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Researchers at the University of Rochester Medical Center have found a way to block the genetic flaw at the heart of a common form of muscular dystrophy. The results of the study, which were published today in the journal Science, could pave the way for new therapies that essentially reverse the symptoms of the disease.

The researchers used a synthetic molecule to break up deposits of toxic genetic material and re-establish the cellular activity that is disrupted by the disease. Because scientists believe that potentially all of the symptoms of myotonic dystrophy – the most common form of muscular dystrophy in adults – flow from this single genetic flaw, neutralizing it could potentially restore muscle function in people with the disease.

This study establishes a proof of concept that could be followed to develop a successful treatment for myotonic dystrophy, said URMC neurologist Charles Thornton, M.D., the senior author of the study and co-director of the URMC Wellstone Muscular Dystrophy Cooperative Research Center. It also demonstrates the potential to reverse established symptoms of the disease after they have developed, as opposed to simply preventing them from getting worse.

Most days, neurologist Charles Thornton, M.D., spends some time away from his patients and heads for the laboratory, where he works with mice. It might seem an unlikely action for a doctor ultimately concerned with human health. But his forays in the laboratory have helped Thornton and his team develop a new kind of mouse that may someday help doctors around the world treat patients with myotonic dystrophy, the most common form of muscular dystrophy in adults.