EDMD/LGMD/CMT — Yosef Gruenbaum, Ph.D.

MDA awarded a research grant totaling $300,009 over three years to Yosef Gruenbaum, professor and elected chairman at the Alexander Silberman Institute of Life Sciences, Hebrew University of Jerusalem, in Israel.

CMT — Bogdan Beirowski, M.D., Ph.D.

Postdoctoral research scholar Bogdan Beirowski, in the department of genetics at the Washington University School of Medicine in St. Louis, was awarded an MDA development grant totaling $180,000 over three years to study how defective Schwann cells lead to nerve-cell damage in Charcot-Marie-Tooth disease (CMT).

CMT — Nguyen

MDA has awarded a research grant totaling $420,000 over three years to Thien Nguyen, assistant professor in the department of neurology at Johns Hopkins University School of Medicine in Baltimore. The new funds will help support Nguyen’s research into the breakdown of peripheral nerves (nervous tissue that connects the spinal cord with muscles and sensory organs) in Charcot-Marie-Tooth disease (CMT).

CMT - Jordanova

MDA awarded a grant totaling $282,630 to Albena Jordanova, professor in the department of genetics at the University of Antwerp, Belgium, for research into the molecular causes of, and potential drug targets for, a recently discovered form of Charcot-Marie-Tooth (CMT) disease known as dominant intermediate CMT type C (DI-CMTC).

SMA Research Briefs: New Gene ID'd, Disease Modifier Explored

Below are highlights of two recent studies in spinal muscular atrophy (SMA), a disease in which the nerve cells (motor neurons) that control muscles in the spinal cord die, causing progressive weakness in the voluntary muscles.   

Decision Making About PGD Is Complex, Study Finds

Decision making about preimplantation genetic diagnosis (PGD) is a complex, multiphase process for couples, a new study has found. Understanding it, the investigators say, may be helpful to prospective parents who know they're at risk for transmitting a genetic disorder, and to the professionals who advise them.

Research Briefs: New Tools for CMT

Charcot-Marie-Tooth disease (CMT) is a peripheral nerve disorder that can be caused by mutations in more than 50 different genes. Recent research has resulted in several new tools that will help advance the work of researchers in this field.

MDA 2012 Conference Report: Best Practices

Several experts presented their views of "best practices" for care of people with neuromuscular disorders at MDA's 2012 Clinical Conference, held in Las Vegas March 4-7.

Many questions remain about optimal care in these disorders, but it's clear that attention to heart and respiratory function are of paramount importance.

This article looks at:

MDA 2012 Conference Report: Genetics and Immunology Update

More than 500 physicians, allied health care professionals and MDA staff attended the MDA's 2012 Clinical Conference in Las Vegas, March 4-7.

The program emphasized:

Untitled - Lisa Booth-Henry

Artist: 
Lisa Booth-Henry

Lisa graduated from the University of Southwestern Louisiana with a degree in education and teaches preschool children.

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