KARL DESCH

Role of Common and Rare Genetic Variants in Thrombosis

April 29, 2020

Our lab concentrates on the discovery and functional characterization of human gene variants that play important roles in thrombosis and hemostasis. In large human cohorts, we perform genome-wide association studies (GWAS), linkage mapping analyses in families and whole-genome sequencing to study rare variants. These discovery studies lead to focused functional experiments on the bench. Here, we study how the variants detected in GWAS linkage or WGS alter the function of the proteins they encode by using molecular and cellular models. We create and analyze saturating mutagenesis libraries of genes important in thrombosis. We conduct CRISPR knockdown library screens to discover critical genes that support the function of proteins in hemostasis. We use proximity labeling technology to characterize the protein-protein interactome of critical factors in thrombosis.