The Muscular Dystrophy Association (MDA) has awarded a research grant to scientists at the Boston Biomedical Research Institute (BBRI) to evaluate DUX4 as a therapeutic target for Facioscapulohumeral Muscular Dystrophy (FSHD), the most prevalent muscular dystrophy affecting children and adults. 

Dr. Charles Emerson, Director and Senior Scientist, will lead the multidisciplinary investigation in collaboration with Dr. Jeffrey Miller, Senior Scientist, and Dr. Peter Jones, Principal Scientist. 

"FSHD has a complex genetic and epigenetic etiology, which has impeded the understanding of its pathology and the development of targeted therapies," says Dr. Emerson. "This grant will enable us to investigate the molecular underpinnings of FSHD by studying DUX4-fl, a highly promising FSHD candidate disease gene, and its encoded DUX4 protein, which is thought to cause FSHD muscle disease."

 Preliminary studies of a large cohort of FSHD families with affected and unaffected family members, conducted by the BBRI Wellstone Cooperative Muscular Dystrophy Research Center for FSHD Research, confirm the importance of DUX4-fl as a factor in FSHD disease pathology; however, these studies identified a protective mechanism that controls the progression of FSHD muscle disease in some individuals by modulating DUX4-fl function and expression. The aim of the proposed research is to identify the underlying epigenetic and genetic mechanisms that modulate DUX4-fl-mediated muscle pathology through chromatin and DNA modification, using stem cells provided by the BBRI Wellstone Center, to identify DUX4-fl disease modifiers as therapeutic targets for the treatment of FSHD.

(A press release from the Muscular Dystrophy Association can be found at  http://mda.org/research/gaag/2012/fshd-emerson.html.)