Myotonic Muscular Dystrophy (MMD)

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.

Podcast: Matthew Disney Discusses Drug Development for MMD

In type 1 myotonic dystrophy (MMD1, or DM1), expansions of DNA on chromosome 19 known as CTG repeats are converted to expansions in RNA called CUG repeats, which are toxic to nerve and muscles cells in a variety of ways.

Several MDA-supported research teams are targeting the toxic CUG repeats, with the goal of either blocking their interaction with other cellular substances or destroying them entirely.

'Gapmer Antisense' Targets MMD1 Defect for Destruction

Researchers at Baylor College of Medicine in Houston and Isis Pharmaceuticals in Carlsbad, Calif., have announced encouraging results for their antisense-based strategy in development for the treatment of type 1 myotonic muscular dystrophy (DM1, or MMD1).

MMD1: Synthetic 'H' Molecules Lock Up Toxic Repeats

Editor's note 3/15/12: This story was updated to reflect the availability of a podcast with Matthew Disney.

Small, laboratory-designed molecules can make a big difference in cells carrying the genetic defect that causes type 1 myotonic dystrophy (DM1, or MMD1), researchers have found.

MDA Commits $12 Million to Neuromuscular Disease Research

The Muscular Dystrophy Association has awarded 38 new grants totaling more than $12 million to fund research projects focused on its continuing mission to uncover the causes of, and develop therapies for, the more than 40 neuromuscular diseases in its program.

MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Feb. 1.

MMD - Laura Ranum, Ph.D.

MDA awarded a research grant totaling $415,092 over a period of three years to Laura Ranum, professor of molecular genetics and microbiology at the University of Florida in Gainesville.

The funds will help support Ranum's research into the role of a phenomenon called Repeat Associated Non-ATG translation (RAN translation) in myotonic dystrophy (MMD, or DM1).

MMD - Mani Mahadevan, M.D.

Mani Mahadevan, a professor at the University of Virginia in Charlottesville was awarded an MDA grant totaling $281,352 over a period of two years. The funds will help support Mahadevan's investigation into potential therapies for type 1 myotonic muscular dystrophy (MMD1, or DM1).