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Falk Foundation Grant Advances Translational Research in Scleroderma

By Steve Bjerklie

Ground-breaking discoveries about a rare and debilitating family of diseases has earned Michael Whitfield, PhD, a translational genetics researcher at Dartmouth's Geisel School of Medicine, a highly competitive Catalyst Award from the Dr. Ralph and Marian Falk Medical Research Trust. The $300,000 award recognizes Whitfield’s accomplishments in research on scleroderma, a family of autoimmune diseases that affect the skin and, in severe cases, internal organs. His work focuses on systemic sclerosis, the most severe kind of scleroderma.

Using gene expression techniques to develop molecular “fingerprints,” Whitfield has identified four subgroups of systemic sclerosis—a critical development since physicians had been baffled by why drug therapies were effective for some patients with systemic sclerosis but not for others. Whitfield labels the four subgroups as Inflammatory, Fibroproliferative, Normal-like, and Limited.

“With the Falk grant, we’ll be developing diagnostic techniques to easily identify these subtypes in patients and working to identify new therapies for each of the subsets, which will also help reposition existing drug therapies to be more effective,” says Whitfield, an associate professor of genetics. His collaborators on this project include Northwestern Feinberg School of Medicine, Drexel University College of Medicine, Celdara Medical, and Stanford University. The subgroups are already being used to inform clinical drug trials, with the hope that they will become part of standard patient care.

Falk Catalyst Awards provide seed funding to help investigators and their institutions lay the foundation for successful application to the Trust’s Transformational Research Program in 2015 and beyond. The Falk family, which has a long history of supporting biomedical research, also has two endowments at Geisel—one for operating expenses and one for scholarships. Ralph Falk was a 1942 graduate of Dartmouth College and a former member of the Geisel Board of Overseers.

Systemic sclerosis afflicts about 50,000 Americans.

“It’s a terrible disease, and it has the worst fatality rate of any systemic autoimmune disease,” says Whitfield. “Approximately one in three people with scleroderma die within 10 years of diagnosis, with the cause of death most often being lung disease.”

Symptoms include hardening of the skin (fibrosis), usually on the arms, hands, and face, thickening skin on the fingers, dilated capillaries on the face, often accompanied by cardiovascular, gastrointestinal, pulmonary, musculoskeletal, and genitourinary symptoms. There is no cure and “no real treatment, unfortunately,” adds Whitfield. “At this point, we have a lot more questions than we do answers.”

Systemic sclerosis is fairly evenly distributed throughout the world, which supports the notion that genetic susceptibility is a risk factor and gives added importance to the gene-expression research being conducted in Whitfield’s lab. That research may one day lead to development of drug therapies that will be able to identify the cause of the disease and give scleroderma patients hope for a longer, and relatively normal, life. That’s what Whitfield is hoping for and why the Falk Foundation is investing in his research.

Whitfield earned his PhD at the University of North Carolina at Chapel Hill and did post-doctoral work at Stanford University in California. He came to Dartmouth in 2003. While at Stanford, he was researching genetics and cancer when he was asked by the Scleroderma Research Foundation to analyze some data relating to genetic implications in scleroderma. “That’s how I first got interested in this disease,” he says. “Sometimes, serendipity is important.”

But in the case of Whitfield’s Catalyst Award, it was hard work, top-notch science, and relevance to an important clinical problem—not chance—that was important.


Steve Bjerklie lives in New Hampshire and writes about medicine and health care.