The Sturge-Weber Foundation (SWF) awarded grants totaling $88,000 for research to improve the understanding and treatment of Sturge-Weber syndrome (SWS) and port-wine birthmarks. The 2014 SWF Research Grants will support research conducted by two prominent investigators over two years. The grants are the largest awarded by the Sturge-Weber Foundation to date.

Jonathan Pevsner, Ph.D., Professor of Neurology and Director of Bioinformatics at the Kennedy Krieger Institute, will conduct DNA sequencing of patients with SWS to gain a better understanding of the basic biology of SWS and potential treatment strategies.

Kristen Kelly, M.D. Clinical Vice Chief, Dermatology at the University of California, Irvine School of Medicine will evaluate cell types of lesions in patients with port-wine birthmarks to help better understand their causes and identify targets for treatment.

“We are proud to fund these prominent researchers in their quest to find answers for families with Sturge-Weber syndrome and port-wine birthmarks,” said Karen L. Ball, Founder and President of the Sturge-Weber Foundation. “The Foundation is grateful to its supporters for their strong commitment to advancing research. Together we are building on the momentum of the discovery of the genetic mutation responsible for Sturge-Weber syndrome last year, with the ultimate goal of translating hope into treatment.”

Sturge-Weber syndrome is a rare neurological disorder characterized by a facial port-wine birthmark and neurological abnormalities, including seizures and glaucoma. Port-wine birthmarks occur in three in 1,000 newborns. While no population-based data exist for how many people have SWS, estimates range between one in 20,000 to 50,000 newborns.1 In May 2013, after more than 25 years of research, investigators identified the gene mutation responsible for SWS.2 While this is one of the most significant advances in the pursuit of a cure for SWS, we are continually looking for new breakthroughs in preventing the medical and developmental problems resulting from the condition.

“This year’s research grant was extremely competitive due to the high quality research being conducted on Sturge-Weber syndrome, and our decision was based on the significant potential for these to lead to targeted treatments in the future,” said Alex V. Levin, M.D., MHSc, FRCSC, Director of Pediatric Ophthalmology and Ocular Genetics at Wills Eye Hospital in Philadelphia, and Chair of the Sturge-Weber Foundation’s Medical Advisory Board that selected the grant recipients. “This research can bring us one step closer to our goal of eliminating the physical and psychosocial trauma associated with these conditions.”

From Discovering the Sturge-Weber Mutation to Basic Research Enabling Treatment Strategies

Dr. Pevsner is one of the researchers who identified mutations in the GNAQ gene as the cause of SWS, in collaboration with Anne Comi, M.D., Director of the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute and Douglas Marchuk, M.D. at Duke University. In his new research, Dr. Pevsner proposes setting up a screen for the entire SWS research community to sequence DNA samples from patients to give investigators a better understanding of the basic biology of SWS and how to develop treatment strategies. Specialized DNA sequencing is needed because of the nature of the SWS mutation, where only one percent to 18 percent of patients in a SWS sample harbor the GNAQ gene mutation. With this data, he hopes to create an antibody that will allow researchers to determine which cell type(s) harbor the mutation, which will help investigators to develop treatment strategies. More information about Dr. Pevsner’s research and how to participate in the DNA screening will be shared at the SWF International conference in July 2014.

Vascularized Port Wine Stain Skin Model for Evaluation of Cell Types in Lesion Pathogenesis

Dr. Kelly will evaluate three main cell types of lesions in patients with port-wine birthmarks, the cells that form blood vessels, support cells, and the cells of the top-layer of skin. Since the cause of port-wine birthmarks is unknown, it is difficult for researchers to develop new treatments. By testing the cell types to determine which ones contribute most to the disease, Dr. Kelly’s team will gain a better understanding of how blood vessels in port-wine birthmarks are growing abnormally and what cells are primarily responsible for the gene change responsible for port-wine birthmark formation.

About Sturge-Weber Syndrome

Sturge-Weber syndrome (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder of unknown incidence. It is characterized by a congenital facial birthmark and neurological abnormalities. Other symptoms associated with SWS can include eye and internal organ irregularities. Each case of SWS is unique and exhibits the characterizing findings to varying degrees.

About the Sturge-Weber Foundation

Since its founding in 1987, the Sturge-Weber Foundation (SWF), a 501 (c) (3) not-for-profit organization, has provided information, education and friendly support to adults and families of children with Sturge-Weber syndrome (SWS), a neurological disorder characterized by a facial port-wine birthmark and neurological abnormalities, including seizures and glaucoma. In 1992, the SWF expanded its outreach to include Klippel-Trenaunay (KT), a vascular disorder involving a port-wine birthmark on the body or a limb. The SWF has initiated and supported comprehensive clinical and basic research into the diagnosis and treatment of these conditions, including the establishment of 10 Centers of Excellence in cities throughout the United States. These centers provide the comprehensive care necessary for treating adults and children who have a port-wine birthmark, SWS or KT. The SWF continues to collaborate, translate the research, and improve the quality of life and care for people with SWS and associated port-wine birthmark conditions. For more information, visit its website and Facebook.