Rare Disease Discussions
Peter Ciszewski, CheckRare
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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…
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…
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…
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…
Diagnosis and Management of Plasminogen Deficiency
Amol Sura, MD, Foster Center for Ocular Immunology, Dept of Ophthalmology, Duke University, Durham, North Carolina, discusses the diagnosis and management of plasminogen deficiency, a rare condition…
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…
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…
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…
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…
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…
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,…
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…
Chapter 8: Gene Therapy Discussion and Q&A
Alan Beggs, PhDDirector of the Manton Center for Orphan Disease ResearchSir Edwin and Lady Manton Professor of Pediatrics, Boston Children's HospitalHarvard Medical School, Boston, MA, USA Julie A.…
Chapter 7: Changes in Gene Therapy Programs to Lessons Learned from Recent Trials
Julie A. Parsons, MD Haberfield Endowed Chair in Pediatric Neuromuscular DisordersProfessor of Clinical Pediatrics and NeurologyUniversity of Colorado School of Medicine, Children's Hospital…
Chapter 6: Understanding and Preparing Risk Factors Associated With AAV Gene Therapies
Julie A. Parsons, MDHaberfield Endowed Chair in Pediatric Neuromuscular DisordersProfessor of Clinical Pediatrics and NeurologyUniversity of Colorado School of Medicine, Children's Hospital…
Chapter 5: Factors Impacting Safety and Efficacy of AAV Mediated Gene Therapies
Julie A. Parsons, MDHaberfield Endowed Chair in Pediatric Neuromuscular DisordersProfessor of Clinical Pediatrics and NeurologyUniversity of Colorado School of Medicine, Children's Hospital…
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 DisordersProfessor of Clinical Pediatrics and NeurologyUniversity of Colorado School of Medicine, Children's Hospital…
Ch 3: Mitigation Strategies to Address the Challenges in the Development of Gene Therapy Programs
Alan Beggs, PhDDirector of the Manton Center for Orphan Disease ResearchSir Edwin and Lady Manton Professor of Pediatrics, Boston Children's HospitalHarvard Medical School, Boston, MA, USAThe…
Chapter 2: AAV Mediated Gene Therapies
Alan Beggs, PhDDirector of the Manton Center for Orphan Disease ResearchSir Edwin and Lady Manton Professor of Pediatrics, Boston Children's HospitalHarvard Medical School, Boston, MA, USA Julie A.…
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…
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Rare Disease Discussions has published 191 episodes since May 2020, covering topics in Health & Fitness, Medicine.
Rare Disease Discussions is currently highly active with new episodes weekly. Average episode length is 21m.
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