In March, the Medical College of Wisconsin (MCW) received a five-year, $10 million National Heart, Lung, and Blood Institute Program Project Grant. This grant will allow researchers to continue genetic studies on patients with von Willebrand disease (VWD), the most common hereditary bleeding disorder estimated to occur in 1% to 2% of the population. Pediatric hematologist Robert R. Montgomery, MD, professor of pediatrics at MCW, senior investigator at the Blood Research Institute of the BloodCenter of Wisconsin, and pediatric hematologist at Children’s Hospital of Wisconsin, is principal investigator for the grant. He is a member of the National Hemophilia Foundation’s Medical and Scientific Advisory Council (MASAC).
VWD and its subtypes are characterized by either quantitative defects (decreased amount) or qualitative defects (abnormal structure or function) in von Willebrand factor (VWF). Bleeding symptoms can be mild, moderate or severe, depending on the type. The investigators will use the grant to further research on 600 families to learn more about the genetic mutations and clinical factors that cause a deficiency of VWF.
“There is a lack of understanding of the genetic causes of low or abnormal VWF, and the molecular mechanisms involved in the disorder,” said Montgomery. “While a large number of individuals have low VWF with abnormal bleeding symptoms, it is not scientifically clear if this is a disease, or if VWF is a continuous risk-factor for bleeding. For many practicing physicians, the general understanding of this group of disorders has not been optimal, and how to evaluate and treat these patients has been unclear.”
Montgomery’s co-investigators at MCW and Children’s Hospital of Wisconsin are: Sandra L. Haberichter, PhD, associate investigator at the Blood Research Institute and associate professor of pediatrics; Joan Cox Gill, MD, professor of pediatrics and Director of Comprehensive Center for Bleeding Disorders at the BloodCenter of Wisconsin; Raymond G. Hoffmann, PhD, professor of biostatistics in pediatrics; Veronica H. Flood, MD, assistant professor of pediatrics; and Kenneth D. Friedman, MD, associate professor of medicine and Director of Hemostasis Laboratory and Medical Director at BloodCenter of Wisconsin.
In addition, there are seven primary clinical centers and more than 25 secondary clinical centers throughout the U.S. that recruit research subjects and send the samples to Milwaukee for the specialized testing.
The project grant mechanism is designed to support synergistic research, in which the funding of several interdependent projects as a group offers significant scientific advantages over supporting these projects as individual research grants. This multinational grant is facilitated by teamwork between the MCW, BloodCenter of Wisconsin and Children’s Hospital of Wisconsin, which oversee subcontracts to Queens University in Canada and University of Sheffield in the United Kingdom.
Source: Medical College of Wisconsin news release dated March 12, 2012