Myotonic Muscular Dystrophy (MMD)

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.

‘Focused, Intense’ MDA Conference Advances Neuromuscular Disease Research

Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24.

A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in clinical trials for neuromuscular diseases, and the unique opportunity the conference provided for information-sharing and collaboration among scientific professionals from many disciplines.

MDA Scientific Conference To Emphasize Therapy Development

The Muscular Dystrophy Association’s annual conference being held in Washington, D.C., on April 21-24, 2013, is centered on the theme Therapy Development for Neuromuscular Diseases: Translating Hope into Promise.

New Guidelines on Genetic Testing in Children

As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.

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