Limb-Girdle Muscular Dystrophy (LGMD)

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.

Research Briefs: LGMD, Myofibrillar Myopathy

Update (Aug. 8, 2012):This story was updated to reflect the availability of a podcast on the dysferlin gene transfer study.

Zebrafish research models mimic myofibrillar myopathy

MD Briefs: Corrected Stem Cells, Membrane Sealants

LGMD2D mice benefit from corrected human stem cells

A multinational team of scientists successfully transplanted genetically corrected muscle stem cells derived from people with type 2D limb-girdle muscular dystrophy (LGMD2D) into LGMD2D research mice and saw better muscle function in these mice than in similar mice that didn't receive the cells.

LGMD — Peter Kang, M.D.

MDA has awarded a research grant totaling $299,722 over three years to Peter Kang, assistant professor of neurology at Harvard Medical School and director of the electromyography laboratory at Children’s Hospital Boston. The funds will help support Kang’s research into identification of gene mutations that can cause limb-girdle muscular dystrophy (LGMD).

LGMD — Richard Cripps

MDA awarded a grant totaling $339,561 to Richard Cripps, professor and chair of biology at the University of New Mexico in Albuquerque, for research into the role of the Trim32 gene in type 2H limb-girdle muscular dystrophy (LGMD).

The Trim32 gene carries instructions for the important Trim32 protein, required by muscle cells at the right times and in the necessary amounts for muscles to remain healthy and stable.

LGMD — Renzhi Han

Renzhi Han, assistant professor of physiology at Loyola University Medical Center in Maywood, Ill., received an MDA grant totaling $405,000 to study mutations in the dysferlin gene that lead to development of several types of muscle diseases known as "dysferlinopathies," including type 2B limb-girdle muscular dystrophy (LGMD).

LGMD/IBM — Alfred Goldberg, Ph.D.

Alfred Goldberg, professor or cell biology at Harvard Medical School in Boston, has received an MDA research grant totaling $410,777 over three years to continue research into the mechanisms underlying muscle atrophy, with particular relevance for limb-girdle muscular dystrophy (LGMD) and possibly inclusion-body myositis (IBM).

LGMD/DD — Jennifer Levy, Ph.D.

Jennifer Levy, a postdoctoral research fellow in the department of molecular physiology & biophysics at the University of Iowa Carver College of Medicine, has been awarded an MDA development grant totaling $180,000 over three years. (This type of grant reflects MDA's commitment to the career development of promising young researchers.) The funds will support Levy's research on repair of the muscle-fiber membrane.

Each muscle fiber is surrounded by a membrane that undergoes frequent rounds of damage and repair, assisted by a protein called dysferlin.

LGMD — Michael Hauser, Ph.D.

Michael Hauser, an associate professor in the Section of Medical Genetics, Department of Medicine at Duke University Medical Center in Durham, N.C., has been awarded an MDA grant totaling $383,856 over a period of three years. The funds will help support Hauser's efforts to identify mutations responsible for dominantly inherited (type 1) limb-girdle muscular dystrophy (LGMD). (Dominant inheritance means only one gene mutation, inherited from one parent, is sufficient to cause the disease.

Podcast: Howard Worman Discusses Research Related to Heart Disease in EDMD and LGMD1B

Recently, MDA grantee Howard Worman at Columbia University, and colleagues, published encouraging results about the effects of a drug called selumetinib on the hearts of mice with a genetic mutation that's found in a form of Emery-Dreifuss muscular dystrophy (EDMD)