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Jeroen Eikenboom, MD, PhD

My research is focussed on the pathophysiology of inherited and acquired bleeding disorders, ranging from studying the bleeding phenotypes in haemophilia and von Willebrand disease to bleeding in the peri-operative phase of major surgery.
My research has a special focus on von Willebrand disease, the most frequent hereditary bleeding disorder. A better understanding of phenotype-genotype relations in von Willebrand disease will benefit the patient management. On the other end of the spectrum, elevated levels of von Willebrand factor and factor VIII are associated with thrombosis and a better understanding of the determinants of elevated levels may benefit thrombosis patients.
The research aims to characterize the phenotypic and genetic heterogeneity of von Willebrand disease and to study characteristics of the structure-function and clearance of von Willebrand factor and factor VIII. This is investigated through phenotypic and genotypic studies of national as well as international patient cohorts with von Willebrand disease, through in vitro expression of von Willebrand factor mutations as identified in patients, through laser confocal immunofluorescence and electron microscopic analysis of von Willebrand factor storage in Weibel-Palade bodies, and through the analysis of mutant von Willebrand factor in blood outgrowth endothelial cells. In addition to the pathophysiologic studies we also focus on developing RNA-targeted therapies for von Willebrand disease.