Sturge-Weber Foundation awards research grants to advance treatment of Sturge-Weber syndrome

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.

Kennedy Krieger Institute Bioinformatics director and Neurology professor Dr Jonathan Pevsner 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.

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.

Dr Pevsner is one of the researchers who identified mutations in the GNAQ gene as the cause of SWS, in collaboration with Dr Anne Comi., Director of the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute and Dr Douglas Marchuk 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.

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.