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University of Utah researchers fight genetic killer of infants and toddlers
Date:6/17/2010

SALT LAKE CITY Researchers at the University of Utah are making strides in understanding and combating a motor neuron disease known as Spinal Muscular Atrophy. The spinal muscular atrophies are a group of inherited diseases that cause progressive degeneration of motor nerves resulting in muscle weakness. The most common form of the disorder, due to the deletion of a critical gene on chromosome 5, is currently the leading cause of inherited infant and child mortality. Spinal Muscular Atrophy (SMA) is the second-most common autosomal-recessive inherited disorder after cystic fibrosis. Approximately 1 in 40 carry the gene for this disease.

With the generous support of Families of Spinal Muscular Atrophy, researchers in the University of Utah Department of Neurology are making significant headway in the fight against the disease. Once very poorly understood, SMA is now considered one of the genetic conditions closest to finding an effective treatment.

Kathryn J. Swoboda, MD, leads the team of University of Utah researchers investigating the disease and is the Principal Investigator for Project Cure SMA. "Families of SMA made an early and astute commitment to the development of a clinical trials network that has paved the way to bring new therapies rapidly to the clinic. Now, as several novel therapies approach clinical trials, we are well prepared to prove or disprove their efficacy. Without the tremendous support of Families of SMA over the past seven years, we would be unable to tackle the challenges that this disease presents to us as physicians, parents and researchers. Families of SMA, from its modest beginnings more than 25 years ago, has served as a uniting force in the fight to improve the lives of every person affected by this disease."

Project Cure SMA is a clinical trials network of seven sites located in the United States and Canada, funded fully by Families of SMA. Their donations have included $2.75 million to the Univ
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Contact: Dennis Jolley
dennis.jolley@hsc.utah.edu
801-585-7777
University of Utah Health Sciences
Source:Eurekalert

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