Myotonic Muscular Dystrophy (MMD)

MMD/DM - Bernard Jasmin, Ph.D.

Bernard Jasmin, a professor in the Department of Cellular & Molecular Medicine at the University of Ottawa, has been awarded an MDA grant totaling $253,800 over three years to examine the role of a protein called staufen 1 in type 1 myotonic muscular dystrophy (MMD or DM) . In this disorder, staufen 1 interacts with abnormally expanded genetic material in muscle cells.

MMD/DM - Andrew Berglund, Ph.D.

Andrew Berglund, a professor of biochemistry, biophysics and molecular biology at the University of Oregon in Eugene, has been awarded an MDA research grant totaling $253,800 over three years to pursue changing the shape of the abnormal genetic material underlying type 1 and type 2 myotonic muscular dystrophy (MMD or DM).

MMD/DM - Steven Zimmerman, Ph.D.

Steven Zimmerman, a professor of chemistry at the University of Illinois at Urbana-Champaign, has been awarded an MDA research grant totaling $253,800 over three years to develop experimental drugs to treat type 1 myotonic muscular dystrophy (MMD).  Conducting experiments in cells and mice with an MMD-like disorder, Zimmerman and colleagues will test a new compound that keeps the MBNL1 protein away from genetic material called RNA.

MMD1: Antisense Drug Moves to Human Testing

Isis Pharmaceuticals Initiates Phase 1 Study of ISIS-DMPK Rx to Treat Myotonic Dystrophy Type 1

New Forms of Genetic Testing Improve Diagnosis, Raise Questions

“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

MMD2: Designer Compounds Free a Trapped Protein

Study Seeks Parents, Guardians of Young Children with Neuromuscular Disease

The National Institute of Nursing Research, part of the National Institutes of Health (NIH) in Bethesda, Md., is seeking parents or guardians of children from birth through age 5 with a neuromuscular disease for a study to develop a questionnaire about motor function in young children.

Companies to Develop Antisense Drug for Myotonic Dystrophy

 Biotechnology companies Isis Pharmaceuticals and Biogen Idec have entered into a multi-year collaboration to advance antisense technology for the treatment of neurological diseases — including type 1 myotonic dystrophy (MMD1, or DM1).

Study Probes Impact of Early-Onset MMD1

Communication difficulties, social role limitations, problems with mobility and walking, and cognitive impairment were the most frequently mentioned themes in open-ended interviews conducted with people affected by congenital-onset or childhood-onset type 1 myotonic muscular dystrophy (MMD1, or DM1) or their parents.