Limb-Girdle Muscular Dystrophy (LGMD)

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.

CMD, LGMD — Sebahattin Cirak, M.D.

Sebahattin Cirak, pending assistant professor at the Children’s National Medical Center in Washington, D.C., was awarded an MDA development grant totaling $180,000 over a period of three years to hunt for elusive genes that cause congenital muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD).

MD Briefs: Gene Therapy, Exon Skipping, Stem Cells

Update (Jan. 23, 2013):The "Building better utrophin" section was updated to reflect the availability of a Jan. 22, 2013, press release from the University of Missouri.

Below is a wrap-up of recent research news about the development of therapies for Duchenne, Becker and limb-girdle muscular dystrophies.

Friends and Heroes

Mallory has been drawing since she was very young and created this artwork at age 11. She is attending community college on a full scholarship.  Besides creating unique works of art, Mallory’s hobbies include knitting, music and computer games. She has six works in the Art Collection.

Study Recruiting People with LGMD2B or Miyoshi Myopathy

A new, multinational study of type 2B limb-girdle muscular dystrophy (LGMD2B) and Miyoshi myopathy— both of which result from mutations in the gene for the muscle protein dysferlin and are known as dysferlinopathies or dysferlin deficiency — is inviting people with either disorder to participate.

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.

LGMD — Melissa Spencer, Ph.D.

Melissa Spencer, professor of neurology at the David Geffen School of Medicine at University of California, Los Angeles, was awarded an MDA research grant totaling $390,000 over three years to study the role of an enzyme called calpain 3 in type 2A limb-girdle muscular dystrophy (LGMD2A).

With colleagues, Spencer has demonstrated that characteristics and disease processes of LGMD2A are different from those seen in other dystrophies.

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.

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