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
基本信息
- 批准号:10754154
- 负责人:
- 金额:$ 1.64万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 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:
- 关键词:AccelerationAreaBasic ScienceBlood VesselsBrainCaringClinicalClinical SciencesClinical TrialsCollaborationsCommunitiesDermatologyDiseaseEquityEventEyeFamilyFoundationsFunctional disorderFundingGNAQ geneGenerationsHospitalsIndividualInternationalMental HealthMolecularMotivationNeurocutaneous SyndromesNeurologyNorth CarolinaOphthalmologyOutcomeParticipantPatient CarePatientsPhysiciansProblem SolvingProtocols documentationPublished CommentResearchResearch PersonnelResourcesScientistSeasonsSeizuresServicesSiteSkinSturge-Weber SyndromeSymptomsSyndromeSystemTranslatingTranslational ResearchTravelUpdateWorkchronic painclinical careclinically relevantdesignexperienceimprovedmalformationmeetingsmosaic variantneurovascularnext generationoutreachpostersprogramsrare genetic disorderrecruitresponsesymposiumtranslational goal
项目摘要
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
斯特奇-韦伯基金会(SWF)正在为2023年的一次会议申请资金,该会议将在
和基础科学研究会议将以新的形式结合起来,加快
斯特奇-韦伯社区的翻译研究速度。会议的主题是
“推动转化科学进入临床领域”。这次会议将把
一组不同的参与者翻译关于斯特奇-韦伯的最新研究成果
综合症(SWS)进入新的临床试验。这次会议上一次是在2022年举行的,当时两个独立的
活动,2023年的计划旨在将老牌和初级
研究人员和临床医生以及不同的专家小组在研究和治疗
SWS.会议期间的活动将被设计为最大限度地促进高级官员之间的互动
和初级调查人员,以帮助鼓励新一代医生和科学家
研究系统性红斑狼疮及相关神经血管疾病。系统性红斑狼疮是一种罕见的神经皮肤病。
由GNAQ基因的体细胞马赛克突变引起,其特征是血管
大脑、皮肤和眼睛畸形,导致一系列症状,包括癫痫发作
和慢性疼痛。尽管接受了治疗,许多SWS患者仍继续经历
他们在日常生活中面临的重大挑战。主权财富基金提供支持和资源,以
患有系统性红斑狼疮的个人及其家人。2023年会议将在万豪酒店举行
北卡罗来纳州教堂山的庭院。这个网站对所有人来说都是方便和实惠的旅行
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程序。我们期待在会议上的讨论和介绍
这次会议将提高我们对斯特奇背后的分子机制的理解-
并为开发治疗该疾病的新疗法奠定了基础。这个
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推进研究。
项目成果
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