Chicago, IL, July 14, 2017 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA), together with the American Academy of Neurology (AAN) and the American Brain Foundation (ABF), is pleased to announce the award of a clinical research training fellowship in muscular dystrophy to Johanna Hamel, M.D., a neurologist at the University of Rochester in New York, for her work in myotonic dystrophy (DM), the most common adult-onset form of muscular dystrophy.
The two-year fellowship, which began July 1, is the first of its kind to specifically focus on muscular dystrophy, and will provide a total of $130,000, including a $10,000-per-year stipend to support education and research-related costs, to support Hamel’s clinical research training and research on the molecular processes that drive DM. MDA support of the grant, with a contribution of $86,666, reflects its commitment to support and encourage investigators early in their medical careers to focus on clinical neuromuscular disease research.
Hamel’s goal is to determine the extent to which toxic RNA and dysfunction of proteins within the muscle cell nucleus relate to signs and symptoms of DM (RNA is the chemical step between DNA and protein manufacturing.) She will focus specifically on the relationship between the effects of toxic RNA and patients’ symptoms, and where there might be mismatches. For example, it’s generally thought that the longer the repeat, the more toxic the RNA, the bigger the problems. However, while in type 2 myotonic dystrophy (DM2) the repeat lengths are usually much longer than in the type 1 form of the disease (DM1) and there seems to be greater accumulation of toxic RNA, DM2 is a milder disease.
Understanding this discrepancy may shed light on other mechanisms involved in causing the disease.
“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,” said MDA Scientific Program Officer Lianna Orlando, Ph.D. “This research project has the potential to recalibrate our thinking about toxic RNA and disease pathogenesis, and we’re excited to see what Dr. Hamel will discover.”
Encouraging investigators, like Hamel, in the early stages of their careers to explore neuromuscular disease research is one focus of MDA’s vibrant research program, which works not only to fund a robust pipeline of research, but also a pipeline of the scientists whose work will lead to the breakthroughs needed to accelerate treatments and cures.
MDA grants targeted to talented, early-stage investigators, provide extra time spent in research or clinical training, making them more likely to receive additional grants to continue their practice. In fact, many such award recipients have gone on to receive additional research funding from MDA, as well as from the National Institutes of Health and other organizations. More importantly, awards such as the clinical research training fellowship ultimately are an investment in the future, as the secured salary and specialized experience they provide encourage young investigators to familiarize themselves with neuromuscular diseases and commit to working in the neuromuscular disease field.
“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.”
Hamel’s work also reflects MDA’s big-picture approach to research across diseases, where learnings in one disease field can inform discovery and lead to breakthroughs in other diseases.
“There are several other genetic diseases caused by toxic RNAs similar to myotonic dystrophy,” Hamel said. “Some of these diseases are within the field of neuromuscular medicine, while others primarily affect different organ systems. A better understanding about RNA toxicity will likely be of use in all these disorders.”
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 funding commitment of nearly $4 million.
About the Muscular Dystrophy Association
MDA is leading the fight to free individuals — and the families who love them — from the harm of muscular dystrophy, ALS and related muscle-debilitating diseases that take away physical strength, independence and life. We use our collective strength to help kids and adults live longer and grow stronger by finding research breakthroughs across diseases; caring for individuals from day one; and empowering families with services and support in hometowns across America. Learn how you can fund cures, find care and champion the cause at mda.org.
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