Scientific Conference on Moebius Syndrome

莫比斯综合症科学会议

• 批准号: 7162885
• 负责人: Vicki McCarrell
• 金额: $ 3.6万
• 依托单位: MOEBIUS SYNDROME FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-09-01 至 2007-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7162885
• 关键词: congenital nervous system disorder; meeting /conference /symposium; travel

DESCRIPTION (provided by applicant): Moebius syndrome is a rare, congenital (present from birth) disorder defined by the partial or complete absence of the 6th and 7th cranial nerves, which control eye movements and facial expression. Individuals with Moebius Syndrome have no facial expression (cannot smile), have little or no eye movement and sometimes have underdeveloped limbs. The causes of Moebius are unclear, but there are suspected genetic, teratogenic (harmful substances) and environmental factors which may contribute to Moebius syndrome. Moebius is a complex disorder, and its treatment involves medical disciplines as diverse as neurology, ophthalmology, dentistry, genetics, epidemiology, toxicology, reconstructive surgery, developmental pediatrics, psychiatry as well as physical, occupational, and speech therapy. As an extremely rare disorder that touches many medical disciplines, Moebius syndrome does not currently benefit from a cohesive, multidisciplinary scientific community dedicated to research on this disorder. The purpose of this project is to convene the first ever Scientific Conference on Moebius Syndrome which will bring together the leading researchers involved in studying the many aspects of Moebius syndrome from around the world. The scientific goals of the conference will be to: Summarize the state of science in each relevant scientific discipline (epidemiology, genetics, etc.); Stimulate interdisciplinary research, and Establish a community of interest among the diverse scientific communities engaged in basic and clinical research related to Moebius syndrome. The outcome of the conference will be to establish clear processes for achieving the following essential tasks: To develop and standardize: The accepted diagnostic criteria of Moebius syndrome; Clinical measures for examining patients with Moebius syndrome; Epidemiologic questionnaire for patients with Moebius syndrome; Clinical and epidemiologic databases for Moebius syndrome research; Methodologies to determine environmental factors/teratogens/genes which may contribute to the etiology of Moebius syndrome. A primary outcome measure of the Conference will be to author and publish in a peer reviewed journal a report to serve as a definitive document describing the current state of knowledge of Moebius syndrome across major scientific disciplines and to outline research priorities for the future. The Scientific Conference on Moebius Syndrome is devoted to furthering research and creating a more cohesive research community for Moebius syndrome. As researchers and clinicians learn more about the causes of Moebius syndrome, this knowledge will enhance public health and patient treatment for those with Moebius syndrome and those suffering from other forms of facial palsy and other neurodegenerative disorders.

描述（由申请人提供）：Moebius综合征是一种罕见的先天性（从出生就存在）疾病，其定义为控制眼球运动和面部表情的第6和第7脑神经部分或完全缺失。 莫比乌斯综合征患者没有面部表情（不能微笑），很少或没有眼球运动，有时四肢发育不全。 Moebius综合征的病因尚不清楚，但怀疑遗传、致畸（有害物质）和环境因素可能导致Moebius综合征。 莫比乌斯是一种复杂的疾病，其治疗涉及神经病学、眼科学、牙科学、遗传学、流行病学、毒理学、重建外科学、发育儿科学、精神病学以及物理、职业和语言治疗等多种医学学科。 作为一种涉及许多医学学科的极其罕见的疾病，Moebius综合征目前并没有从致力于研究这种疾病的有凝聚力的多学科科学界中受益。 该项目的目的是召开有史以来第一次关于Moebius综合征的科学会议，将汇集来自世界各地的主要研究人员，研究Moebius综合征的许多方面。 会议的科学目标将是：总结每个相关科学学科（流行病学，遗传学等）的科学状况; 促进跨学科研究，并在从事与Moebius综合征相关的基础和临床研究的不同科学界之间建立一个利益共同体。 会议的结果将是为实现以下基本任务建立明确的程序：制定和标准化：公认的Moebius综合征诊断标准;检查Moebius综合征患者的临床措施; Moebius综合征患者的流行病学调查表; Moebius综合征研究的临床和流行病学数据库;确定可能导致Moebius综合征病因的环境因素/致畸剂/基因的方法。 会议的一个主要成果措施将是撰写一份报告并在同行评审的期刊上发表，该报告将作为一份权威文件，描述各主要科学学科对莫比乌斯综合征的了解现状，并概述未来的研究重点。 Moebius综合征科学会议致力于进一步研究，并为Moebius综合征创建一个更具凝聚力的研究社区。 随着研究人员和临床医生更多地了解莫比乌斯综合征的病因，这些知识将加强对莫比乌斯综合征患者和其他形式的面瘫和其他神经退行性疾病患者的公共卫生和患者治疗。