Scientists use DNA from NPF BioBank to identify first gene linked to the disease

Discovery may lead to targeted, more effective treatments for plaque psoriasis

The first published study using genetic material from the National Psoriasis Victor Henschel BioBank has identified a gene directly linked to plaque psoriasis. Researcher Anne Bowcock, genetics professor at Washington University School of Medicine in St. Louis and senior author of the study, and her colleagues used the BioBank DNA to uncover a rare mutation in the CARD14 gene that, when activated by an environmental trigger, leads to plaque psoriasis.

The Victor Henschel BioBank—established by the National Psoriasis Foundation in 2006 to honor Victor Henschel, who lived with psoriasis and psoriatic arthritis for 35 years—is a collection of DNA samples and clinical information used to advance psoriasis genetic research.

Bowcock and colleagues identified the CARD14 gene mutation in two large families with a strong prevalence of plaque psoriasis and psoriatic arthritis, suggesting that the same mutation occurs in both diseases. The findings indicated that CARD14 mutations can also be involved in pustular psoriasis. In a university news release, Bowcock said that scientists have searched for almost 20 years to find a single gene linked to plaque psoriasis and that these mutations will be important in developing new treatments.

The researchers note that the mutation does not have to be inherited, but can occur spontaneously. A young girl with pustular psoriasis, whose parents did not have the CARD14 mutation, also showed the rare mutation. In this case, she developed psoriasis after a staph infection.

According to Bowcock, this development is significant because it shows that the CARD14 gene itself, plus an environmental trigger such as an infection, is enough to cause psoriasis.

"We applaud the tenacity of dedicated researchers, such as Anne Bowcock, who are leading the charge against psoriasis and psoriatic arthritis, and we are optimistic that through their efforts, a cure will be found," said Andrew Henschel, Victor's grandson, who lives in Miami.