Sturge-Weber Syndrome is a rare congenital, neurological disorder. It is most readily identifiable by a port-wine birthmark on the face of those affected, and causes abnormal blood vessels to develop in the skin, eyes, and on the surface of the brain. The abnormal blood vessels in the skin and eyes can cause port-wine birthmarks and glaucoma. Yet, it is the abnormal blood vessels on the surface of the brain that pose the greatest threat because they often lead to other health complications, including seizures, strokes and stroke-like episodes, impaired motor coordination, paralysis, developmental delays, learning disabilities, mental retardation, migraines, mood and behavior problems and even death.
GROUNDBREAKING DISCOVERY GIVES PATIENTS HOPE:
According to Anne Comi, M.D. (Director of the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute), Jonathan Pevsner, PhD (Associate Professor at Johns Hopkins University School of Medicine and Kennedy Krieger Institute), and Douglas A. Marchuk, PhD (Director of Molecular Genetics and Microbiology at Duke University School of Medicine), the co-senior authors of the clinical research that produced the discovery, Sturge-Weber Syndrome and port-wine birthmarks are caused by a somatic activating mutation in the GNAQ gene which occurs during early pregnancy. “This is a complete game changer for those with Sturge-Weber syndrome and the millions born with port-wine birthmarks,” said Dr. Comi. “Now that we know the underlying genetic mutation responsible for both conditions, we’re hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time.” Although much more research must be done, the study, published on May 8, 2013 in the New England Journal of Medicine, brings researchers closer than ever to a cure. “We have real hope in the next five to ten years…that there will be…new treatments and perhaps even a cure for Sturge-Weber Syndrome,” said Dr. Comi.