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).

Rock ‘N' Roll to Soothe the Soul

John DeGeorge, 50, of Los Angeles, works as an IT (information technology) compliance consultant to make a living, but he lives to play the drums.

“I think I was born with an interest in making music, or making noise,” he says. Being the son of a former drummer with the Glenn Miller Orchestra, such a passion for music must be in the genes.

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.

'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).

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