MDA awarded a research grant totaling $600,000 over a period of three years to Charles Emerson, director and senior scientist at Boston Biomedical Research Institute in Watertown, Mass. The funds will help support Emerson’s efforts to identify genetic modifiers of the DUX4 gene; such modifiers potentially could become therapeutic targets in facioscapulohumeral muscular dystrophy (FSH, or FSHD).

Evidence from recent studies suggests that the DUX4 gene (which carries instructions for the DUX4 protein) is the primary underlying molecular cause of FSHD. However, the mechanism by which DUX4 causes the disease remains unclear.

Preliminary studies conducted in Emerson’s lab, involving a large group of FSHD-affected families, have confirmed the importance of the DUX4 gene as a factor in the FSHD disease process. The studies also have identified an alternative disease mechanism in which family-specific genetic modifiers modulate DUX4 function and gene expression (production of the DUX4 protein), effectively enhancing or suppressing disease signs, symptoms and severity.

Emerson’s team plans to identify the underlying mechanisms that modulate DUX4 via studies in FSHD-affected families. Once identified, the DUX4 gene disease modifiers potentially may serve as therapeutic targets for treatment of FSHD.

Funding for this MDA grant began February 1, 2012.