MDA awarded a research grant totaling $375,000 over three years to Michael Kyba, assistant professor in the Lillehei Heart Institute and department of pediatrics at the University of Minnesota in Minneapolis. The funds will help support Kyba's efforts to identify and test experimental therapies in facioscapulohumeral muscular dystrophy (FSH, or FSHD).
The mutation associated with FSHD is a contracted (deleted) segment of DNA in a region of chromosome 4 called D4Z4. The D4Z4 region consists of a series of repeated DNA sequences. It is not yet fully understood how the contraction causes the disease, but scientists have found that it appears to modify the packaging of this part of chromosome 4 so that a gene named DUX4, which is encoded within each D4Z4 repeat, becomes active.
Kyba and colleagues are developing mice that carry the DUX4 gene. The team aims to identify and test drug- and genetic-based inhibitors of DUX4 in the mice, the most promising of which potentially may lead to experimental therapies for FSHD.
"This research project is directed at developing a treatment for FSHD," Kyba said. "As MDA is dedicated to curing muscular dystrophy, this is a natural partnership. Support from MDA is critical to our success."
Funding for this MDA grant began August 1, 2011.