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Expert to Discuss Advances in Muscular Dystrophy Research

Monday, May 07, 2007

Neurologist Charles Thornton, M.D. will discuss recent advances in myotonic dystrophy research, the most common adult for of muscular dystrophy, as part of a lecture series highlighting biological and biomedical research at the University of Rochester.

Thornton will discuss his work at 4 p.m. Friday, May 11, in the Case Methods Room (Room 1-9576) at the Medical Center. It’s the latest installment of the “Second Friday Science Social” lecture series geared mainly to faculty, staff and students at the University, though the general public is welcome as well. The lectures are free. More information is available at

Thornton and his colleagues are responsible for much of the underlying research that has identified the unique genetic cause of the myotonic dystrophy, a degenerative neuromuscular condition that affects some 40,000 Americans. There is currently no effective treatment for the disease, which eventually leads to death by respiratory or cardiac failure.

Due in great part to Thornton’s work scientists now understand that myotonic dystrophy is caused by a genetically defective sequence of messenger RNA that “misbehaves” by fouling up certain regulatory functions in muscle and brain cells.  Normal messenger RNA transmits genetic information out of the nucleus and into the main part of the cell where instructions from the molecular blueprint get carried out.  In individuals with myotonic dystrophy, the faulty RNA accumulates in the cell’s nucleus and interferes with the development and function of other, normal messenger RNAs.  This process is responsible for the progressive muscle weakness and wasting and insulin resistance that are the hallmarks of the disease. 

Thornton is co-director of the Neuromuscular Disease Center, a leading center in the research and treatment of the several forms muscular dystrophy and other neurological disorders such as Lou Gehrig’s disease, Ataxias, and periodic paralysis.  The Center is also home to the National Registry of Mytonic Dystrophy, a database of thousands of individuals with the disease.

Thornton received his M.D. from the University of Iowa in 1981 and joined the University of Rochester Medical Center in 1989.

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