Rare Disease Discussions

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 what constitutes a successful outcome in SMA care. Over the past decade, the management and treatment of...

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 challenge for parents and pediatricians, with clinical and social stigma implications that may be avoid...

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 2024 to better reflect its etiology. Central diabetes insipidus, a rare disease, is unrelated to the co...

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 https://checkrare.com/learning/p-systemic-mastocytosis-recognition-diagnosis-and-clinical-management/ SM is a rare, chronic disorder driven by aberrant mast cell accumulation across multiple...

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 critical importance of early identification.  Prader–Willi syndrome was first reported in 1956, and d...

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 condit...

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 Medical Center, Texas, USA; and Ryan Colburn, patient with Pompe disease and president of Odimm Inc, di...

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 Children’s Health, Delaware, USA; and Gregory Newby, PhD, Assistant Professor, Department of Genetic Medicine,...

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 Radiol...

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 collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, an...

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 nanotechnology in the treatment of lysosomal disorders. This continuing education activity is provided th...

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 through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), Ch...

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 Auro...

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 looking at SMA because we've had SMA. We've had onasemnogene around for the longest period of time. We wa...

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 p...

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...

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 use, it's really interesting. Yesterday, with our keynote speaker, you could see this logarithmic gro...

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...

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 Auro...

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 only. This podcast includes information about investigational compounds that do not yet have a regulatory...

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 4th through 7th, 2025, and is intended for healthcare professionals only. This podcast includes informati...

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...

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...

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 4th-7th 2025 and is intended for healthcare professionals only. This podcast includes information about inve...

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...