MDA awarded a research grant totaling $317,464 over a period of three years to Scott Harper, an assistant professor of pediatrics at the Ohio State University College of Medicine in Columbus. The funds will help support Harper's work to develop a new mouse model of facioscapulohumeral muscular dystrophy (FSH, or FSHD).
"The root causes of FSHD have puzzled scientists and clinicians for decades, but some recent breakthroughs support the hypothesis that a gene called DUX4 is involved in the disease," Harper said. "Now that we have a gene target in DUX4, we can begin developing treatments that counteract that gene's toxic effects to muscle."
Harper noted that animal models of human diseases including FSHD are "important tools for testing therapeutics," but that "unfortunately, no such model exists for FSHD."
With colleagues, Harper plans to develop an FSHD research mouse model that contains DUX4 for use in the study of the disease, and the development and testing of potential therapies.
"I am hopeful that the FSHD field has turned a corner and that we have now entered a new era in which rational therapeutic strategies for FSHD are now possible," Harper said. "We believe this animal model will help in this effort."
Funding for this MDA grant began February 1, 2012.