Michael Hauser, an associate professor in the Section of Medical Genetics, Department of Medicine at Duke University Medical Center in Durham, N.C., has been awarded an MDA grant totaling $383,856 over a period of three years. The funds will help support Hauser's efforts to identify mutations responsible for dominantly inherited (type 1) limb-girdle muscular dystrophy (LGMD). (Dominant inheritance means only one gene mutation, inherited from one parent, is sufficient to cause the disease. As a result, offspring of affected individuals have a 50 percent probability of inheriting the condition from their parents.)
Although a number of genes have been associated with various types of LGMD, others remain as yet unidentified. Hauser and colleagues plan to uncover additional mutations responsible for type 1 LGMD.
To do this, the investigators will examine DNA samples collected from 18 families affected by dominantly inherited LGMD. They plan to use a sophisticated technique called whole exome sequencing to probe the genetic blueprints of the affected individuals and compile a list of possible LGMD-causing mutations. Finally, the team will test the mutations in a zebra fish research model of LGMD in order to determine which of them interfere with muscle function.
"Zebra fish are perfect for this approach, because they incorporate the mutated proteins into their own muscles and can be analyzed in just a few days," Hauser said. "The combination of whole exome sequencing and functional testing in the zebra fish is extremely powerful, and we hope to identify several new causes of muscular dystrophy in this way."
MDA funding, Hauser said, has played an "extremely important" role in his career.
Funding for this MDA grant began February 1, 2011.