CHOP Geneticist Honored for Pioneering Work in Human Gene Expression


Philadelphia, Nov. 23, 2010—Vivian G. Cheung, M.D., a geneticist at The Children’s Hospital of Philadelphia, received the Curt Stern Award of the American Society of Human Genetics on Sat., Nov. 6, at the Society’s 60th Annual Meeting in Washington, D.C.

Presented annually, the Stern Award recognizes a scientist or scientists for major scientific achievements in human genetics over the preceding 10 years.

Along with her collaborator and husband, the late Richard S. Spielman, Ph.D., Cheung and colleagues performed pioneering studies in the genetics of human gene expression. Gene expression is the process by which the information in DNA sequences is interpreted as proteins that play biological roles. In any individual, levels of expression may be lower or higher.

Cheung and Spielman were the first to show that variation in human gene expression is extensively inherited, and they measured that variation. They identified DNA variants that influence gene expression, and analyzed levels of expression as quantitative (measurable) traits. By uncovering many genes that regulate the expression of other genes, they made groundbreaking advances in understanding how gene regulation works.

In combining molecular, genomic and statistical approaches to measure levels of gene expression, their work opened a new field. Cheung’s novel approach enabled researchers to analyze thousands of gene expression levels simultaneously, transforming the scale of human genetic studies. Her analysis of how gene variants regulate gene expression has advanced the understanding of genetic influences on disease risks. Other scientists have adopted their methods to investigate genetic susceptibility to complex human diseases. As a result, Cheung’s and Spielman’s work continues to have an important impact on human genetics research.

Cheung holds the William Wikoff Smith Chair of Pediatric Genomics at The Children’s Hospital of Philadelphia, and also is a professor of Pediatrics and Genetics at the University of Pennsylvania School of Medicine. Since 2008, she has also been an investigator of the Howard Hughes Medical Institute.

About The Children’s Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children’s Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 460-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit

Contact: John Ascenzi
The Children’s Hospital of Philadelphia
Phone: (267) 426-6055