Rare Discussions
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
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 spinal muscular atrophy...
The...
Central diabetes insipidus, a rare disease, is unrelated to the common medical problem diabete...
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 organ systems. ...
Prader–Willi syndrome was first reported in 1956, and deletions in...
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...
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,...
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 want to alway...
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 r...
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 th...
Ch 4: Clinical Safety and Efficacy Observed in AAV Mediated Gene Therapy Programs in DMD, SMA, XLMTM
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 growth of the ...
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 response...
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,...
This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a ...
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 information about investigatio...
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 ...
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 ...
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 investigational compounds...
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
...
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
R...
Popular Podcasts
Betrayal Weekly is back for a new season. Every Thursday, Betrayal Weekly shares first-hand accounts of broken trust, shocking deceptions, and the trail of destruction they leave behind. Hosted by Andrea Gunning, this weekly ongoing series digs into real-life stories of betrayal and the aftermath. From stories of double lives to dark discoveries, these are cautionary tales and accounts of resilience against all odds. From the producers of the critically acclaimed Betrayal series, Betrayal Weekly drops new episodes every Thursday. If you would like to share your story, you can reach out to the Betrayal Team by emailing them at betrayalpod@gmail.com and follow us on Instagram at @betrayalpod and @glasspodcasts. Please join our Substack for additional exclusive content, curated book recommendations, and community discussions. Sign up FREE by clicking this link Beyond Betrayal Substack. Join our community dedicated to truth, resilience, and healing. Your voice matters! Be a part of our Betrayal journey on Substack.
If you've ever wanted to know about champagne, satanism, the Stonewall Uprising, chaos theory, LSD, El Nino, true crime and Rosa Parks, then look no further. Josh and Chuck have you covered.
Current and classic episodes, featuring compelling true-crime mysteries, powerful documentaries and in-depth investigations. Follow now to get the latest episodes of Dateline NBC completely free, or subscribe to Dateline Premium for ad-free listening and exclusive bonus content: DatelinePremium.com
The Clay Travis and Buck Sexton Show. Clay Travis and Buck Sexton tackle the biggest stories in news, politics and current events with intelligence and humor. From the border crisis, to the madness of cancel culture and far-left missteps, Clay and Buck guide listeners through the latest headlines and hot topics with fun and entertaining conversations and opinions.
The official podcast of comedian Joe Rogan.