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October 1, 2003



National Institute of Child Health and Human Development Honors Dr. Stephen T. Warren for Genetics Discoveries

ATLANTA – The National Institute of Child Health and Human Development (NICHD) has selected Stephen T. Warren, PhD, chair and William P. Timmie professor of human genetics at Emory University School of Medicine, for its Hall of Honor, commemorating the Institute’s 40th anniversary. This new award recognizes scientists supported by the NICHD for their exceptional contributions to advancing knowledge and improving maternal and child health.

The 15 selected scientists were honored in a ceremony on the campus of the National Institutes of Health in Bethesda, Maryland. The scientists’ portraits and descriptions of their research contributions will be hung in the halls of the NICHD.

Dr. Warren was honored for his identification of Triplet Repeat Expansion as the cause of fragile X syndrome and as an entirely new inheritance mechanism of genetic disease. In 1991 Dr. Warren led an international research team that discovered the FMR1 gene, which is responsible for fragile X syndrome, the most frequent inherited form of mental retardation. In 1993 Dr. Warren’s team characterized FMRP, the protein expressed by the normal FMR1 gene, and learned that fragile X syndrome occurs when the FMR1 gene does not produce the FMRP protein. This results in the abnormal translation of other genes into proteins required for neuron interaction.

Most patients affected by fragile X syndrome share a common genetic mutation called triplet repeat expansion. All genes comprise combinations of four chemical bases (A, C, G, and T) used to translate genetic information to proteins. Within the normal FMR1 gene, the triple combination of CGG is repeated only about 30 times, but in persons affected by fragile X, the CGG combination is repeated more than 200 times. When this occurs, the gene stops producing the FMRP protein. This protein silencing leads to symptoms including mental retardation, attention deficit disorder and connective tissue disorder. This unique mutational mechanism, previously unknown in any species, was first uncovered with the discovery of FMR1 and later has been demonstrated as the mutational mechanism in over a dozen other genetic disorders, including Huntington Disease.

Emory University has the largest NIH-funded research program on fragile X syndrome in the world, and Emory School of Medicine scientists were among the first to develop genetic tests to diagnose the syndrome. Just within the past decade genetic counselors have been able to help carriers of FMR1 predict the probability of giving birth to a child affected by fragile X.

In the past few years Dr. Warren and his colleagues have demonstrated that the genetic mutation leading to fragile X syndrome goes well beyond the original protein expression of the gene and affects additional proteins that cause "downstream" cellular consequences that could negatively influence development and behavior. Thus far, no treatment has been available for fragile X syndrome, but the Emory scientists believe their new knowledge about the mechanisms of fragile X may soon enable the development of therapeutic approaches to regulate the gene expression and neural pathways involved.

"Dr. Warren is a shining example of a scientist who is translating outstanding laboratory research into diagnostic tests and therapies that have the potential of dramatically improving the lives of thousands of patients," said Thomas J. Lawley, MD, dean of Emory University School of Medicine. "We take great pride in his accomplishments, and look forward to the day when fragile X syndrome can be successfully prevented or treated."

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