KONKLE LABORATORY

von Willebrand Factor (VWF) and von Willebrand Disease (VWD)
Dr. Konkle’s research in this area relates to improved testing for VWD and changes of VWF and factor VIII (FVIII) in pregnancy in normal women and women with VWD. Her studies of VWF in pregnancy include collaborations with Dr. Jill Johnsen at Bloodworks Northwest and Dr. Hilary Gammill at the University of Washington. In collaboration with Drs. José López and Jing-fei Dong, they are evaluating VWF genetic variations, bleeding symptoms and laboratory measures of function in patients with and without VWD.

Genomics in Hemophilia
Dr. Konkle leads a nationwide project to determine the causitive genetic variant in hemophilia A and B and to establish a Research Repository linked to the ATHN clinical database for future research. A portion of repository specimens are undergoing whole genome sequencing through the NHLBI Transomics in Precision Medicine (TOPMed) program. The project is governed by a collaboration of Bloodworks, ATHN, the National Hemophilia Foundation and Biogen.

N-acetylcysteine (NAC) in Sickle Cell Disease and Thrombotic Thrombocytopenia Purpura (TTP)
In collaboration with and building on findings by Dr. lopez, we are leading clinical studies of NAC in patients with Sickle Cell Disease, including during painful crises. Data suggest that NAC treatment can decrease adhesive VWF and modulate red blood cell adhesion. We are also studying NAC in TTP.

Cardiovascular Disease in Men with Hemophilia
With improved treatments, the life expectancy of men with hemophilia is approaching that of the general population. The downside of that great advance is the occurrence of heart attacks as these men age, despite their low clotting factor. With funding from the CDC, Dr. Konkle and colleagues across the U.S. are further evaluating cardiovascular disease in hemophilia.

Clinical Trials of Treatments for Hemophilia and Other Disorders
Dr. Konkle has a longstanding interest in the evaluation of new treatments for bleeding and clotting disorders and has participated in multiple NIH, CDC and industry-sponsored trials of new therapies including gene therapy. At Bloodworks Northwest, in collaboration with Dr. Rebecca Kruse-Jarres, they are evaluating new treatments for hemophilia and von Willebrand disease. We have evaluated costs and quality of life issues in hemophilia through the Hemophilia Utilization Group Study and coagulation factor utilization and other data analyses through the American Thrombosis and Hemostasis Network.

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Thicker than water: Mother and son on a quest to cure their blood disorder
March 26, 2016