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yotonic dystrophy type 2 (DM2), a rare form of muscular dystrophy, can trace its origins to a meeting three decades ago in the Garvey Room on the fifth floor of Strong Memorial Hospital. Present at the regular gathering of neuromuscular researchers were Robert (Berch) Griggs, MD, and Richard Moxley, MD, two of the founding fathers of the University of Rochester Medical Center (URMC) Department of Neurology, and Charles Thornton, MD.
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As was a common practice, a patient with a puzzling case joined the group that day. This individual demonstrated the well-established clinical symptoms of myotonic dystrophy but did not possess the genetic flaw associated with the disease. The question put to those in the room was whether this case– one of a growing number identified via a new genetic test–was a completely new disease, a flaw with the test, or something else. “There was a vigorous debate and a wager that involved a six-pack of beer,” Griggs said. “But no one can recall who was on the winning side of the argument and whether beer ever changed hands.” In 1994, Griggs, Moxley, and Thornton published descriptions of three of these cases in the Annals of Neurology, thereby becoming the first to describe DM2. It was proposed at the time that the new disease be named for the trio, but they declined in recognition of other scientific teams around the globe that were arriving at the same conclusions, and the disease eventually came to be known as DM2. A growing wave The discovery of DM2 was the product of neuromuscular clinical and research programs first started in the 1970s by Moxley and Griggs. Later joined by Thornton, Rabi Tawil, MD, a leading authority on facioscapulohumeral dystrophy (FSHD), and David Herrmann, MD, an expert in inherited neuropathies, and others, the URMC neuromuscular team has been instrumental in creating the global research networks, partnerships with the patient community, pipeline of trained clinical researchers, and research tools necessary to study the disease and advance new treatments. One of the centerpieces of these efforts is the National Registry for Myotonic Dystrophy & Facioscapulohumeral Dystrophy, created in 2000 and supported by the NIH-funded
UNIVERSITY OF ROCHESTER | ERNEST J. DEL MONTE INSTITUTE FOR NEUROSCIENCE
