Sturge Weber Syndrome: Moving Translational Science Forward into the Clinical Realm

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Project Summary/Abstract The Sturge-Weber Foundation (SWF) is requesting funds for a meeting in 2023 where clinical and basic science research conferences will be combined in a new format to accelerate the pace of translational research in the Sturge-Weber community. The theme for the meeting is “Moving Translational Science Forward into the Clinical Realm”. This meeting will bring together a diverse group of participants to translate recent research findings about Sturge-Weber Syndrome (SWS) into new clinical trials. This meeting was last held in 2022 as two separate events, and the program for 2023 is designed to bring together both established and junior researchers and clinicians along with a diverse panel of experts in the study and treatment of SWS. Activities during the meeting will be designed to maximize the interaction between senior and junior investigators, to help encourage a new generation of physicians and scientists studying SWS and related neurovascular disorders. SWS is a rare neurocutaneous disorder caused by a somatic mosaic mutation in the GNAQ gene and is characterized by vascular malformations in the brain, skin, and eyes, leading to a range of symptoms including seizures and chronic pain. Despite treatment, many individuals with SWS continue to experience significant challenges in their daily lives. The SWF provides support and resources for individuals and their families living with SWS. The 2023 meeting will be held at the Marriott Courtyard in Chapel Hill, North Carolina. This site is convenient and affordable for travel for all of our attendees, and we plan to offer travel stipends for young scientists and physicians as we strive to build an equitable program for all. We expect that the discussions and presentations at this conference will improve our understanding of the molecular mechanisms behind Sturge- Weber syndrome and lay the groundwork for developing new treatments for the disorder. The conference's poster sessions and other informal interactions among participants will also promote collaboration and advance research in this area.