DMD/BMD — Emanuela Gussoni, Ph.D.

MDA has awarded a grant totaling $384,066 over three years to Emanuela Gussoni, an assistant professor in the division of genetics and program in genomics at Children's Hospital Boston and Harvard University. The grant will support Gussoni's studies to improve the efficacy of stem cell transplantation as a strategy to treat Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and possibly other forms of muscular dystrophy.

The direct injection of normal muscle stem cells into mice and people with muscular dystrophy has been attempted as a way to provide missing proteins to muscle tissue. (In DMD, the dystrophin protein is missing; in BMD, it's present but only partially functional.)

However, Gussoni said, studies have shown that, while the technique is safe in patients, their muscles have not shown significant improvement. One of the causes for the lack of improvement is the rapid death of the normal cells following transplantation.

To overcome this problem, different cell types more capable of surviving the transplant and producing the desired proteins must be identified. Gussoni's research team has found that human cells that produce a surface protein called MCAM can form muscle in tissue culture and following injection into animals.

If they live up to the preliminary expectations of Gussoni and her colleagues, MCAM-expressing cells could become candidates for cell transplantation to treat MD.

"MDA funding has been instrumental throughout my career," said Gussoni, who has received several MDA grants. "MDA develops and fosters both new and established investigators who are highly committed to improving the lives of people with muscle disorders."

Funding for this MDA grant began August 1, 2011.