Jill Johnsen, MD

Associate Professor
Department of Medicine, University of Washington, Seattle, WA, US; Institute for Stem Cell & Regenerative Medicine, University of Washington, Seattle, WA US
Seattle, Washington, United States

Jill Johnsen, M.D. is an Associate Professor at the University of Washington. She is a physician scientist with expertise in classical (benign) hematology and studies the genetics and biology of variation in clotting factors, with emphasis on coagulation factor VIII, factor IX, and von Willebrand factor. Through research, she is dedicated to improving the diagnosis and care of patients with blood disorders by advancing our basic understanding of the underlying biology and through the translation of new knowledge and innovations to improve clinical testing. Her research leverages new technologies in DNA sequencing, multi-omics, and in vitro functional studies using multiplex assays of variant effects (MAVEs) to study the impact of variation in coagulation genes at scale.

Presentation(s):

• OC 17.2 - Type 2N VWD VWF variants and a more common VWF variant show defects in VWF-FVIII binding in a mammalian cell-surface display system

  Sunday, June 23, 2024
  09:45 – 10:00 ICT

• SSC 08.6 - Introduction of Focused Discussion on Increasing Access for All to Genetics & Genomic testing in IPBD

  Sunday, June 23, 2024
  17:24 – 17:26 ICT

• SSC 08.8 - Multiplex assays of variant effects (MAVEs): application to FIX variants

  Sunday, June 23, 2024
  17:39 – 17:51 ICT

• SOA 12.4 - Models to diagnose bleeding

  Monday, June 24, 2024
  08:00 – 09:15 ICT

• OC 63.3 - Specifications of ACMG/AMP Variant Curation Guidelines for VWF variants in type 2 von Willebrand disease: Recommendations by ClinGen’s von Willebrand Disease Variant Curation Expert Panel

  Tuesday, June 25, 2024
  15:15 – 15:30 ICT