Friday, November 10, 2023

Neurology/Neuroscience Research Seminar

12:00 PM to 1:00 PM

5515 BSRB

CME credit is available, click here

Attendance must be registered within 6 months of attendance to be awarded credit.

Recorded archives of live activities are considered enduring materials.

Viewing of a recorded session is for reference only, no CME credit can be claimed.

Join us

Neuromuscular medicine is undergoing a therapeutic renaissance as genetic medicines are entering the clinic, including for the most common form of adult-onset muscular dystrophy, myotonic dystrophy (DM). In DM, toxic RNA is produced by the mutant DMPK gene, and numerous therapeutic interventions to silence DMPK or overcome the effects of toxic RNA have been developed. Successful translation of these genetic medicines relies on minimizing off-target effects and understanding the risk of on-target effects. As a graduate student, Dr. Samuel Carrell investigated antisense oligonucleotide medicines designed to lower toxic DMPK transcripts. He showed that these medicines target mutant and normal DMPK equally in skeletal muscle, that knockdown leads to full decay of the toxic RNA fragment in mice, and that loss of wild-type DMPK is tolerated. As a post-doctoral fellow, Dr. Samuel Carrell has developed a disease-responsive gene therapy platform for DM and developed model systems to investigate the effects of toxic RNA reduction in congenital DM.

“Gene Therapy for Myotonic Dystrophy: Challenges for Translation”

Samuel T. Carrell, MD, PhD