Myotonic Muscular Dystrophy (MMD)

MDA Awards $8.5 Million to 31 Neuromuscular Disease Research Projects

In its summer 2013 round of research grant awards, the Muscular Dystrophy Association aims to catalyze research progress in a dozen neuromuscular diseases, with an eye toward applying that knowledge to related muscle diseases, as well.

“A large number of our grants are investigating new therapeutic technologies,” notes Jane Larkindale, MDA's vice president of research. “These are 'platform' technologies, where successes can be transferred well beyond the specific disease in which they are developed and tested.”

MMD1: Abnormalities Found in PKM Enzyme

An abnormality in a muscle enzyme known as pyruvate kinase (PKM) has been added to the list of things that go wrong in type 1 myotonic muscular dystrophy (MMD1, or DM1), a new study has found.

MDA supported Thomas Cooper at Baylor College of Medicine in Houston on this study, which was published online in Proceedings of the National Academy of Sciences July 30, 2013.

MDA Study Reveals ‘Cost of Illness’ for ALS, DMD, MMD

"We now have numbers to point to," said Annie Kennedy, MDA's senior vice president of advocacy. "It's not just a back-of-the-envelope calculation anymore. It's real data."

MMD — Maurice Swanson, Ph.D.

Maurice Swanson, professor of molecular genetics and microbiology at the University of Florida College of Medicine in Gainesville, was awarded an MDA research grant totaling $300,000 over a period of three years to develop models to study sleep disturbance in types 1 and 2 myotonic muscular dystrophy (MMD1 and MMD2, also known as DM1 and DM2).

MMD — Michael Pape, Ph.D.

Michael Pape, president of Nymirum in Ann Arbor, Mich., was awarded an MDA research grant totaling $197,066 over a period of one year to develop drugs to treat type 1 myotonic muscular dystrophy (MMD1, also known as DM1).

Muscular Dystrophies — Lee Sweeney, Ph.D.

Lee Sweeney, director of the Penn Center for Orphan Disease Research and Therapy at the University of Pennsylvania Perelman School of Medicine in Philadelphia, was awarded an MDA research grant totaling $278,286 over a period of three years to test whether a new treatment that affects muscle calcium can slow the damage to muscle tissue in several forms of muscular dystrophy.

MMD — Nicholas Johnson, M.D.

Nicholas Johnson, assistant professor of neurology at the University of Utah in Salt Lake City, was awarded an MDA research grant totaling $375,000 over a period of three years to develop natural history data on congenital-onset type 1 myotonic muscular dystrophy (MMD1, also known as DM1).

MMD — Thomas Cooper, M.D.

Thomas Cooper, professor of pathology and immunology at Baylor College of Medicine in Houston, Texas, was awarded an MDA research grant totaling $300,000 over a period of three years to develop “antisense” therapy approaches to treat type 1 myotonic muscular dystrophy (MMD1, also known as DM1).

Turning Myotonic Dystrophy On and Off in Cells

MDA grantee Matthew Disney is a current and former MDA grantee at the Scripps Research Institute in Jupiter, Fla. Disney's current MDA grant is focused on targeting toxic RNA in type 2 myotonic dystrophy (MMD2, or DM2).

MD Briefs: Registries Are Still Open

FSHD, MMD: Registry remains open

The University of Rochester Medical Center in New York state would like to remind people with facioscapulohumeral muscular dystrophy (FSHD) or myotonic muscular dystrophy (MMD, or DM), and their families, about its registry to advance research in these two disorders.

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