Versiti researchers exploring factors behind von Willebrand disease

Bob Montgomery

Scientists at the Versiti Blood Research Institute in Milwaukee are studying a common but often undiagnosed blood disorder, with a twin goal of improving diagnosis and treatment. 

Von Willebrand disease affects about 1 percent of the U.S. population. This genetic disorder, characterized by a missing clotting protein, can cause heavy bleeding and easy bruising, as well as frequent nosebleeds and more serious complications. 

Senior Investigator Robert Montgomery says adult women are affected most by symptoms. According to him, women with the disorder can experience hemorrhaging after childbirth, and many women have undergone unnecessary hysterectomies due to excessive menstrual bleeding that may have been related to von Willebrand disease. He tells his research team aims to avoid outcomes like that by better understanding the causes behind the disease. 

Versiti has been awarded a $13.2 million grant from the National Institutes of Health, funding the next five years of its studies on VWD. According to a release, Versiti has received more NIH grant funding than any other blood center in the country. 

“We have essentially a bank of patient samples that can be used for various projects,” Montgomery said. “Those major projects are focused on different aspects of what causes von Willebrand disease.” 

Researchers will be tracking bleeding over time in patients, and comparing that to variables such as age and stress, as well as surgical history and genetics. 

Versiti will be working with more than 10 other partners, including research institutions, clinical care providers and other health systems around the world to explore the influence of these factors. 

Montgomery explains the latest five-year funding is just the most recent cycle in an effort that goes back to mid-2005. The disease was first identified in the 1970s, and Versiti began studying VWD nearly 15 years ago. 

In one of the previous funding cycles, Montgomery says researchers found many people with the common form of the disease did not have a mutation in a gene that’s been linked to VWD. 

And in another, they found one of the tests commonly used to measure von Willebrand clotting factor was misidentifying the disease in African Americans, two-thirds of whom have differences in their genes that affect diagnosis of VWD. 

Understanding genetic differences like these could be key to identifying causes behind the disease, he said, thereby improving treatment. He said genome sequencing as well as new gene editing techniques could help identify and manipulate genes that play a role in the disorder. 

The work being done at Versiti is part of a larger research effort, the Zimmerman Program on the Biology of VWD. It officially began in March, and continues through February 2024. 

Versiti scientists will work with samples collected at the Children’s Hospital of Wisconsin through Medical College of Wisconsin faculty. Other partners include the Royal College of Surgeons in Ireland, Queens University in Kingston, Ontario, the University of Colorado and many more.