HACKENSACK, N.J., April 20, 2015 /PRNewswire-USNewswire/ --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."
About Duchenne Muscular Dystrophy Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately one in every 3,500-5,000 live male births (about 20,000 new cases worldwide each year). Because the Duchenne gene is found on the X-chromosome, it primarily affects boys; however, it occurs across all races and cultures.
Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin. Because dystrophin is absent, the muscle cells undergo degeneration. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs. Young men with Duchenne typically live into their late twenties.
Duchenne can be passed from parent to child, but approximately 35 percent of cases occur because of a random spontaneous mutation. In other words, it can affect anyone. Although there are medical treatments that may help slow its progression, there is currently no cure for Duchenne.
About Parent Project Muscular Dystrophy Duchenne is a fatal genetic disorder that slowly robs young men of their muscle strength. Parent Project Muscular Dystrophy (PPMD) is the largest most comprehensive nonprofit organization in the United States focused on finding a cure for Duchenne muscular dystrophy—our mission is to end Duchenne.
We invest deeply in treatments for this generation of young men affected by Duchenne and in research that will benefit future generations. We advocate in Washington, DC, and have secured hundreds of millions of dollars in funding. We demand optimal care, and we strengthen, unite and educate the global Duchenne community.
Everything we do—and everything we have done since our founding in 1994—helps boys with Duchenne live longer, stronger lives. We will not rest until every young man has a treatment to end Duchenne. Go to www.ParentProjectMD.org for more information or to learn how you can support our efforts and help families affected by Duchenne.
About UW Medicine at University of Washington A part of University of Washington in Seattle, UW Medicine's mission is to improve the health of the public by advancing medical knowledge, providing patient care, and training the next generation of health professionals and medical scientists. UW Medicine includes Harborview Medical Center, Northwest Hospital & Medical Center, Valley Medical Center, UW Medical Center, UW Neighborhood Clinics, UW Physicians, UW School of Medicine, and Airlift Northwest. A national and international leader in the biomedical sciences, the UW is first among public medical schools, and second overall, in the receipt of federal funding for research from the National Institutes of Health.