Sturge-Weber syndrome: Leveraging a Gene Discovery for the Future

Hugo W. Moser Res Inst Kennedy Krieger, Baltimore MD

Investigators

Linked publications & trials

Abstract

? DESCRIPTION (provided by applicant): Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that presents with a facial port- wine stain birthmark (PWSB) associated with abnormal blood vessels in the brain and the eye. It results in seizures, stroke-like episodes, vision problems including glaucoma, as well as neurologic problems including a range of intellectual impairments and hemiparesis. Current therapy is primarily symptomatic. The somatic mutation in GNAQ, found to be the cause of port-wine stains (prevalence 1in 300) and Sturge-Weber syndrome (prevalence approximately 1 in 20,000), results in a cysteine substitution at GaqArg183. GNAQ encodes a guanine nucleotide associated protein (q polypeptide; Gaq) that forms the ¿ subunit of a heterotrimeric Gq protein complex essential to the intracellular signalin of a subset of G protein coupled receptors (GPCRs). The mutation is moderately hyper-activating and a great deal is known about downstream pathways. This recent discovery suggests many new possible paths to take for future research and therefore a research conference focused on the gaps in knowledge and the approaches most likely to bring new, effective and targeted treatments is greatly needed. Objective: The goal of this clinical and translational research conference focused on Sturge-Weber syndrome is to identity the most urgent clinical research questions and pair them with proposed translational research approaches most likely to suggest effective novel treatment strategies. Approach: A Planning Committee has been formed with representation from experts in the neurological, dermatologic, and ophthalmologic aspects of SWS, as well as in translational studies, and the Sturge-Weber Foundation. Together the Planning Committee designed a meeting which will have speakers able to inform the meeting of the clinical and research aspects of SWS. The sessions will be designed to be interactive and encourage question and answer and discussion. Speakers will be brought in from allied fields whose expertise, while not in SWS, are expected to inform the field now that we understand the genetic basis of SWS. The meeting will be open to all interested in SWS and young investigators especially will be encouraged to attend. There will be designated poster and oral presentation opportunities for young investigators. Significance: This meeting will likely build new collaborations, attract new investigators into the field- especially young investigators, suggest novel research and treatment strategies for investigation, and take the field of SWS research several large steps forward towards the goal of safe and effective new treatments.