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FSHD — Wagner

Eric Wagner (FSHD): The top panels show the amount of green fluorescence in cells when DUX4 is expressed normally, and the bottom panels demonstrate how the reporter will express green fluorescence when DUX4 expression is inhibited.
With Wagner’s reporter system, inhibition of DUX4 expression in cells can be monitored. The top panels show the amount of green fluorescence in cells when DUX4 is expressed normally, and the bottom panels demonstrate how the reporter will express green fluorescence when DUX4 expression is inhibited.
Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)

MDA awarded a research grant totaling $284,778 over a period of three years to Eric Wagner, an assistant professor in the department of biochemistry and molecular biology at the University of Texas Health Science Center in Houston. The funds will help support Wagner’s investigations into the role of the DUX4 gene in facioscapulohumeral muscular dystrophy (FSH, or FSHD).

Recent findings implicate the DUX4 gene as a likely causative factor in FSHD and a potential target for molecular therapies. It was found that in people with the disease the normally silent DUX4 gene is inappropriately activated, causing major problems in the muscles.

Wagner and colleagues have developed a reporter system that will monitor their ability to inhibit and study DUX4 expression in normal and FSHD-affected cells.

“The system allows us to design and test inhibitory agents that can antagonize Dux4 expression, which is thought to be the causative agent in FSHD,” Wagner said.

“The value of MDA research funding cannot be underestimated in bringing this research together,” Wagner said. “The recent and critical findings that demonstrated the importance of DUX4’s role in FSHD was funded by MDA, and is what encouraged my lab team to work on this problem.”

Funding for this MDA grant began August 1, 2011.

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