The Muscular Dystrophy Association (MDA) has awarded Dr. Johanna Hamel, a neurologist at New York’s University of Rochester, a $130,000 fellowship to help her research the underlying mechanisms that cause myotonic dystrophy — the most common form of adult-onset muscular dystrophy.
The American Academy of Neurology (AAN) and the American Brain Foundation (ABF) co-sponsored the two-year clinical research grant, which includes a $10,000 annual stipend for Hamel’s education and research-related costs.
In her statement, Hamel thanked her mentor, Dr. Charles Thornton, as well as “neuromuscular specialists, pathologists, and patients with neuromuscular diseases who have inspired me along the way.”
This two-year fellowship was granted bynd cosponsored bStarting in July 1, the fellowship includes a financial support valued $10,000-per-year for Dr. Hamel’s education and research-related costs.
Hamel hopes to evaluate to what extent toxic RNA molecules and dysfunctional proteins, which can be found in the center of command of cells, cause myotonic dystrophy. RNA is the in-between molecule from DNA to protein. It is believed that repetitions in a RNA sequence can transform it into a toxic form. The longer those repetitions are, the more toxic the RNA molecule will be, and the more damaging its effects.
“MDA, AAN and ABF are excited to be able to support Dr. Hamel’s work to advance our knowledge about the molecular processes that drive myotonic dystrophy,” Lianna Orlando, a scientific program officer at MDA — whose share of the total grant comes to $86,666 — said in a press release. “This research project has the potential to recalibrate our thinking about toxic RNA and disease pathogenesis disease development, and we’re excited to see what Dr. Hamel will discover.”
Type 2 myotonic dystrophy, a milder form of the disease, usually presents much longer RNA repeats than those observed in the Type 1, or more severe, form of the disease. Finding why this happens may improve understanding of the mechanisms that trigger these illnesses.
“I feel grateful and honored to receive this award,” Hamel said. “I am excited to help advance our knowledge of genetic disorders and am looking forward to working with patients and families with myotonic dystrophy.”
This research work may also shed light into other disorders caused by toxic RNA molecules.
MDA has funded more than $47 million in myotonic dystrophy research since 1950. Including a clinical research network grant announced in January 2017 to continue support of the Myotonic Dystrophy Clinical Research Network, three DM research grants announced in March, and the recent award to Hamel, MDA currently is funding 10 active DM grants with a total commitment of nearly $4 million.
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