Medicine/Hematology & Oncology
Professor
Email: jjohnsen@uw.edu | Phone: 206.685.8832
Our research program is dedicated to improving the diagnosis and care of patients with blood disorders through advancement of new knowledge and understanding of biology and through the translation of new knowledge and laboratory innovations to improve clinical testing. We are particularly interested at a better understanding of how DNA changes cause blood disorders, and how bleeding uniquely impacts females. In our lab we study the genetics and biology of variation in clotting factors and blood groups (blood types), with emphasis on coagulation factor VIII, factor IX, and von Willebrand factor, and clinically relevant blood group genes, particularly the ABO and Rh systems. Our research leverages new technologies, including targeted and whole genome next generation DNA sequencing, multi-omics, long-read sequencing, and new and novel molecular methods. We also develop and use in vitro functional studies, including large scale deep mutational scanning of genes of interest in mammalian cell display systems to inform and improve interpretation of the functional significance of DNA variants discovered in genes important in blood disorders.