Innovative approaches to gauge progression of Sturge-Weber Syndrome - BVMC 6202. Innovative approaches to gauge progression of Sturge-Weber Syndrome - BVMC 6202

Sturge-Weber syndrome (SWS) is a rare, congenital but sporadic (non-inherited) disease with vascular malformations of the brain, skin and eye. The underlying cause of SWS was recently discovered by this group and is now known to be the result of a somatic mosaic mutation in GNAQ. The extent of involvement varies greatly from patient to patient. Individuals with Sturge-Weber Syndrome (SWS) sometimes have brain involvement which can result in seizures, stroke-like episodes and neurologic deficits. This is a study of 600 individuals diagnosed with Sturge-Weber Syndrome. The purpose of this study is to conduct an investigation of the natural history, morbidity, and mortality in people with Sturge-Weber syndrome. The original objectives of this study were to: Aim 1: Create a national clinical SWS database. Aim 2: Determine the utility of urine biomarkers for the monitoring of neurologic progression in SWS. Aim 3: Apply genomics and DNA arrays to identifying... (for more see dbGaP study page.)