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.

$13.6 Million in New MDA Grants Promote Understanding, Treatment of Neuromuscular Diseases

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.

CMT — Vera Fridman, M.D.

Vera Fridman, at Massachusetts General Hospital in Boston, was awarded an MDA clinical research training grant totaling $180,000 over a period of two years to the effects of Serine in people with a form of Charcot-Marie-Tooth (CMT) disease called hereditary sensory and autonomic neuropathy type 1 (HSAN1).

CMT — Ronald K. Liem, Ph.D.

Ronald Liem, professor of pathology and cell biology at Columbia University Medical Center in New York, N.Y., was awarded an MDA research grant totaling $318,264 over a period of three years to study the progression of disease in a mouse model of type 2E Charcot-Marie-Tooth (CMT) disease.

Spice for CMT1B? Curcumin Shows Benefit in Research Mice

Mice with a disorder resembling the type 1B form of Charcot-Marie-Tooth disease (CMT) benefited from treatment with either of two forms of oral curcumin, a component of the spice turmeric, according to researchers supported in part by MDA.

ALS, CMT — Martha Bhattacharya, Ph.D.

Martha Bhattacharya, a postdoctoral research scholar in developmental biology at Washington University School of Medicine in St. Louis, Mo., was awarded an MDA development grant totaling $180,000 over a period of three years to study how and why axons degenerate.

Axons are the long extensions of motor neurons (muscle-controlling nerve cells) that link up with muscles. Signals are sent down the axon to cause the muscle to contract. When an axon degenerates, it can no longer carry those signals, leading to weakness.

Paralympian with Mitochondrial Myopathy Swims in London

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.

MDA Commits $10.7 Million to Neuromuscular Disease Research

The Muscular Dystrophy Association has awarded 33 new grants totaling $10,684,481 to fund research projects focused on uncovering the causes of, and developing therapies for, neuromuscular disease.

MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Aug. 1.

CMT — Stephan Züchner, M.D.

Stephen Züchner, associate professor of human genetics and neurology at the University of Miami Miller School of Medicine in Florida, was awarded an MDA research grant totaling $390,000 over three years to identify genes responsible for Charcot-Marie-Tooth disease (CMT).

CMT/FA — Jeffrey Milbrandt, M.D., Ph.D.

MDA awarded a research grant totaling $357,366 over three years to Jeffrey Milbrandt, professor and head of the department of genetics, and professor of pathology & immunology, medicine and neurology at Washington University School of Medicine in St. Louis.

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