Robert P. Hebbell, Principal Investigator

Endothelial Cell Gene Expression as a Contributor to Clinical Phenotype in “Single Gene” Disorders

These researchers believe that inherited differences in vascular endothelial cell gene expression help define clinical phenotype in vascular disorders. An example is sickle cell anemia, a “single gene” disorder in which some children are at risk for stroke and others are not. Having developed the unique ability to obtain cultures of endothelial cells from a peripheral blood sample, these researchers are attempting a new experiment. They are taking endothelial cultures from patients with a defined phenotype (e.g., those with a stroke risk vs. those without a stroke risk) and examining patterns of endothelial gene expression. The researchers expect to find genes that contribute to phenotype. The analysis of the gene expression chip arrays is being done with the resources of the Computational Genetics Laboratory and the Basic Sciences Computing Laboratory.