FAMED MUSCULAR DYSTROPHY RESEARCHER
GETS $200,000 FROM MDA

TUCSON, Ariz., Jan. 14, 2004 — Louis Kunkel, a molecular biologist and professor of pediatrics at Harvard Medical School in Boston, has received a $200,000 grant from the Muscular Dystrophy Association to continue research with the ultimate goal of finding an effective treatment for muscular dystrophy, the Association announced today.

Kunkel’s current research is focused on developing better diagnostic tests for muscular dystrophy and using stem cells as a treatment for this group of nine diseases.

“I hope that we’ll be able to begin human trials of cell-based therapy for muscular dystrophy soon,” he commented, upon receiving the additional funds.
Kunkel has received approximately $1.5 million from MDA since 1982.

In 1986, Kunkel’s Harvard-based team identified the gene that, when flawed, causes Duchenne muscular dystrophy, the most common childhood form of the disease, which leads to progressive muscle weakness and usually to death in the patient’s 20s. A somewhat less severe disease, Becker MD, is caused by different defects in the same gene.

The gene carries instructions for a muscle protein called “dystrophin,” which is usually entirely missing from its proper place in the muscle cell membrane in the more severe Duchenne MD. It’s usually partially present in Becker MD.

Without dystrophin, a muscle cell membrane is prone to stress-induced tearing.

The 1986 finding was a landmark in muscular dystrophy research and also a milestone for the then-new science of “reverse genetics,” in which a genetic flaw (mutation) is identified before its associated protein is known. Reverse genetics methods are common today, in part because of Kunkel’s work.

MDA is a voluntary health agency working to defeat more than 40 neuromuscular diseases, including the MDs, through programs of worldwide research, comprehensive services, and far-reaching professional and public health education.