Project Title: “Developing disease-responsive gene therapies for myotonic dystrophy”
Myotonic dystrophy (DM) is the most common muscular dystrophy in adults, affecting approximately 1 in 8000 individuals worldwide. Currently, there are no effective disease-modifying therapies for DM. However, there has been promising recent research using adeno-associated virus (AAV) to deliver therapies that modify the genes that cause neuromuscular diseases. AAVs are small DNA viruses that have no known role in human disease.
Dr. Carrell’s research will develop a disease-responsive mini-gene to precisely control the therapies delivered by AAVs. This mini-gene will prevent the side effects that have made previous gene modifying therapies ineffective in treating myotonic dystrophy.
Dr. Carrell is a resident in neurology at the University of Pennsylvania.
This research is funded by the Muscular Dystrophy Association through the American Brain Foundation, in collaboration with the American Academy of Neurology.