Central Core Disease (CCD)

CCD - Montserrat Samso, Ph.D.

Montserrat Samso, assistant professor in the department of physiology at Virginia Commonwealth University in Richmond, was awarded an MDA research grant totaling $300,000 over three years to generate a crystal structure of the ryanodine receptor (RyR1), an intracellular calcium channel, at high resolution and in different conformational states, with and without disease-causing mutations, to allow a better understanding of its function and role in central core disease (CCD).

NIH Will Test Antioxidant Drug in Central Core Disease

The National Institute of Nursing Research (NINR) at the National Institutes of Health in Bethesda, Md., is conducting a study to determine if an antioxidant drug that has been approved by the U.S. Food and Drug Administration for other indications can reduce the severity of some symptoms in people with central core disease (CCD), a genetic disease caused by defects in a structure known as ryanodine receptor 1 (RYR1).

Drug Development for DMD: Fall 2014 Update-Part 2

Several experimental drugs are i development to treat Duchenne muscular dystrophy (DMD), a genetic disorder that results in a lack of the dystrophin protein in cardiac and skeletal muscle cells.

New Forms of Genetic Testing Improve Diagnosis, Raise Questions

“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

MDA Awards $8.5 Million to 31 Neuromuscular Disease Research Projects

In its summer 2013 round of research grant awards, the Muscular Dystrophy Association aims to catalyze research progress in a dozen neuromuscular diseases, with an eye toward applying that knowledge to related muscle diseases, as well.

“A large number of our grants are investigating new therapeutic technologies,” notes Jane Larkindale, MDA's vice president of research. “These are 'platform' technologies, where successes can be transferred well beyond the specific disease in which they are developed and tested.”

CCD — Julio Vergara, Ph.D.

Julio Vergara, professor of physiology at the University of California, Los Angeles, was awarded an MDA research grant totaling $300,000 over a period of three years to study the basis of central core disease (CCD).

CCD — Robert Dirksen, Ph.D.

Robert Dirksen, professor of pharmacology and physiology at the University of Rochester Medical Center in Rochester, N.Y., was awarded an MDA research grant totaling $300,000 over a period of three years to evaluate calcium transport as a target for central core disease (CCD).

CCD — Kurt Beam, Ph.D.

Kurt Beam, professor of physiology and biophysics at the University of Colorado at Denver, was awarded an MDA research grant totaling $300,000 over a period of three years to study two proteins that, when they malfunction, cause central core disease (CCD).

‘Focused, Intense’ MDA Conference Advances Neuromuscular Disease Research

Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24.

A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in clinical trials for neuromuscular diseases, and the unique opportunity the conference provided for information-sharing and collaboration among scientific professionals from many disciplines.

New Guidelines on Genetic Testing in Children

As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.

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