New Award Will Advance Muscular Dystrophy Research

 University of Rochester Medical Center (URMC) neurologist Charles Thornton, M.D. has received a Javits Neuroscience Investigator Award from the National Institutes of Health to further his research on muscular dystrophy.  The unique award provides “exceptional” researchers with seven years of uninterrupted funding. 

The Javits Neuroscience Investigator Award was created by the U.S. Congress in 1983 and is named in honor of former U.S. Senator Jacob Javits (NY), who was the victim of amyotrophic lateral sclerosis, a degenerative neurological disorder commonly known as Lou Gehrig’s disease.  The $2.3 million grant is administered by the National Institute of Neurological Disorders and Stroke and is given to scientists who have “demonstrated exceptional scientific excellence and productivity” in their field.

“Making progress on treating paralytic diseases is difficult and requires a dedicated team of clinicians and researchers,” said Thornton, the Saunders Family Distinguished Professor in Neuromuscular Research.  “To bring a team together and keep it together over the long run, you need a stable stream of financial support.   This award will help us continue our work through a very important stage when new therapies are being tested and others are on the horizon.”

Thornton’s field of research is myotonic dystrophy, a form of muscular dystrophy characterized by progressive muscle wasting and weakness.  Myotonic dystrophy is one of the more common genetic conditions that cause major disability and shortened life expectancy.  Over time, patients experience difficulty walking, swallowing, and breathing. The disease can also affect the eyes, the heart, and the brain. Currently there is no treatment to stop the progression of the disease.

Researchers in Rochester have been studying myotonic dystrophy for more than 25 years.  URMC researchers – which include Thornton and his colleagues Richard Moxley, M.D., Chad Heatwole, M.D., and Eric Logigian, M.D. – have created a national network of myotonic dystrophy patients, physicians, and scientists dedicated to developing new therapies.  The resulting research stretches from understanding the fundamental biological mechanisms of muscle and heart deterioration, studying how myotonic dystrophy affects the lives of people and families, how it evolves over time, and, most recently, whether drug treatments can stop the progression or improve the symptoms. 

In a study appearing in the journal Nature in 2012, Thornton and the team at URMC, partnering with researchers at Ionis Pharmaceuticals, showed that drug treatment can largely reverse the muscle problems in mice with myotonic dystrophy.  This approach is now being tested in patients.  

The Javits Award will help the URMC team refine the treatment and learn more about how to maximize its beneficial effects and minimize its risks. 

“While initial results in laboratory testing are promising, more work will be needed to optimize how this new treatment is used and find out whether it is helping people with the disease,” said Thornton.  “The work we will do in the laboratory will help guide how future clinical studies are run and will define whether these treatments serve to stabilize problems associated with the disease or actually improve symptoms that people are already experiencing.”