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

斯特奇·韦伯综合症：将转化科学推向临床领域

• 批准号: 10754154
• 负责人: Matthew Shirley
• 金额: $ 1.64万
• 依托单位: THE STURGE-WEBER FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-07 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10754154
• 关键词: Acceleration; Area; Basic Science; Blood Vessels; Brain; Caring; Clinical; Clinical Sciences; Clinical Trials; Collaborations; Communities; Dermatology; Disease; Equity; Event; Eye; Family; Foundations; Functional disorder; Funding; GNAQ gene; Generations; Hospitals; Individual; International; Mental Health; Molecular; Motivation; Neurocutaneous Syndromes; Neurology; North Carolina; Ophthalmology; Outcome; Participant; Patient Care; Patients; Physicians; Problem Solving; Protocols documentation; Published Comment; Research; Research Personnel; Resources; Scientist; Seasons; Seizures; Services; Site; Skin; Sturge-Weber Syndrome; Symptoms; Syndrome; System; Translating; Translational Research; Travel; Update; Work; chronic pain; clinical care; clinically relevant; design; experience; improved; malformation; meetings; mosaic variant; neurovascular; next generation; outreach; posters; programs; rare genetic disorder; recruit; response; symposium; translational goal

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.

项目概要/摘要 Sturge-Weber 基金会 (SWF) 正在为 2023 年召开的一次会议申​​请资金，该会议的临床研究 与基础科学研究会议以新形式结合，加快推进 Sturge-Weber 社区转化研究的步伐 会议的主题是。 本次会议将汇聚“将转化科学推向临床领域”。 不同的参与者群体翻译有关斯特奇-韦伯的最新研究成果 综合征 (SWS) 进入新的临床试验 本次会议上次于 2022 年作为两次单独举行。 活动，2023 年的计划旨在将成熟的和初级的聚集在一起 研究人员和忠诚者以及研究和治疗的不同专家小组 SWS 会议期间的活动将旨在最大限度地提高高层之间的互动。 和初级研究人员，以帮助鼓励新一代医生和科学家 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 基因体细胞嵌合突变引起，其特征是血管 大脑、皮肤和眼睛的畸形，导致一系列症状，包括癫痫发作 尽管接受了治疗，许多患有 SWS 的人仍然会经历慢性疼痛。 SWF 为他们日常生活中的重大挑战提供支持和资源。 与 SWS 一起居住的个人及其家人 2023 年会议将在万豪酒店举行。 位于北卡罗来纳州教堂山的庭院，适合所有人出行，交通便利且价格实惠。 我们的与会者，我们计划为年轻科学家和医生提供旅行津贴 我们希望在会上进行讨论和演示，努力为所有人建立一个公平的计划。 这次会议将增进我们对斯特奇背后分子机制的理解 韦伯综合征并为开发该疾病的新疗法奠定了基础。 会议的海报会议和与会者之间的其他非正式互动也将 促进该领域的合作并推进研究。