Dr. Kristen Kelly, UC Irvine professor of surgery and dermatology, has received a 2-year, $30,000 grant, “Vascularized port wine stain skin model for evaluation of cell types in lesion pathogenesis,” from The Sturge-Weber Foundation (The SWF).
This grant is a result of collaborations with Christopher Hughes, professor and chair of molecular biology & biochemistry, and medical student Larisa Lehmer.
Founded in 1987 by Kirk and Karen Ball as a non-profit organization after their daughter, Kaelin, was diagnosed with Sturge-Weber Syndrome at birth, The SWF’s mission is to improve the quality of life and care for people with Sturge-Weber syndrome through collaborative education, advocacy, research and friendly support. In 1992, the mission was expanded to also support and serve individuals with Klippel Trenaunay and isolated Port Wine Stain birthmarks (PWS).
Sturge-Weber Syndrome (SWS) is characterized by a congenital facial birthmark and neurological and eye abnormalities. The most apparent manifestation of SWS is a port wine stain present at birth and typically involving at least one upper eyelid and the forehead. The birthmark, varying from light pink to deep purple, is due to an overabundance of capillaries just beneath the surface of the involved skin.
The cause of PWS is unknown, which makes development of good new treatments difficult. Laser treatment which damages blood vessels is available to lighten and/or remove PWS in children as young as one month of age, but Dr. Kelly and her group came to the conclusion that improving vessel destruction was not enough. This prompted her to seek collaborations with basic scientists to try to better understand the pathogenesis of SWS and non-syndromic PWS.
Dr. Kelly has hypothesized that an in vitro PWS skin model can be constructed to determine which cell is responsible for the growth of abnormal vasculature. This information could then be used to identify targets for treatment. It is not known whether the problem is due to the cells that form blood vessels or to an abnormality in their environment.
Different cell types will be tested to determine which of them contains the gene change that was recently identified by researchers supported by the SWF. A better understanding of how blood vessels in PWS are growing abnormally and what cells are primarily responsible for this change is the next important step to develop targeted treatments to eliminate the physical and psychosocial trauma associated with these lesions.