Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne) awarded University of Washington a $148,000 grant to continue the functional analysis of spectrin-like repeats in dystrophin. Led by Stanley C. Froehner, PhD, Sackler professor and chair of the Department of Physiology & Biophysics at University of Washington, this grant will provide funding so that more research can be completed before the team submits to the National Institutes of Health (NIH) for additional resources.
Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood. The condition affects approximately one in every 3,500-5,000 live male births. Duchenne is caused by mutations in dystrophin, a key protein in muscle signaling pathways. The central region of dystrophin consists of a sequence repeated many times. Many mutations that cause Duchenne are located in this repeat region. Exon skipping and gene correction therapies require that some of the repeats be removed. There is new evidence that some repeats bind signaling proteins and are not dispensable, as previously thought. In this project, the team at University of Washington will determine how the loss of these repeats affects muscle health. This information will potentially help inform the design of exon skipping and gene replacement therapies.
"Exon skipping and gene replacement are leading candidate therapeutics in the Duchenne space right now," according to Dr. John Porter, PPMD's CEO. "It is our hope that Dr. Froehner's project will help improve decision making in the design and targeting of both exon skipping oligonucleotides and gene therapy vectors so that patients receive the best therapy possible and the chances of approvals in a timely manner are increased. PPMD has developed these bridge grants to serve as an emergency temporary funding source for projects that have lost funding or are between funding sources in order that key projects, personnel, or infrastructure may be preserved. Our investment in these projects has leveraged millions of dollars from NIH and other federal sources, and we believe strongly that Dr. Froehner's work will be another success story."
"I am very grateful to PPMD for providing funds at this critical time in our studies", says Dr. Froehner. "With the recognition that the spectrin repeats in dystrophin are not dispensable, it is important that we continue our research to understand the full function of the dystrophin complex."