physicians with education on best practices to: 1) suspect and diagnose...
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Immune Thrombocytopenia (ITP) Research Highlights: ISTH 2025
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...
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Immune Thrombotic Thrombocytopenic Purpura (iTTP) Research Highlights: ISTH 2025
The accredited CME program highlights the latest clinical research about iTTP, a rare thrombotic disorder. Led by Shruti Chaturvedi, MD, this activity provides a summary of clinically relevant data presented at the International Society of Thrombosis and Haemostatis Congress (ISTH 2025) that can...
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Hemophilia Research Highlights: ISTH 2025
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…
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Myasthenia Gravis Clinical Research Highlights: AAN 2025
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...
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Mastocytosis Control Test: Implications for Physicians
Warner Carr, MD, Allergist and Immunologist at the Allergy and Asthma Associates of Southern California, discusses the mastocytosis control test and its implications for physicians. Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education,...
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ABOUT THIS SHOW
Conversations with the leaders advancing rare disease care.
Rare Discussions is CheckRare's flagship interview podcast featuring conversations with leading physicians, researchers, patient advocates, and industry experts. These episodes explore advances in diagnosis, treatment, research, and patient care across the rare disease landscape.
Whether highlighting groundbreaking therapies or sharing expert clinical perspectives, Rare Discussions highlights the experts who are shaping the future of rare disease medicine.
HOSTED BY
CheckRare Editors
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Rare Discussions currently has 194 episodes available on PodParley. New episodes are automatically indexed when they're published to the podcast feed.
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Conversations with the leaders advancing rare disease care. Rare Discussions is CheckRare's flagship interview podcast featuring conversations with leading physicians, researchers, patient advocates, and industry experts. These episodes explore advances in diagnosis, treatment, research, and...
How often does Rare Discussions release new episodes?
Rare Discussions publishes regularly with 194 episodes available. Check the episode list for the typical release schedule.
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Rare Discussions is created and hosted by CheckRare Editors.
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