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Grant Marks Two Decades of NIH Support for Muscular Dystrophy Research

Tuesday, February 26, 2019

Deposits of toxic RNA (red) are seen here inside muscle cell nuclei (blue) from an individual with myotonic dystrophy

The University of Rochester Medical Center (URMC) has received $8 million from the National Institutes of Health (NIH) to support pioneering research on muscular dystrophy. The grant, which is a renewal of URMC’s Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, will fund ongoing work to investigate the genetic mechanisms and progression of this complex multi-system disease, research that has led scientists to the threshold of potential new therapies for myotonic dystrophy.

“The mission of the URMC Wellstone Center is to promote research that leads to effective treatments for muscular dystrophy,” said Charles Thornton, M.D., a professor in the URMC Department of Neurology and director of the URMC Wellstone Center. “This new funding will enable us to continue a research program that has been forged from a true partnership between bench scientists, clinical researchers, and patients and their families.”

URMC is home to one of six NIH-designated Wellstone Centers in the nation. URMC was selected in the first cycle of funding when the program was launched 16 years ago and is the only Wellstone Center that has been continuously funded since the program’s inception. With the current award, URMC has received a total of $29.8 million in NIH funding to study the disease since 2003.

The URMC Wellstone Center focuses on myotonic dystrophy, a disease that can be lethal in infants and adults and is characterized by progressive disability. Researchers at URMC have been studying myotonic dystrophy for more than 30 years and their work has transformed our understanding of the biological mechanisms of the disease. The new funding will support a long-standing collaboration between researchers at the University of Rochester and RNA scientists at the University of Florida.

Approximately 40,000 Americans have myotonic dystrophy, which is one of the most common forms of muscular dystrophy. People with the disease have muscle weakness and prolonged muscle tensing (myotonia), which makes it difficult to relax muscles after use. Eventually many patients have difficulty walking, swallowing, and breathing.

Read More: Grant Marks Two Decades of NIH Support for Muscular Dystrophy Research