Duchenne and Becker muscular dystrophy
The Duchenne muscular dystrophy research group is a very large and active group, with drug development programs, pre-clinical mouse drug testing facilities, molecular diagnostics, clinical trials and trial networks, and Muscular Dystrophy Association clinics. There is also a large amount of molecular pathophysiology and more basic muscle biology research conducted by Department of Genomics and Precision Medicine faculty that is synergistic with the more translational and clinical research programs.
Drug development programs include exon skipping drug development (in collaboration with the iDESC network, as well as AVI Biopharma. Exon skipping research is supported by a NIH P50 Center of Research Translation (CORT), and NIH U54 Pediatric Pharmacology Center. The first for-profit spin-off of Children’s National Health System is focused on drug development for Duchenne muscular dystrophy (ReveraGen), and the lead VBP15 drug development program has received NIH TRND status, as well as MDA Venture Philanthropy funding.
The Cooperative International Neuromuscular Research Group (CINRG), is run out of ISB/CNMC, and is among the largest and most active clinical networks for conducting clinical trials and clinical research studies in Duchenne muscular dystrophy.
Innovations in molecular diagnostics have been a long-term interest of faculty members, including development of initial antibodies to dystrophin for muscle biopsy diagnostics, and newer mass spectrometry methods for dystrophin as a surrogate endpoint in clinical trials. A NIH RO1 on molecular diagnostics has been funded to Dr. Hoffman for over 2 decades, with the most recent emphasis on applications of nextgeneration sequencing to molecular diagnostics.
Pathophysiology of DMD is a major interest, with focus on explaining the age-related progression of DMD, and the differential involvement of specific muscle group. The ISB/GenMed faculty also collaborate extensively with investigators working on DMD worldwide, and provide technical and financial support to other laboratories through NIH funding to ISB faculty (e.g. National Center for Medical Rehabilitation Research, and others).