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Celebrating Decades of Advances in Myotonic Dystrophy Research

Tuesday, September 17, 2024

On September 15, Strong Memorial Hospital lit up blue to commemorate Myotonic Dystrophy Awareness Day and the significant scientific progress achieved in Rochester and beyond over the past 30 years. These advancements have brought researchers closer than ever to developing treatments for this debilitating disease.

The recent renewal of a joint University of Rochester Medical Center (URMC) and University of Florida Paul D. Wellstone Muscular Dystrophy Cooperative Research Center will further strengthen these efforts. URMC, one of the original Wellstone Centers established in 2003, has been continuously funded by the National Institutes of Health to study myotonic dystrophy and facioscapulohumeral muscular dystrophy.

"The Wellstone Center program has been instrumental in our understanding of the molecular and physiological processes underlying the most common form of adult-onset muscular dystrophy, myotonic dystrophy," said Charles Thornton, MD, co-director of the Wellstone Center. "This knowledge has enabled us to develop promising treatments for this disease. The center's organization, which includes the National Registry for myotonic dystrophy, is built upon strong and longstanding collaborations between basic researchers at the University of Florida and clinical experts at the University of Rochester."

The new funding will support research in Rochester and Florida aimed at accelerating clinical research for novel gene therapies in myotonic dystrophy, type one (DM1), and prepare to translate these therapies into clinical practice, if approved. It is anticipated that modified versions of these therapies could also be effective for myotonic dystrophy, type two (DM2). To expedite clinical trials for DM2, researchers will expand their basic and clinical research efforts in this area.

Researchers at the University of Rochester Medical Center have been at the forefront of these advancements. Over three decades ago, Robert (Berch) Griggs, MD, Richard Moxley, MD, and Thornton were the first to describe myotonic dystrophy type 2. In collaboration with patients and families, the national registry has been an invaluable resource for understanding the natural history of the disease and conducting clinical research.