Quest Magazine

Gene Links Rare CMT, SMA Forms

Three teams of researchers in the United States and Europe have identified specific mutations in a chromosome-12 gene for the TRPV4 protein that tie together the origins of type 2C Charcot-Marie-Tooth disease (CMT2C) and two rare forms of spinal muscular atrophy (SMA).

Broadway Ticket Deals

Planning a trip to the Big Apple? Theater lovers who use wheelchairs, or who have trouble with steps, use a service dog or require aisle seating for medical reasons can get a hefty discount on orchestra seats to certain productions through the Theatre Development Fund, an organization dedicated to increasing access to theater for all audiences.

OPMD: Toxic Clumps Not the Only Cause?

 New findings strongly suggest that oculopharyngeal muscular dystrophy (OPMD) can't be explained solely on the basis of the formation of potentially toxic protein clumps in muscle cells. The loss of function of a protein known as PABPN1 appears to be a likely factor in this disease as well.

The findings may lead to new therapeutic strategies.

About the new findings

MDA Awards $21 Million for Research

In December 2009, MDA awarded $21 million in new research grants for neuromuscular disease research.

MDA's Scientific Advisory Committee (SAC) and Medical Advisory Committee (MAC) meet each fall and spring to review applications for research grants. Applications are scored on the basis of the capabilities of the applicant, the scientific merit of the project, and the proposal's relevance to developing treatments for the diseases in MDA's program. MDA's Board of Directors then reviews the recommendations of the MAC and SAC.

New Grant For LGMD2D Gene Therapy

Development of delivery of a therapeutic gene via the bloodstream to the thigh muscles in people with type 2D limb-girdle muscular dystrophy (LGMD2D) is proceeding on schedule, thanks in part to a new $458,814 grant from MDA to neurologist Jerry Mendell at Nationwide Children's Hospital in Columbus, Ohio.

MDA's Board of Directors approved the new funding, via the Association's translational research/MDA Venture Philanthropy program, on Dec. 4, 2009.

Exon-Skipping Drug Delivers Again

Interim results from a human clinical trial of the exon-skipping compound AVI4658 in boys with Duchenne muscular dystrophy (DMD) show that when the compound is delivered to the whole body via the bloodstream — rather than simply injected into a foot muscle as in a previous trial — it appears safe and leads to production of the missing muscle protein dystrophin.

New MDA Grant Will Help Develop FA Drug

Development of a promising experimental medication to treat Friedreich's ataxia (FA) is proceeding, with help from a $731,534 grant MDA awarded to Repligen Corp. of Waltham, Mass., this month (December 2009).

This is the second research grant that MDA has awarded to the small biopharmaceutical company, through the Association's translational (laboratory-to-clinic) research program.

Big Horses, Big Time

"Pa, I’m gettin' darn tired of goin’ down there and comin’ back with second place."

Robert Powell, 14, ordinarily is a young man of very few words. But when the subject is horse-pulling contests, it garners the full attention of this lad from Pleasuresville, Ky.

Internship Opportunities for College Students

Summer internships are available for college students with disabilities - but students must act quickly to apply.

Dec. 31, 2009 is the deadline to apply to the 2010 Emerging Leaders Summer Internship Program for College Students with Disabilities, a highly competitive program that places undergraduate and graduate students with disabilities in fulfilling summer internships and provides leadership development opportunities with many of America’s leading corporations.

ALS Research: Restoring Disrupted Connections

A molecule called microRNA 206, produced by muscle fibers after an injury to nerve cells, helps rebuild crucial nerve-muscle communications, say scientists at the University of Texas Southwestern Medical Center in Dallas and Harvard University. They say raising levels of microRNA 206 or amplifying its effects in some other way could become a new therapeutic avenue in amyotrophic lateral sclerosis (ALS).

They found that mice with an ALS-like disease fared worse without microRNA 206 than with it.