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.

项目摘要/摘要 Sturge-Weber基金会（SWF）要求在2023年的一次会议上为临床 和基础科学研究会议将以新的格式合并，以加速 会议的主题是 “将转化科学转向临床领域”。这次会议将聚集在一起 一个参与者的潜水者小组翻译有关Sturge-Weber的最新研究结果 综合征（SWS）进入新的临床试验。这次会议最后一次于2022年举行 活动以及2023年的计划旨在将建立和初中汇集在一起 研究人员和临床医生以及潜水员小组研究和治疗 SWS。会议期间的活动将旨在最大化高级的相互作用 和初级调查人员，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是一种罕见的神经性疾病 由GNAQ基因中的体细胞镶嵌突变引起，以血管为特征 大脑，皮肤和眼睛的畸形，导致一系列症状包括癫痫发作 和慢性疼痛。尽管有治疗，许多SWS的人继续经历 日常生活中面临重大挑战。 SWF为 个人及其家人与SWS一起生活。 2023会议将在万豪酒店举行 北卡罗来纳州教堂山的庭院。这个网站方便可容纳所有人 我们的与会者，我们计划为年轻的科学家和医生提供旅行压力 努力为所有人建立公平的程序。我们期望讨论和演讲 这次会议将提高我们对Sturge-背后的分子机制的理解。 韦伯综合症并为开发该疾病的新疗法奠定了基础。 会议的海报会议和参与者之间的其他非正式互动也将 促进该领域的合作和提高研究。