Medical College secures $9.7M research grant

Wauwatosa, Wis - A research team at the Medical College of Wisconsin has received a five-year, $9.7 million project grant from the National Heart, Lung, and Blood Institute to support genetic studies into a hereditary bleeding disorder.

The funding, which was awarded to an investigative team led by pediatric hematologist Robert Montgomery, will be used to improve both the molecular and clinical understanding of Von Willebrand disease (VWD).

Montgomery, a professor of pediatrics at the Medical College and a senior researcher at the Blood Research Center of the Blood Center of Wisconsin, is principal investigator for the grant.

Family history of a bleeding disorder is the primary risk factor for VWD, but many physicians don't understand the contributing factors, and treatment options are unclear.

"There is a lack of understanding of the genetic causes of low or abnormal VWF, and the molecular mechanisms involved in the disorder," Montgomery said in a release. "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." Von Willebrand disease is caused by a deficiency of von Willebrand factor, which is necessary for normal blood clotting. According to the Medical College, most cases are mild, but aspirin and other nonsteroidal anti-inflammatory drugs can make the condition worse. The condition affects both men and women, but women may suffer very heavy menstrual bleeding.

The grant will support projects to determine the clinical and genetic characteristics of a large number of VWF patients and carriers of genes for various forms of the disease. Projects also will explore the impact of specific combinations of these genes and the affect unrelated genetic mutations may have on individuals and families.

Montgomery's co-investigators are housed at the Medical College and Children's Hospital of Wisconsin. They are Sandra L. Haberichter, assistant professor of pediatrics; Joan Cox Gill, professor of pediatrics; Raymond G. Hoffmann, professor of biostatistics; Veronica H. Flood, assistant professor of pediatrics; J. Paul Scott, professor of pediatrics; Cheryl A Hillery, professor of pediatrics; and Kenneth D. Friedman M.D., associate professor of medicine.

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