News Release

Children's hospital neurologist receives Young Investigator Award in spinal muscular atrophy

Grant and Award Announcement

American Academy of Neurology

ST. PAUL, Minn. – Mustafa Sahin, MD, PhD, an instructor of neurology at Children's Hospital Boston, has been selected to receive the 2005 Young Investigator Award in spinal muscular atrophy (SMA). SMA is the leading genetic killer of infants and toddlers. Sahin will be honored during the American Academy of Neurology 57th Annual Meeting held April 9 – 16, 2005 in Miami Beach, Fla.

The Young Investigator Award provides researchers working in a mentored environment the support needed to initiate unique research projects that will provide invaluable information into the cause, treatment and potential cure for SMA. The award will provide Sahin with $85,000 each year for three years, plus an allowance for tuition and research expenses.

In a novel approach, the award also provides support for Sahin's mentor, Michael E. Greenberg, PhD, director of the Division of Neuroscience at Children's Hospital Boston and professor of neurology at Harvard Medical School. Greenberg will support Sahin's research by providing advice and guidance.

"I am grateful to the American Academy of Neurology Foundation and the Spinal Muscular Atrophy Foundation for giving me the opportunity to contribute to spinal muscular atrophy research," said Sahin. "Through this award, I will be able to focus my efforts on understanding the cellular and molecular basis of SMA disease."

Sahin's previous training and work has focused on the molecular mechanisms of axon guidance. His research will continue to examine the hypothesis that the protein SMN (produced by the SMN1 gene) may play a role in the transport or translational regulation of ribonucleic acids (RNA) necessary for axon growth or guidance in motor neurons. To evaluate this hypothesis, he will test whether SMN is required for proper growth of motor neuron axons into their target muscles in chick embryos. He will also identify the RNAs associated with the SMN complex in axons.

"Understanding the role of SMN protein in motor axons is a key to advancing new treatments for SMA," said Sahin. "In particular, identifying what RNAs are associated with SMN protein in axons may provide possible therapeutic targets for SMA in the future."

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Co-sponsored by the American Academy of Neurology Foundation, the Young Investigator Award is funded by a grant from the Spinal Muscular Atrophy Foundation. Spinal muscular atrophy is a genetic motor neuron disease caused by the progressive degeneration of nerve cells in the spinal cord and brainstem, leading to muscle weakness, respiratory complications and premature death. Over 50 percent of patients with SMA die before the age of two. The SMA Foundation estimates that there are currently 55,000 people suffering from SMA in the United States, Europe and Japan.

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 www.neurofoundation.org.

The SMA Foundation is a nonprofit organization founded in 2003 dedicated to finding a treatment or potential cure for spinal muscular atrophy (SMA). The Foundation provides funding for the full range of research from basic to clinical work conducted in academic laboratories as well as corporate therapeutics development. In addition, the Foundation is committed to raising awareness through education and increasing federal funding and support for the disease. For more information on the Spinal Muscular Atrophy Foundation, visit www.smafoundation.org or call (646) 253-7100.


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