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.

ALS, IBM — Eric Ross, Ph.D.

Eric Ross, associate professor of biochemistry and molecular biology at Colorado State University in Fort Collins, was awarded an MDA research grant totaling $363,000 over a period of three years to study proteins whose aggregation causes neurodegeneration.

ALS, IBM — Hong Joo Kim, Ph.D.

Hong Joo Kim, a postdoctoral fellow at St. Jude Children’s Research Hospital in Memphis, Tenn., was awarded an MDA development grant totaling $180,000 over a period of three years to study new genes for a newly recognized disorder called multisystem proteinopathy (MSP).

ALS, IBM — Benoit Coulombe, Ph.D.

Benoit Coulombe, director of the Proteomics and Gene Transcription Laboratory at the University of Montréal in Quebec, Canada, was awarded an MDA research grant totaling $377,067 over a period of three years to study the regulation of a protein whose gene, when mutated, can cause amyotrophic lateral sclerosis (ALS) and inclusion-body myositis (IBM).

Survey Open for People with IBM

A survey of people with inclusion-body myositis (IBM) is being conducted by A. David Paltiel, a professor of public health (health policy) and management at Yale University, with colleagues there and at the Myositis Association.

MD Briefs: Gene Therapy, Exon Skipping, Stem Cells

Below is a wrap-up of recent research news about the development of therapies for Duchenne, Becker and limb-girdle muscular dystrophies.

MD Briefs: Gene Therapy, Exon Skipping, Stem Cells

Update (Jan. 23, 2013):The "Building better utrophin" section was updated to reflect the availability of a Jan. 22, 2013, press release from the University of Missouri.

Below is a wrap-up of recent research news about the development of therapies for Duchenne, Becker and limb-girdle muscular dystrophies.

Living with Inclusion-Body Myositis

The first hint that I was exhibiting symptoms of a muscular disorder came to me in 1997, when I began having problems rising from a church pew. I realized that I could no longer rise simply by grasping the back of the pew in front of me and pulling myself up. I decided my muscle weakness was simply a result of insufficient activity and advancing age, and that the problem could be overcome by exercising more. I was 70 years old at the time.

IBM — Greenberg

MDA has awarded a grant totaling $444,314 over a period of three years to Steven Greenberg at Brigham and Women's Hospital and Harvard Medical School in Boston. The funds will help support Greenberg's study of the role of a protein called TDP43 in sporadic and hereditary inclusion-body myositis (IBM).

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