Muscular Dystrophies

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.

Efficient System Developed for DMD Newborn Screening

Update 5/21/12: A podcast on this topic is now available; see Podcast Explores Newborn Screening for DMD.

'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).

MDA Genetic Counseling Webinar Answers Key Questions

Respondents to MDA’s Transitions Survey — in other words, people with a neuromuscular disease who are in their teens through late 30s — made it clear they had questions about the genetics of their disease, as well as questions about family planning and the value of diagnostic testing.

MDA’s Genetic Counseling Webinar, which occurred Feb. 22, 2012, answers many of those questions.

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.

DMD: Eteplirsen Allows Production of Functional Dystrophin

Shortened versions of the muscle protein dystrophin— produced by skipping a section of genetic instructions called exon 51— appear to be functional, says a new report from the United Kingdom.

Podcast: Stephen Tapscott Discusses Role of DUX4 in FSHD

A protein called DUX4, inappropriately produced ("expressed") in skeletal muscle fibers, is emerging as a major factor in facioscapulohumeral muscular dystrophy (FSHD).

In FSHD-affected muscles, full-length DUX4 protein disrupts numerous biochemical pathways that normally would help muscle cells survive, mature and develop specialized roles.

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.

DUX4 Causes Muscle Mayhem in FSHD

Editor's note 2/2/12:This story was updated to reflect the availability of a podcast in which Stephen Tapscott is interviewed.

A little over a year ago, a team of researchers announced a crucial new finding that helped explain the molecular basis of facioscapulohumeral muscular dystrophy (FSHD).

MDA Funds Development of Utrophin 'Magnet' for DMD/BMD

 

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