Muscle Physiology — Harris

Samantha Harris, an associate professor in the department of neurobiology, physiology and behavior at the University of California, Davis, has been awarded an MDA grant totaling $244,024 over two years. The funding will help Harris in her quest to determine the properties of a skeletal-muscle protein called myosin binding protein C.

Mutations in the gene for myosin binding protein C affect muscle contraction and could play a role in a number of muscle diseases.

MD — Wagner

MDA has awarded a research grant totaling $362,760 over three years to Kathryn Wagner, an associate professor of neurology and neuroscience at the Johns Hopkins School of Medicine and director of the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute, both in Baltimore.

Research Briefs: BMD, DMD, Pompe disease

PTC begins non-US study of ataluren in DMD/BMD

MDA Hosts National Becker MD Conference in August

Update (Aug. 14, 2012): The Aug. 11 conference was attended by approximately 100 people with BMD and their families and friends, as well as some 40 clinicians and researchers. In addition, more than 70 individuals around the U.S. “attended” online. Videos of all presentations will be archived at Live Video Stream by early September 2012.

Stop Codon Read-Through Drug Performs Well in DMD Mice

An experimental drug called RTC13, designed to treat Duchenne muscular dystrophy (DMD) by restoring production of the muscle protein dystrophin, has shown promise in experiments in dystrophin-deficient mice that have a DMD-like disease.

RTC13's MDA-supported developers say they're optimistic about the compound but that refinement of its chemistry and further testing will be needed before it can be taken into clinical trials in people with DMD.

MDA Symposium Looks at Partnerships Between Industry and Academia

Enhancing collaboration and transfer of technology between academia and industry was the subject of MDA's recent Translational Research Symposium, one of a series of four MDA-sponsored research symposia scheduled in 2012.

The symposium was held June 27 in New Orleans, in conjunction with the 2012 New Directions in Biology and Disease of Skeletal Muscle Conference.

Stem Cell Briefs: Contributions of PAX7, S1P, MCAM

Update (July 10, 2012) — This story was updated to reflect the availability of a podcast with MDA research grantee Emanuela Gussoni, who discusses the development of stem-cell-based treatments for muscular dystrophies.

DMD: Phase 2 Trial of GSK Exon-Skipping Drug Opens in US

Update (Aug. 15, 2012): GlaxoSmithKline's exon-skipping drug GSK2402968 has been given a new generic name, "drisapersen."

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). 

MDA Urges Legislators to Speed Up Approval of Rare Disease Drugs

Update (July 10, 2012) —Reauthorization of the Prescription Drug User Fee Act (PDUFA) was signed by President Obama on July 9, 2012, complete with a provision that creates an accelerated approval pathway for drugs for rare diseases.

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