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.

OPMD — Sarah Youssof, M.D.

Sarah Youssof, at the University of New Mexico Health Sciences Center in Albuquerque, was awarded an MDA clinical research training grant totaling $180,000 over a period of two years to study outcome measures in oculopharyngeal muscular dystrophy (OPMD).

Muscle Physiology — Masahiro Iwamoto, Ph.D., D.D.S.

Masahiro Iwamoto, research scientist at the Children’s Hospital of Philadelphia and associate professor of pediatric orthopedics at the University of Pennsylvania School of Medicine, was awarded an MDA research grant totaling $405,000 over a period of three years to study new ways to reduce muscle degeneration.

OPMD — Ayan Banerjee, Ph.D.

Ayan Banerjee, a postdoctoral researcher in biochemistry at Emory University in Atlanta, Ga., was awarded an MDA development grant totaling $180,000 over a period of three years to study the protein defects that cause oculopharyngeal muscular dystrophy (OPMD).

Why Does It Take So Long To Go from Mouse to Man?

John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human clinical trials. Why does it take so long?

Clinical Trials

About clinical trials

A clinical trial is a test in humans of an experimental medication or therapy. Clinical trials are experiments, not treatments, and participation requires careful consideration.

Although it's possible to benefit from participating in a clinical trial, it's also possible that no benefit — or even harm — may occur. Keep your MDA clinic doctor informed about any clinical trial participation. (Note that MDA has no ability to influence who is chosen to participate in a clinical trial.)

Research

In 1986, MDA-supported scientists identified the gene that, when defective, causes Duchenne muscular dystrophy. Since then, researchers have forged ahead to isolate and characterize genes involved in almost all the neuromuscular disorders in MDA’s program, including those responsible for oculopharyngeal muscular dystrophy (OPMD). These discoveries have enabled scientists to understand variations among different forms of the diseases and have helped doctors to provide more accurate diagnoses.

Causes/Inheritance

What causes OPMD?

The gene that’s defective in oculopharyngeal muscular dystrophy (OPMD) was discovered in 1998. It carries instructions for a polyadenylate binding protein (PABPN1) that’s normally present in the cell nucleus.

Researchers suspect that in OPMD, the presence of extra amino acids in the protein made from a defective PABPN1 gene causes the PABPN1 protein to clump together in the muscle cell nuclei, perhaps interfering with cell function.

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