Rochester Lands New Muscular Dystrophy Research Center

October 15, 2003

Richard Moxley III

            Largely because of its strong track record in innovative research and treatment for patients with muscular dystrophy, the University of Rochester Medical Center has been chosen as the home to one of three newly created muscular dystrophy cooperative research centers by the National Institutes of Health (NIH) and the Muscular Dystrophy Association (MDA).

            The designation brings with it up to $6.5 million in new funding – $5 million from NIH over the next five years, and $1.5 million from MDA during the next three years.

            “We feel very fortunate to have been chosen to take part in this endeavor,” says Richard Moxley III, M.D., a neurologist who is sought out by patients around the world who have muscular dystrophy. “This is really a new type of effort that brings researchers from around the country together to cooperate on research to prevent and treat muscular dystrophy. The decision to include us builds not only on our success in collaborative clinical research but also upon the remarkable generosity of the people in the Rochester community who have supported our research for years.”

            Moxley and his colleagues will work closely with their counterparts at two other centers at the University of Pittsburgh and the University of Washington in Seattle.

            Each center will perform research that will closely link research in the laboratory with the care of patients. Already Strong Memorial Hospital’s Neuromuscular Disease Center, which Moxley heads, is internationally recognized for the care of hundreds of patients and its research on diseases like muscular dystrophy.

            The new effort at Rochester will focus on the two types of muscular dystrophy most common in adults, myotonic and facioscapulohumeral muscular dystrophies, both of which are inherited. The diseases cause progressive weakness and degeneration of muscles, which shrink and sometimes literally disappear. In myotonic dystrophy, oftentimes the first symptom people notice is stiffness in their hands. Eventually the disease can cause heart problems and cataracts and can make walking, swallowing and even breathing difficult or impossible.

            In the past few years, Strong doctors have made several strides against the disease. They developed a mouse whose symptoms mimic those of patients with myotonic dystrophy. Then the team discovered the unique role of a molecular messenger, mRNA, in causing the disease. Last year, a team led by Charles Thornton, M.D., discovered precisely how a genetic defect – a type of “molecular stutter” where the same genetic sequence is repeated dozens or hundreds of times – causes certain symptoms that patients with the disease experience.

            In the new center the researchers will continue this pioneering work together with scientists at the University of Florida at Gainesville, in an effort to better understand and perhaps more effectively treat the disorder.

            In a second project, the investigators will take a detailed look at the genetics of facioscapulohumeral muscular dystrophy or FSHD. It’s been more than 10 years since the genetic defect that causes FSHD was discovered, but scientists still don’t understand exactly how it causes the disease. It’s the absence of a large section of a section of DNA whose purpose is unknown that causes a problem. A team led by Rabi Tawil, M.D., is among those who have pinpointed the aberrant gene, and recent findings point to the possibility that the body’s system of nurturing its muscles may be involved in the disease.

            Finally, doctors will launch a new project studying a potential new treatment for myotonic dystrophy. Moxley’s team will study an experimental insulin-like growth factor known as Somatokine, made by Insmed Inc., as a way to counter the muscle wasting that affects patients. The compound has looked promising as a way to boost bone strength in elderly women recovering from bone fractures, as well as improving blood sugar control in diabetics and improving muscle building after severe burns. The work builds on initial findings by Moxley more than 20 years ago, when he discovered a type of insulin resistance in myotonic dystrophy patients. The study will include 30 patients.

            The scientists will also study new ways of imaging muscle tissue, and they’ll establish a resource where cell lines, tissues and antibodies of interest can be shared with other doctors for research. That work complements an NIH-funded national registry of patients who have been diagnosed with myotonic dystrophy or FSHD that Moxley heads. Eventually doctors hope to gather information on 1,300 patients who have agreed to participate, as a resource for doctors to learn more about the diseases.

            “These centers bring together a critical combination of muscular dystrophy-related research that could lead to much faster therapy development. By augmenting the centers' NIH funding, MDA can help ensure that financial means are available for the centers to fulfill their potential,” says Sharon Hesterlee, director of research development at MDA.

            The new funding fits in well with the recent growth in research by scientists in the Department of Neurology. In the most recent survey by NIH, the department ranks third in the nation in NIH funding among medical school departments of neurology for efforts against neurological and neuromuscular disorders like muscular dystrophy, Alzheimer’s and Parkinson’s diseases.

            In addition to Moxley, Thornton and Tawil, the team includes Robert Dirksen, Ph.D.; Eric Logigian, M.D.; William Martens; Michael McDermott, Ph.D.; Nancy Merriman; Shree Pandya, M.S.; Stephen Welle, Ph.D., all of the University of Rochester; and Maurice Swanson, Ph.D., of the University of Florida at Gainesville.

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