Emery-Dreifuss Muscular Dystrophy (EDMD)

EDMD - Howard Worman, M.D.

Howard Worman, a professor of medicine, pathology and cell biology at Columbia University in New York, has been awarded an MDA research grant totaling $253,800 over three years to study genetically modified mice that lack two proteins — emerin and LAP1 — and develop a disorder mimicking the X-linked form of Emery-Dreifuss muscular dystrophy (EDMD). He will study disease progression in these mice and test a potential new treatment in them.

Funding for this MDA research grant began May 1, 2014.

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.

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.

‘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.

Muscle Physiology — Masahiro Iwamoto, Ph.D., D.D.S.

Masahiro Iwamoto, research scientist at the Children’s Hospital of Philadelphia and associate professor of pediatric orthopedics at the University of Pennsylvania School of Medicine, was awarded an MDA research grant totaling $405,000 over a period of three years to study new ways to reduce muscle degeneration.

MDA Commits $10.7 Million to Neuromuscular Disease Research

The Muscular Dystrophy Association has awarded 33 new grants totaling $10,684,481 to fund research projects focused on uncovering the causes of, and developing therapies for, neuromuscular disease.

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 Aug. 1.

EDMD — Mary Baylies, Ph.D.

Mary Baylies, professor in the program of developmental biology at Sloan-Kettering Institute, Memorial Sloan-Kettering Cancer Center in New York, was awarded an MDA research grant totaling $399,269 over three years to study LMNA gene mutations and the role of a protein called esconsin in Emery-Dreifuss muscular dystrophy (EDMD).

EDMD, LGMD1B: Two More Leads for Treating Cardiomyopathy

Update (Sept. 10, 2012): Information about the potential for serious side effects with temsirolimus and rapamycin was added to this article.

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