This project aims to address some of the important gaps in knowledge concerning the genetic, molecular and biologic control of von Willebrand factor (VWF) and pathogenesis of von Willebrand disease (VWD). Despite significant advances in the field fundamental scientific questions that have direct translational implications remain unanswered, including the association of VWF levels and bleeding risk, the role of VWF in Factor VIII (FVIII) biology, and changes associated with the aging process. We anticipate the duration of this part of the project (using the UK Biobank data) will be approximately three years. One of our ultimate goals is attempting to generate a detailed molecular landscape of low VWF and VWD type 1, resolve the complex genetic and biological architecture that underlies these two disorders, and generate new prediction models for disease risk, and use of this data will aid in that pursuit.
