Life with a rare disease can seem like a remote possibility—until a loved one is affected.
This was the experience of Barbara and Frank Resnek, when their close family member was diagnosed with primary sclerosing cholangitis (PSC), a chronic liver disease with links to ulcerative colitis, a more common autoimmune disorder. In the United States, PSC affects about 30,000 people in prime years of their lives—usually between ages 30 to 60, and sometimes much younger.
Seeking information, the Resneks were disheartened to learn that people with PSC face an uncertain future and do not have effective treatment options.
“We’re highly motivated to help the search for new therapies that could delay liver failure or need for a transplant,” says Frank. “And with normal funding channels falling short, we couldn’t sit back and wait for something to happen.”
In their search for physician-researchers as passionate as they are about finding breakthroughs for PSC, Frank and Barbara found Joshua Korzenik, MD, director of the Crohn’s and Colitis Center, and Scott Snapper, MD, PhD, director of research for inflammatory bowel disease, at Brigham and Women’s Hospital (BWH).
“Hearing them talk about their work gave us hope. They’re a wonderful team of doctors, and we want to do what we can to help.” —Frank Resnek
After meeting with Korzenik, Snapper, and other experts in colitis, including Jessica Allegretti, MD, MPH, the Resneks resolved to accelerate their investigation of new treatment methods, and pledged $5.25 million to establish the Resnek Family Fund for PSC Research at BWH.
“Being in that room and hearing them talk about their work gave us hope,” says Frank. “I was truly overwhelmed by their dedication to finding therapies. They’re a wonderful team of doctors, and we want to do what we can to help.”
The Resnek family’s investment has enabled Korzenik and his team to aggressively tackle PSC and ulcerative colitis on several fronts by studying the role of genes, microbiota, environmental triggers, and the immune system.
“The Resneks’ guidance and desire for a direct clinical impact has been essential in shaping our research,” Korzenik says. “We share their sense of responsibility and urgency to make an impact on PSC, which has a worrisome prognosis. This gift is providing us with remarkable freedom to explore new ideas and approaches that we hope will benefit patients in the near future.”