Bloodworks Northwest/University of Washington
Genetics of Hemophilia
September 1, 2020
The Johnsen Lab studies the genetics and biology of clotting factors and blood groups, with emphasis on factor VIII (FVIII), factor IX (FIX), von Willebrand factor (VWF), and clinically relevant blood group genes in ABO and Rh. Dr. Johnsen is further interested in how inherited bleeding disorders uniquely impact females, particularly in hemophilia and von Willebrand disease. Her research focuses particularly in taking new laboratory approaches to identify different types of changes in DNA, proteins, and carbohydrates. Findings from this work informs functional studies on the causes of disease and inform interpretation of genetic data.
genetics, genomics, hemophilia A, hemophilia B, next generation sequencing