Facioscapulohumeral Muscular Dystrophy (FSH or 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 — Eric Wagner, Ph.D.

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 — Fedik Rahimov, Ph.D.

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 — Michael Kyba, Ph.D.

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.

'Turning Off the Switch' May Provide New FSHD Strategy

Researchers in Italy and Japan, supported in part by MDA, have identified what they believe is a molecular "switch" that may be inappropriately activating several genes in facioscapulohumeral muscular dystrophy (FSHD).

Neuromuscular Disease Research Discussed at 2012 AAN Meeting

Top scientists and clinicians from around the world are discussing the latest research in neuroscience, and the care of individuals with nerve and muscle diseases, at the 2012 annual meeting of the American Academy of Neurology in New Orleans, April 21-28.

MDA 2012 Conference Report: Best Practices

Several experts presented their views of "best practices" for care of people with neuromuscular disorders at MDA's 2012 Clinical Conference, held in Las Vegas March 4-7.

Many questions remain about optimal care in these disorders, but it's clear that attention to heart and respiratory function are of paramount importance.

This article looks at:

MDA 2012 Conference Report: Targeted Therapies

The progress of several experimental therapies currently in development for neuromuscular diseases was discussed at MDA's 2012 Clinical Conference, held in Las Vegas March 4-7.

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