Emery-Dreifuss Muscular Dystrophy (EDMD)

‘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.

EDMD/LGMD/CMT — Yosef Gruenbaum, Ph.D.

MDA awarded a research grant totaling $300,009 over three years to Yosef Gruenbaum, professor and elected chairman at the Alexander Silberman Institute of Life Sciences, Hebrew University of Jerusalem, in Israel.

EDMD - Worman

MDA awarded a grant totaling $310,893 to Howard Worman, professor of medicine and pathology, and cell biology at Columbia University Medical Center in New York, for research into treatments that target the underlying cellular disease process responsible for heart damage, or "cardiomyopathy," in people with Emery-Dreifuss muscular dystrophy (EDMD).

EDMD - Shin

MDA awarded $180,000 to Ji-Yeon Shin, a research scientist at Columbia University Medical Center, New York, for continued study of the molecular mechanisms that underlie Emery-Dreifuss muscular dystrophy (EDMD).

"EDMD is an inherited disease of skeletal muscle and heart. Although diagnosis has been improved by the discovery of the most common genetic mutations that cause EDMD, we still have a poor understanding of how these mutations cause muscular dystrophy," Shin said.

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