MDA awarded a research grant totaling $329,091 over two years to Kristen Nowak, an associate professor at the University of Western Australia in Perth, and the Western Australian Institute for Medical Research. The funds will support Nowak's study of diseases caused by defects in the skeletal muscle actin gene, which include "essentially any genetic neuromuscular disease that tends to be severe in some patients and mild in others." 

Nowak's team will concentrate on development of a therapy for people with skeletal muscle actin diseases, while also looking for genetic modifiers of disease severity.

Using a research mouse model with severely affected skeletal muscle, the researchers will search for modifying genes that activate cardiac (heart) actin, or any other gene able to rescue the mice through another mechanism.

"Identified genes will become the focus of future studies determining how to utilize them to formulate treatments," Nowak said.

Nowak acknowledged the importance of MDA funding in both previous and current work.

"Being able to continue this work with the current project is of utmost importance, not only for patients with skeletal muscle actin disease and their families, but hopefully for people with other neuromuscular diseases as well."

Funding for this MDA grant began August 1, 2011.