University of Virginia Health System

MARCH OF DIMES FUNDS TWO GENETICS STUDIES AT U.VA.

Two researchers at the University of Virginia Health System are this year's sole Virginia recipients of grants from the March of Dimes Birth Defects Foundation.

David T. Auble, assistant professor, Department of Biochemistry and Molecular Genetics, received $230,793 for his research on molecular analysis of particular proteins' role in DNA repair; and Dr. Joseph Wagstaff, associate professor, departments of Pediatrics and Biochemistry and Molecular Genetics, received $203,079 for research on genetic causes of Angelman and Prader-Willi syndromes in children.

Last year, Wagstaff and colleagues identified a naturally occurring on-off switching process that may control activation of genes causing Prader-Willi and Angelman syndromes, which are mirror-image chromosomal defects. Prader-Willi syndrome causes developmental delays and severe obesity, while Angelman syndrome causes severe mental retardation, seizures, absence of speech, almost constant smiling and laughter, unusual walking patterns and sleep disorder. Each disorder is estimated to affect approximately one in 12,000 to 15,000 children in the United States.

The March of Dimes funding will allow us to take the next steps in applying what we know about gene regulation in these devastating disorders to treatments, either before or after birth, Wagstaff said.

The March of Dimes Birth Defects Foundation has awarded nearly $1.5 million to U.Va. researchers since 2000 for scientific research that can help prevent birth defects, infant mortality and prematurity.

July 24, 2002