Celebrating Decades of Advances in Myotonic Dystrophy Research
On September 15, Strong Memorial Hospital lit up green 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.
Thornton and others made a significant breakthrough by demonstrating how a genetic defect associated with myotonic dystrophy leads to the accumulation of toxic RNA in cell nuclei, interfering with the normal function of numerous genes. In a 2012 Nature study, Thornton and his colleagues showed that a synthetic molecule called an antisense oligonucleotide could restore healthy protein functions in cells. Researchers are now exploring a similar approach using small interfering RNA to deliver genetic instructions to muscle cells. Several clinical trials testing new therapies for DM1 are underway worldwide and at URMC. The URMC myotonic dystrophy clinical research program, which includes trials, the National Registry, and clinical projects of the Wellstone Center, is led by Johanna Hamel, MD.
“Our families in Rochester celebrate Dr. Thornton, et. al. and their discovery of the antisense oligonucleotide. It is estimated that 8900 New Yorkers and their families are affected by myotonic dystrophy,” said Emily Jones, co-support group facilitator, Finger Lakes and Upstate NY, Myotonic Dystrophy Foundation. “In October, our son will participate in a clinical trial at URMC based on this critical research. We are so excited to participate in this life changing research and so grateful to have access to leading international researchers who give us hope for a life free of pain and this life-shortening disability.”
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