Myotonic Muscular Dystrophy (MMD)

MMD Briefs: New Drug Development, Perceptions of Modafinil

Type 1 myotonic dystrophy (MMD1, or DM1) and type 2 myotonic dystrophy (MMD2, or DM2) are complex, multisystem disorders caused by similar genetic flaws on chromosome 19 (MMD1) and chromosome 3 (MMD2). Treatments that target the underlying molecular causes of MMD1 and MMD2 are in development.

MMD — Fernando Morales

Fernando Morales, head of the genetic section at the Health Research Institute of the University of Costa Rica, has received an MDA grant totaling $366,210 over three years. The funding will help support Morales’ research to define the molecular underpinnings of type 1 myotonic dystrophy (MMD1, or DM1) and factors that modify the course of this highly variable, multisystem disease.

MMD — Ju Chen

MDA awarded $330,000 to professor of medicine Ju Chen at the University of California, San Diego, for research into the role of a protein called Cypher in skeletal muscle function and disease.

MMD — Araya Puwanant, M.D.

MDA has awarded a clinical research training grant totaling $173,400 to Araya Puwanant at the University of Rochester (New York) Medical Center. The new funds will support completion of a two-year fellowship during which Puwanant will study the disease process in myotonic muscular dystrophy (MMD, or DM).

MMD — Mani Mahadevan, M.D.

MDA has awarded a research grant totaling $435,000 over three years to Mani Mahadevan, professor in the department of pathology, medical director of the molecular diagnostics lab and associate director of the cytogenics lab at the University of Virginia in Charlottesville. The new funds will help support Mahadevan’s study of the underlying molecular mechanisms in type 1 myotonic muscular dystrophy (MMD1, or DM1).

MMD — John Lueck, Ph.D.

MDA has awarded a research development grant totaling $180,000 over three years to John Lueck, a postdoctoral fellow at the University of Iowa Carver College of Medicine in Iowa City. The new funds will help support Lueck’s research into the mechanisms responsible for muscle weakness and degeneration in type 1 myotonic muscular dystrophy (MMD1, or DM1).

MMD - Ravel-Chapuis

Aymeric Ravel-Chapuis, a research scientist at the University of Ottawa, Canada, was awarded $179,850 to study the role of a protein called Staufen1 in type 1 myotonic muscular dystrophy (MMD1, or DM1).

MDA 2012 Conference Report: Best Practices

Several experts presented their views of "best practices" for care of people with neuromuscular disorders at MDA's 2012 Clinical Conference, held in Las Vegas March 4-7.

Many questions remain about optimal care in these disorders, but it's clear that attention to heart and respiratory function are of paramount importance.

This article looks at:

MDA 2012 Conference Report: Targeted Therapies

The progress of several experimental therapies currently in development for neuromuscular diseases was discussed at MDA's 2012 Clinical Conference, held in Las Vegas March 4-7.

MMD1: 'Invasive' Approach to Cardiac Management Improved Survival

New evidence suggests that relatively aggressive management of seemingly minor cardiac conduction defects in adults with type 1 myotonic dystrophy (MMD1, or DM1) can prolong survival.

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