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November 12, 2013
November 12, 2013
The Kurt+Peter Foundation has awarded a two-year grant to Elizabeth McNally, MD, PhD, professor of medicine and human genetics at the University of Chicago, to study a potential treatment for limb girdle muscular dystrophy, type 2C -- a rare but severe form of muscular dystrophy. Children with the disease are born missing a key muscle protein, gamma sarcoglycan, and lose significant muscle strength early in life.
The grant will help fund research on exon skipping, which allows a functioning protein to be made from a damaged gene by "skipping" over the defective region of the gene. Exon skipping has shown promise as a therapy for Duchenne Muscular Dystrophy, and the Kurt+Peter Foundation is supporting efforts by McNally's group to test whether exon skipping is a viable treatment strategy for limb girdle muscular dystrophy.
"We're excited because early data suggests that this really could be an approach that works for limb girdle muscular dystrophy type 2C," McNally said. "Although we have much more work to do, our results so far suggest that smaller units of the protein may work. This give us hope to take the next steps."
"We are very excited to be funding this research," said Scott Frewing, president of the Kurt+Peter Foundation. "This severe disease impacts children worldwide. We hope that this project will quickly lead to a compound suitable for the preclinical trial process. With that in mind, we have already created a registry for limb girdle muscular dystrophy type 2C patients. For many families, the opportunity to participate in clinical trials, no matter how preliminary, is our greatest hope."
About the Kurt+Peter Foundation
The Kurt+Peter Foundation is a non-profit that raises funds to apply current science to potential therapies for limb girdle muscular dystrophy, type 2C. The foundation's mission is to expedite a treatment or cure in time to help this generation of children who suffer from this disease. The charity was co-founded in 2010 by Charlotte Drew, M.D. and Scott Frewing, whose 7-year-old and 5-year-old sons, Kurt and Peter, have the disease. To learn more about the Kurt+Peter Foundation, visit http://www.kurtpeterfoundation.org.
About the McNally Laboratory at the University of Chicago
Dr. McNally's lab studies genes that affect heart and muscle function. McNally's pioneering research has led to a better understanding of the genes that play a role in the development of cardiomyopathy and muscular dystrophy. She was part of the team that first discovered the cause of LGMD 2C and she established the first model of LGMD.