Drug development and identifying new leads for possible drug development are in the news for five neuromuscular diseases in MDA’s program.

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.

The Muscular Dystrophy Association has awarded 44 new grants totaling $13.6 million to advance the understanding and treatment of neuromuscular diseases. The new grants, most of which took effect Feb. 1, encompass a range of diseases covered by MDA’s research program, and they support innovative approaches to basic research and new drug development.

In addition to addressing 16 specific neuromuscular diseases under MDA’s umbrella, the grants also fund research into muscular dystrophy in general, and research into muscle physiology related to neuromuscular disease.

Edison Pharmaceuticals has launched a phase 2b clinical trial of its experimental drug EPI-743 in adults with Friedreich's ataxia (FA) to assess whether the drug has positive effects on visual function, neurological and neuromuscular function, and disease-associated biomarkers.

Payton Mueller's parent knew something was amiss by the time he was 9 months old.

“As you all know, being the creative type that I am, I love do-it-yourself projects … However, I found myself in the middle of a rather unusual project, which involved a lot of creative ‘thinking outside of the box,’ and it was more than just a do-it-yourself. It was more of a ‘do it ourselves’ project. And we did it. Successfully. Here’s the story of how we helped Nick Dupree.”

Edison Pharmaceuticals has announced it is conducting a clinical trial of its experimental drug EPI-743 in children with the mitochondrial myopathyLeigh syndrome, and is planning a trial of this compound in Friedreich's ataxia (FA).

On a Thursday afternoon in July 2012, Michio Hirano, a professor of neurology, was in his office at Columbia University Medical Center, high above Manhattan’s upper west side.

As an energetic youngster in Menlo Park, Calif., Joe Wise’s favorite sports were baseball and football. Once he developed allergies and asthma, though, his mom, Marie, insisted that he add swimming to his athletic pursuits to improve his health.