Friday Jul 28, 2023

#247 Duchenne Muscular Dystrophy: Exon Skipping

This week we are exploring Duchenne Muscular Dystrophy (DMD), a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. Joining us for this conversation is Dr. John Day, the director of the Neuromuscular Medicine Division at Stanford University and Carly Siskind, a board certified genetic counselor currently working with Dr. Day at Stanford. Shoutout to Sarepta for sponsoring this episode and introducing us to Carly Siskind and Dr. Day! 


We’re focusing on the background of DMD and exon skipping. In the near future we will continue our DMD conversation by diving into gene therapy including the newly FDA approved drug!


John Day, MD, PhD, is a professor of neurology and pediatrics and the director of the Division of Neuromuscular Medicine at Stanford University School of Medicine. After receiving a BA in Physics at Oberlin College, an MD at the University of Minnesota, and then a PhD in Neuroscience at Einstein College of Medicine, Dr. Day completed his clinical training in Neurology, Neuromuscular Medicine and Clinical Neurophysiology at the University of California, San Francisco.  He then became Professor of Neurology; Pediatrics; and Genetics, Cell Biology and Development at the University of Minnesota, where he also founded and directed the Paul and Sheila Wellstone Muscular Dystrophy Center.  Dr. Day has more than 35 years of experience in diagnosing and caring for patients with Duchenne Muscular Dystrophy (DMD) and related neuromuscular disorders, and in 2011, was recruited to Stanford University to establish a new comprehensive neuromuscular program.  At Stanford, Dr. Day and the neuromuscular team have been extensively involved in developing oligonucleotide treatments for DMD and Spinal Muscular Atrophy (SMA), as well as AAV Gene replacement for both disorders.  Going forward, the Stanford Neuromuscular program will build on the lessons learned in treating DMD and SMA to launch this new era of caring for patients with neuromuscular disorders.


Carly Siskind is a Board certified genetic counselor, working in the neurological disorders space  for almost 20 years. She received her BS in Biology, along with a teaching certificate, from the University of Michigan and her MS in genetic counseling from Northwestern University. She worked for a number of years in Detroit before following Dr. Day to Stanford in 2011 to work in the new comprehensive neuromuscular program. Carly is a Senior Genetic Counselor and Clinical Associate Professor at Stanford. She sees both adults and kids, and has been honored to be able to help people with neuromuscular disorders and watch treatments for these previously untreatable conditions come to fruition.


In this episode you will learn…

  • Background on DMD including symptoms, cause, the gene and more
  • How exon skipping works and how to determine patient amenability to exon skipping
  • About the years of post-approval studies to demonstrate the safety and efficacy of exon skipping genetic medicines
  • The critical role that genetic counselors can play in helping patients identify a potential therapy
  • The treatment option landscape for DMD has changed dramatically and now there are several precision genetic medicines (on the market or in development)!


For more information on how exon skipping works and to find resources like the exon map check out


Stay tuned for the next new episode of DNA Today on August 4th, 2023, where we’ll be discussing urea cycle disorders and specifically OTC deficiency New episodes are released every Friday. In the meantime, you can binge over 245 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  


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