Our lab concentrates on the molecular characterization of common and rare variants in genes associated with bleeding or thrombosis risk in humans. Through the study of large cohorts of human subjects, we and others have identified genetic variants associated with altered risk for disease. In our lab, we employ molecular and cellular techniques, such as mammalian cell culture, proteomic profiling, genome-wide CRISPR mediated knock-out screens, and mutagenesis libraries to functionally characterize the altered molecular genetic mechanisms contributing to disease risk.
Karl Desch, MD
Pediatrics and Communicable Diseases, Division of Neonatal-Perinatal Medicine