Rate My Professor Karl Desch

Dr. Desch's research specializes in identifying and functionally characterizing human gene variants that regulate thrombosis and hemostasis, with a particular emphasis on neonatal and pediatric applications. His lab employs genome-wide association studies, Mendelian randomization, family linkage analyses, and whole-genome sequencing to detect common and rare variants. These efforts are complemented by in vitro functional assays, including deep mutational scanning of key hemostasis genes, CRISPR-based knockdown screens to uncover supporting factors, and proximity labeling to map protein interactomes. Notable contributions include principal investigatorship of the Biobank to Illuminate the Genomic Basis of pediatRic Disease (BIGBiRD) and a 2025 grant for Transforming Neonatal Intensive Care Through Microscale Blood Monitoring, in collaboration with David T. Burke. Dr. Desch's publications have garnered over 2,800 citations, highlighting works such as 'Detectable clonal mosaicism from birth to old age and its relationship to cancer' (Nature Genetics, 2012), 'Shigatoxin triggers thrombotic thrombocytopenic purpura in genetically susceptible ADAMTS13-deficient mice' (Journal of Clinical Investigation, 2005), 'Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association' (PNAS, 2013), and 'Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease' (Blood, 2020). His research has advanced knowledge of genetic risk factors for venous thromboembolism, coagulation factor regulation, and related hematologic conditions, influencing the field through high-impact studies in genetics and hematology. The Desch Lab also provides training opportunities for graduate students, postdocs, and undergraduates in biomedical science.