BOSTON -- Duchenne muscular dystrophy is the most common childhood form of muscular dystrophy. It affects boys almost exclusively, and those who have the disease often don't live past their 20s.

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At Children's Hospital Boston, Dr. Louis Kunkel and his team are working hard to find a cure for this and other neuromuscular diseases.

"We've made great strides in the understanding of neuromuscular disorders, in general, especially myotic dystrophy, SMA, Duchenne dystrophy, FSH dystrophy. We really understand now much of the underlying basis of these disorders, and we are now designing therapies for each of them," Kunkel said.

Kunkel's lab made news in the mid-80s when they identified dystrophin -- the gene responsible for duchenne dystrophy. In the years since the discovery of dystrophin, members of his laboratory have been responsible for the identification and characterization of more than 15 dystrophin-related genes and their protein products and have discovered that mutations in three of these genes cause limb-girdle muscular dystrophy.

"We've gone on and understood how dystrophin works in normal muscle and how it doesn't work in the disease state. And we've worked on ways of replacing dystrophin in diseased muscle. Our biggest emphasis, currently, has been on stem cell-based therapy," Kunkel said.

Kunkel's work has led to improved diagnosis of the muscular dystrophies, a new understanding of the common pathogenesis underlying these disorders and testable ideas on therapeutic intervention. The latter effort is now one of the main focuses of his lab.

"Muscles are regenerative tissue. All we have to do is take cells from a normal individual fuse them into existing muscle of a duchenne patient and we can corrective in a very local way," Kunkel said. "But what my lab has been working on is how to deliver those cells to multiple different muscles in within the whole human being. And we are getting much more successful in our mouse models."

In January, Kunkel was appointed chairman of MDA's scientific advisory committee, which reviews grant applications for basic science research.

"And I am also on their translational research committee as the chair of this committee to develop new ways of interacting as a private foundation with commercial entities. To get some of these drugs to market, it takes the wherewithal of a private firm, and the corporate world is the best place to do that. And MDA is recognizing that, has recognized that and is now supporting that kind of interactions with commercial firms," Kunkel said.