MDA has awarded a development grant totaling $180,000 over a period of three years to Fedik Rahimov, a postdoctoral research fellow at the program in genomics at Harvard Medical School and Children's Hospital Boston. The funds will help further elucidate the molecular mechanisms underlying 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. Although it's not yet fully understood how the contraction causes the disease, it appears to be one of two factors necessary to cause abnormal activation of a gene called DUX4.

The protein produced from the DUX4 gene instructions is toxic to muscle cells, and causes muscle degeneration and weakness.

Fedik and colleagues plan to assess DUX4 activity in FSHD-affected muscles in an attempt to uncover the mechanisms underlying FSHD. It's hoped that understanding and defining these mechanisms may lead to the discovery of disease biomarkers.

"Funding from MDA will help us enormously as we continue our work on biomarker discovery using advanced technologies," Rahimov said. "Data generated from this study will be deposited into public repositories, and the discovery nature of our study will allow the generation of new hypotheses to test for new therapeutic targets."

Funding for this MDA grant began August 1, 2011.