MDA has awarded a research grant totaling $341,250 over three years to Jocelyn Laporte at the University of Strasbourg, France. The new funds will help support Laporte’s efforts to identify genes responsible for centronuclear/myotubular myopathies (CNM)/(MTM).

Laporte noted that his lab identified some of the first genes associated with these types of diseases in 1996, but that a number of other CNM-causing genes remain to be identified. Using a sophisticated technology called "high-throughput sequencing," also known as "massively parallel sequencing," Laporte and colleagues plan to uncover new genes associated with CNM.

The main challenge of this novel approach is the identification of the causative mutation among the many DNA variants that are not connected to the myopathy. It will require special effort to analyze the data.

Findings from Laporte’s work likely will facilitate diagnosis of CNM in individuals, improve genetic counseling services, and lend insight to better care and follow-up after diagnosis. In addition, the identification of causative genes will help inform scientists of the underlying disease mechanisms, help researchers determine eligibility for human clinical testing, and provide new targets at which to aim potential new therapies.

"MDA funding is a key factor for successful research on rare muscle diseases," Laporte said.

Funding for this MDA grant began February 1, 2011.