Genetics Researcher Receives First CdLS Fellowship
News Jul 07, 2008
The Cornelia de Lange Syndrome (CdLS) Foundation has awarded its first ever fellowship to Jinglan Liu, PhD, a researcher in the Division of Human and Molecular Genetics at The Children's Hospital of Philadelphia. The two-year fellowship will support Dr. Liu’s research into the genetic causes of CdLS.
“This is an important step for the Foundation,” said Executive Director Liana Garcia-Fresher. “It shows our commitment to furthering the understanding of CdLS and supporting research that will have a positive impact on individuals with the syndrome in the future.”
Cornelia deLange syndrome (CdLS) is a genetic condition in which children are born with small stature, small hands and feet, small head circumference, distinctive facial features, and, sometimes, missing limbs or partial joining of toes.
Dr. Liu will present her research study, "Genomic Consequences of Cohesin Dysfunction in CdLS: Identification of Dysregulated Gene Expression with Phenotypic Consequences" at the Third National CdLS Scientific Symposium on June 26.
Dr. Liu, who attended Beijing University before receiving her PhD at Temple University, has been interested in gene regulation in human developmental disorders for most of her professional career. Currently, she is a member of Dr. Ian Krantz’s research lab, which is credited with discovering two of the three gene changes that cause CdLS.
Before coming to CHOP in 2006, Dr. Liu was part of Dr. Uta Francke's lab at Stanford University, where she focused on gene regulation in Rett's syndrome and studied mouse models for Williams and Prader-Willi syndromes.
Previous work by the International Multiple Sclerosis Genetics Consortium (IMSGC) has identified 233 genetic risk variants. However, these only account for about 20% of overall disease risk, with the remaining genetic culprits proving elusive. A new study has tracked down four of these hard-to-find genes.READ MORE