Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)

Scientists Find Cause of Type 2 FSHD

Update (Nov. 14, 2012): This story has been updated to reflect information about genetic testing.

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.

DUX4 Protein Not Unique to FSHD-Affected Muscles

Researchers supported in part by MDA have recently found evidence that production of the full-length version of a protein known as DUX4— previously associated exclusively with facioscapulohumeral muscular dystrophy (FSHD)— also can occur in people who don't have the disease.

FSHD — Joel Chamberlain, Ph.D.

Joel Chamberlain, research assistant professor in the department of medicine at the University of Washington in Seattle, was awarded an MDA research grant totaling $330,780 over three years to study a therapeutic approach called RNA interference (RNAi) for the treatment of facioscapulohumeral muscular dystrophy (FSHD).

Doctors Surprised By Which Symptoms Matter Most to Adults with MMD1, FSHD

Traditionally, outcome measures— the observations investigators make in a clinical trial to decide whether one treatment is better than another or better than a placebo — are determined by factors in a disease that are considered important by physicians and other professionals.

But in recent years, there has been increasing interest in finding out what matters most to people with the condition being studied.

FSHD — Rossella Tupler, M.D., Ph.D.

MDA awarded a research grant totaling $260,000 over two years to Rossella Tupler, research assistant professor in the program of molecular medicine at the University of Massachusetts Medical School in Worcester. The funds will help support Tupler’s search for the molecular cause of facioscapulohumeral muscular dystrophy (FSHD).

FSHD — Wagner

MDA awarded a research grant totaling $284,778 over a period of three years to Eric Wagner, an assistant professor in the department of biochemistry and molecular biology at the University of Texas Health Science Center in Houston. The funds will help support Wagner’s investigations into the role of the DUX4 gene in facioscapulohumeral muscular dystrophy (FSH, or FSHD).

FSHD — Rahimov

MDA has awarded a development grant totaling $180,000 over a period of three years to Fedik Rahimov, a postdoctoral research fellow at the program in genomics at Harvard Medical School and Children's Hospital Boston. The funds will help further elucidate the molecular mechanisms underlying facioscapulohumeral muscular dystrophy (FSH, or FSHD).

FSHD — Kyba

MDA awarded a research grant totaling $375,000 over three years to Michael Kyba, assistant professor in the Lillehei Heart Institute and department of pediatrics at the University of Minnesota in Minneapolis. The funds will help support Kyba's efforts to identify and test experimental therapies in facioscapulohumeral muscular dystrophy (FSH, or FSHD).

Decision Making About PGD Is Complex, Study Finds

Decision making about preimplantation genetic diagnosis (PGD) is a complex, multiphase process for couples, a new study has found. Understanding it, the investigators say, may be helpful to prospective parents who know they're at risk for transmitting a genetic disorder, and to the professionals who advise them.

Pages

MDA in Your Community