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

项目总结/摘要 斯特奇-韦伯基金会（Sturge-Weber Foundation）正在为2023年的一次会议申请资金， 和基础科学研究会议将以新的形式相结合，以加快 Sturge-Weber社区的翻译研究步伐。会议的主题是 “将转化科学推向临床领域”。本次会议将汇集 一个多元化的参与者群体，翻译关于斯特奇-韦伯的最新研究结果， 综合征（SWS）进入新的临床试验。本次会议上一次是在2022年举行的， 活动，2023年的计划旨在汇集既有和初级 研究人员和临床医生沿着与不同的专家小组在研究和治疗 SWS。会议期间的活动将旨在最大限度地加强高级官员之间的互动， 和初级研究人员，以帮助鼓励新一代的医生和科学家 研究SWS和相关的神经血管疾病。SWS是一种罕见的神经皮肤疾病 由GNAQ基因中的体细胞嵌合突变引起，其特征在于血管 大脑、皮肤和眼睛的畸形，导致包括癫痫发作在内的一系列症状 和慢性疼痛。尽管治疗，许多SWS患者继续经历 日常生活中的重大挑战。联合国儿童基金会提供支持和资源， 与SWS一起生活的个人及其家人。2023年会议将在万豪酒店举行 庭院在查佩尔山，北卡罗来纳州。这个网站是方便和负担得起的旅行为所有 我们计划为年轻的科学家和医生提供旅行津贴，因为我们 努力为所有人建立一个公平的方案。我们希望， 这次会议将提高我们对斯特奇背后的分子机制的理解， 韦伯综合征，并为开发新的治疗方法奠定了基础。的 会议的海报会议和与会者之间的其他非正式互动也将 促进这一领域的合作和研究。

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.