Exome sequencing in granulomatosis with polyangiitis (GPA/Wegener’s)
Institution: Division of Rheumatology, University of California, San Francisco
Award: $50,000, one-year study
Sharon Chung became interested in researching vasculitis while caring for patients with GPA and other vasculitis diseases during her internal medicine residency at Johns Hopkins University. “I was fascinated by how these diseases could have so many different manifestations, and how the underlying trigger for these diseases was unknown,” she notes. That prompted her to study the genetics of the disease, to see if she can identify genes and genetic mutations that predispose individuals to developing GPA in an effort to better understand how the disease develops. “Identifying genes that are associated with GPA can reveal biologic pathways that are important in developing this disease, and those pathways may provide novel targets for less toxic treatments and better diagnostic tests,” Chung continues.
Her proposed project is an advancement over current genetic studies, since she will be focusing on rare genetic mutations instead of the common genetic mutations that are usually studied. The VF funding is crucial the undertaking, but its patient network also is critical. Genetic research like this is completely dependent on patients who are willing to participate in genetic studies and provide DNA samples. “When more individuals participate, more powerful studies can be conducted, and thus, we are more likely to identify the genes involved in this disease,” she explains. “Participation in genetic studies is an easy, low-risk way of helping move research forward for these diseases.”
To learn more information about participating in a vasculitis genetics study, please click here .