Co-Sponsored Clinical Research Training Fellowship Supports Research in Myotonic Dystrophy

MDA, together with the American Academy of Neurology (AAN) and the American Brain Foundation (ABF), announces the award of a clinical research training fellowship in muscular dystrophy sponsored by the three organizations to Johanna Hamel, M.D., a neurologist at the University of Rochester in New York, for her work in comparative studies of RNA toxicity in myotonic dystrophy (DM).

The two-year fellowship, which began July 1, will provide a total of $130,000, including a $10,000-per-year stipend for tuition, to support Hamel’s work to shed light on the molecular processes that drive DM. MDA support of the grant, with a contribution of $86,666, reflects MDA’s commitment to support and encourage investigators early in their medical careers who are focusing on clinical neuromuscular disease research.

A potential change in paradigm

It is thought that the genetic defect underlying DM causes a toxic RNA, which accumulates in the nucleus of the cell and causes protein dysfunction by trapping proteins important for normal cell function. (RNA is the chemical step between DNA and protein manufacturing.)

Hamel is working to determine the extent to which toxic RNA and dysfunction of proteins within the muscle cell nucleus relate to signs and symptoms of DM. For example, it is generally thought that the longer the repeat (the abnormally expanded section of DNA that causes DM), 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 typically a milder disease. Understanding this discrepancy may shed light on other mechanisms involved in causing the disease.

“We are pleased 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.”

Stocking the researcher pipeline

Encouraging investigators in the early stages of their careers to commit to the neuromuscular disease research field is one focus of MDA’s vibrant research program, which aims to fund not only 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.”

Informing research in other diseases

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.”

If successful, Hamel’s work could lead to a better understanding of how and to what extent the RNA is toxic for the cell which will, in turn, help to define treatment goals for drug development.

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.

Learn more about MDA Research Grants here