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Fellowship Research Project Funded in 2013


Investigating the contribution of von Willebrand factor (VWF) propeptide mutations to Type 3 von Willebrand disease (VWD) using Blood Outgrowth Endothelial Cells (BOEC)

Mackenzie Bowman
Queen’s University – Kingston, Ontario
One year funding. Start: October 1, 2013; To end September 2014.

Von Willebrand disease (VWD) is a bleeding disorder caused by a lack of or a dysfunction of the clotting protein called von Willebrand factor (VWF). The most severe form of VWD is type 3 VWD, which is caused by a complete absence of VWF. Patients that have this form of the disease have serious bleeding, either as a result of trauma or spontaneously. We have previously identified mutations that affect a critical part of the VWF gene in Type 3 VWD patients in Canada and we have learned how to grow endothelial cells from a peripheral blood sample from patients with VWD. By asking patients with mutations in this critical area to provide us with a blood sample, we can grow endothelial cells (the cells which line our blood vessels) from these patients. These endothelial cells contain the specific VWD defects we are interested in and we can investigate how these defects cause the patients’ VWD. We can also test different treatments on these cells to see if we can lessen or cure the VWD. This project will provide us with a better understanding of what causes Type 3 VWD and may help create personal treatment options for patients.