In this episode of Quest Podcast, we chat with Sue Bruhn, PhD, CEO of the Charcot-Marie-Tooth Association (CMTA); Stephan Züchner, MD, PhD, Chief Genomics Officer at the University of Miami Miller School of Medicine; and Brian Lin, PhD, Senior Research Portfolio Director at the Muscular Dystrophy Association. Together, they break down what Charcot-Marie-Tooth disease (CMT) does to the peripheral nerves, why more than 100 different genes can cause it, and what separates a clinical diagnosis from a genetic one. They open up about the parts of living with CMT that research can overlook, from fatigue to the weight of seeing your own future in an older relative with CMT, and walk through the therapies now being tested, what the field has learned from trials that fell short, and how patients can get trial-ready today. Sue, Stephan, and Brian share their experiences, expertise, and genuine optimism about where CMT treatment is headed. Remember to register for the CMTA Patient & Research Summit, the association’s largest annual gathering of patients, families, researchers, and industry partners, taking place October 9–11 in San Francisco; you can register at https://give.cmtausa.org/event/cmta-patient-and-research-summit/e769535. TranscriptGuests:Sue Bruhn, PhD, has dedicated her career to patient-focused drug development for the treatment of rare diseases. She spent decades in biotech and has seen multiple products advance from research through clinical development and into the marketplace. She believes deeply in the power of patient communities and is proud to lead the CMTA, the largest philanthropic funder of CMT research and the provider of the most CMT patient services in the world. Sue is a scientist by training, with a degree in chemistry from Iowa State University and a PhD from MIT. Before joining CMTA, she held numerous executive leadership roles in pharmaceutical and biotech companies, including serving as CEO several times. She loves to travel, especially to visit her two adult sons. She lives in New Hampshire with her husband, Mike, and their dog, Brady. Connect with Sue: Facebook: https://www.facebook.com/CMTAssociation Instagram: https://www.instagram.com/cmtausa/ TikTok: https://www.tiktok.com/@cmtausa LinkedIn: https://www.linkedin.com/company/charcot-marie-tooth-association/ Dr. Stephan Züchner, M.D., Ph.D., is a Professor of Human Genetics and Neurology in the role of Chief Genomics Officer at the University of Miami Miller School of Medicine. He received his degrees from the University RWTH Aachen, Germany and an honorary doctoral degree from the Semmelweis Medical School in Budapest. His research interests are focused on identifying strong genetic variation associated with disease. His lab has been involved in identifying over 100 neuromuscular disease genes, such as the MFN2, SARM1, and SORD. More recently he has made significant contributions to repeat expansion disorders, helping to discover RFC1, FGF14, ABCD3 and other loci. His lab also works on basic mechanisms and the genome biology of short tandem repeat loci. To further enhance the ability to identify pathogenic variation, his team has recently developed machine learning and AI tools that have successfully supported disease gene identification. All this is directed towards the genomics-to-therapy concept, whereby progress in genomics will directly, and at times rapidly, lead to therapeutic options to be tested in clinical trials. He also leads the GENESIS genome database and has leadership and advisory roles ClinGen, UDN/UDN-Foundation, CMT Association, All of Us Research Project, and Muscular Dystrophy Association. Connect with Dr. Züchner: Twitter (X): https://x.com/szuchner https://www.tgp-foundation.org/ Brian Lin, PhD, serves as Senior Research Portfolio Director at the Muscular Dystrophy Association (MDA), where he oversees the organization’s research investments across the spectrum of neuromuscular diseases. He earned his Ph.D. from the University of Maryland, Baltimore, where he investigated disease mechanisms in Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). He later completed postdoctoral training at the U.S. Food and Drug Administration (FDA), focusing on the genetic engineering of protein therapeutics and gene therapy platforms. Leveraging his multidisciplinary background spanning neuroscience and regulatory science, he now guides MDA’s efforts to advance transformative research and accelerate the translation of innovative therapies from the bench to the clinic for the neuromuscular disease community. Host:Mindy Henderson is MDA's Vice President of Disability Outreach & Empowerment, Editor-in-Chief of Quest Media, and the host of this podcast. She was diagnosed with spinal muscular atrophy (SMA) type 2, when she was 15 months old and has been a life-long partner to MDA. Mindy is also a professional speaker and author of the book, The Truth About Things That Suck. Connect with Mindy: LinkedIn: https://www.linkedin.com/in/hendersonmindy/ Instagram: https://www.instagram.com/mindyhendersonspeaks/
