FOR IMMEDIATE RELEASE ON March 01, 2004
NINDS Researcher Receives Inaugural Award for Work in Spinal Muscular Atrophy
St. Paul, Minn. -
Charlotte J. Sumner, MD, a clinical fellow at the National Institute of Neurological Disorders and Stroke in Bethesda, Md., has been selected to receive one of the first Young Investigator Awards in Spinal Muscular Atrophy (SMA). The Young Investigator Awards support researchers working in a mentored environment toward the cause, treatment or cure of SMA, the leading genetic killer of infants and toddlers. Sumner declined the $85,000 per year monetary portion of the award in favor of a grant from NINDS, thus making funding available for another researcher. Sumner’s mentor is noted researcher Kenneth H. Fischbeck, MD. Fischbeck will provide advice and guidance to Sumner through the duration of her research. “It is a great honor to receive this award,” said Sumner, who works in the Neurogenetics Branch at NINDS. “The tremendous progress in understanding the genetics of SMA over the last eight years has led to the real possibility of developing therapy for this currently untreatable disease.” SMA is a progressive, debilitating and potentially fatal disease of the motor neurons caused by the absence of the survival motor neuron gene, or SMN1. SMA occurs in one in every 6,000 live births. The goal of Sumner’s research is to develop therapy for SMA by determining how the expression of the SMN2 – a back-up copy of the SMN1 gene – is controlled. “We hope to identify pharmacologic compounds that increase expression of the SMN2 gene,” said Sumner. “We hope that these compounds will result in increased SMN protein levels in patients and lead to reduced disease severity.” Sumner will be honored during the American Academy of Neurology 56th Annual Meeting in San Francisco, Calif., held April 24 – May 1, 2004. Co-sponsored by the American Academy of Neurology Foundation, the Young Investigator Award is funded by a grant from the Spinal Muscular Atrophy Foundation. The American Academy of Neurology Foundation works with the American Academy of Neurology to promote research in the neurosciences and to advance public understanding of the disorders of the brain and nervous system. For more information, visit its Web site at www.neurofoundation.org. The SMA Foundation works to accelerate progress toward a treatment or cure for SMA. It has pledged to invest at least $15 million dollars in research over the next three to five years, through the support of programs such as this Young Investigator Award. In addition, the Foundation is actively working to raise awareness about SMA among industry and government leaders. To find out more about SMA Foundation activities, visit the Web site at www.smafoundation.org.