CHOP geneticist honored for excellent research

Presented annually, Stern Award recognizes a scientist or scientists for more scientific achievements in the field of human genetics over the past 10 years.The combination of molecular approaches, genomics and statistics to measure the expression levels of genes, their work has opened a new field. His analysis of how genetic variants that regulate gene expression has advanced the understanding of genetic influences on disease risk. Other scientists have adopted their methods to study genetic susceptibility to complex human diseases. As a result, Cheung and Spielman’s work continues to have a significant impact on research in the field of human genetics.

Cheung and Spielman were the first to demonstrate that the variation in the expression of human genes is largely inherited, and have measured the variation. They identified DNA variants that influence gene expression, and analyzed the expression levels of quantitative (measurable) traits. The discovery of many genes that regulate the expression of other genes, which have made strides in order to understand how gene regulation.

William Wikoff Smith Chair Cheung genomics Children’s Hospital for Children in Philadelphia, and is also professor of pediatrics and genetics at the University of Pennsylvania School of Medicine. Since 2008, she was also an investigator at the Howard Hughes Medical Institute.