Spinal Muscular Atrophy (SMA)

Research Briefs: ALS, BMD, DMD, MMD, SMA, Muscle Regeneration

Amytrophic lateral sclerosis (ALS)

MDA Awards More Than $14 Million in Research Grants

MDA has awarded 38 new research grants totaling more than $14 million and covering more than a dozen neuromuscular diseases. 

MDA's Board of Directors met in Los Angeles July 16, where it reviewed and approved the new grants based on recommendations from the MDA Scientific and Medical Advisory Committees. Grants were scored and recommended for approval based on the capabilities of the applicant, the scientific merit of the project, and the proposal's relevance to developing treatments for the disease. The effective start date for all grants was July 1, 2010.

August is SMA Awareness Month

August is National Spinal Muscular Atrophy Awareness Month, and research in this disease has never been more promising.

Major themes in spinal muscular atrophy (SMA) research include increasing cellular production of the needed SMN protein; inserting new genes for the needed SMN protein; stabilizing shorter SMN protein molecules produced by people with SMA; and strengthening the nerve-muscle connections (neuromuscular junctions) that are weakened in this disease.

Here are some recent news stories about SMA from the MDA website.

Nonwalkers With SMA At High Risk for Weight Gain

Children and adults with types 2 and 3 spinal muscular atrophy (SMA) who are no longer walking have an increased risk of being overnourished and overweight if they otherwise have relatively good motor function, a multicenter study shows.

The results emphasize the importance of a "dedicated and experienced nutritionist" in SMA medical management, the researchers say.

About the study

Antisense Treatment Restores Full-Length SMN in SMA Mice

Scientists have found that mice with a disease resembling a mild form of spinal muscular atrophy (SMA) known as SMA type 3 showed more production of a needed protein in their spinal cords and more normal-looking ears and tails after treatment with a gene-modifying molecule that researchers hope could become a treatment for human SMA.

About the new findings

Disability Activist with SMA is a Globe Trotter

Life has been a whirlwind of activity for Victor Pineda lately.  The 31-year-old bachelor got married the first week in July.  He earns his Ph.D. in government planning around the first of August.

But these momentous events are almost insignificant compared to the rest of his typical schedule. In 2005 Pineda created the Victor Pineda Foundation (VPF) and today it commands most of his time.

Podcasts Focus on Latest Neuromuscular Research

Scientists at the Neuromuscular Disorders Program at Nationwide Children’s Hospital in Columbus, Ohio, are producing a series of podcasts examining current research in neuromuscular disease.

The series, “This Month in Muscular Dystrophy,” is an opportunity to hear authors of recent publications discuss how their work improves understanding of these diseases, and what it might mean for treatment.

SMN Gene Transfer Benefits Mice

A research group from the University of Sheffield in the United Kingdom has found that mice with a disease mimicking human spinal muscular atrophy (SMA) benefited significantly from intravenous transfer of the gene for the SMN (survival of motor neurons) protein. The mice lived significantly longer than untreated mice of the same type.

SMA Research: Saving Shortened SMN Protein

A research team at the University of Pennsylvania in Philadelphia has characterized the mechanism responsible for rapid decay of the survival of motor neurons (SMN) protein that is encoded by the human SMN2 gene and which plays a key role in a variety of therapeutic strategies under development for spinal muscular atrophy (SMA)

Gene Therapy Rescues Mice with SMA

Scientists at four U.S. institutions have successfully used gene therapy to treat very young mice with a disease resembling severe spinal muscular atrophy (SMA).  Study results were published online Feb. 28, 2010, in the journal Nature Biotechnology.

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