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（出生）障碍，该障碍是由第六和第七颅神经的部分或完全没有，它控制了眼睛运动和面部表达。 Moebius综合征的个体没有面部表情（不能微笑），几乎没有眼睛运动，有时四肢发育不足。 Moebius的原因尚不清楚，但怀疑遗传性，致畸（有害物质）和可能导致Moebius综合征的环境因素。 Moebius是一种复杂的疾病，其治疗涉及神经病学，眼科，牙科，遗传学，流行病学，毒理学，重建性手术，发育性儿科，精神病学以及身体，职业，职业和言语治疗的医学学科。 作为一种触及许多医学学科的极为罕见的疾病，Moebius综合征目前并未受益于致力于研究这种疾病的凝聚力，多学科科学界。 该项目的目的是召集有史以来第一次关于Moebius综合征的科学会议，该会议将汇集参与研究世界各地Moebius综合征许多方面的主要研究人员。 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）中的科学状态； 刺激跨学科研究，并在参与与Moebius综合征有关的基础和临床研究的多样化科学社区中建立了一个感兴趣的社区。 会议的结果将是建立明确的程序来完成以下基本任务：开发和标准化：Moebius综合征的公认诊断标准； 检查Moebius综合征患者的临床指标； Moebius综合征患者的流行病学问卷； Moebius综合征研究的临床和流行病学数据库； 确定可能有助于Moebius综合征病因的环境因素/致毒剂/基因的方法论。 会议的主要结果措施将是在同行评审期刊上发表并发表一份报告，该报告是一份确定的文件，描述了主要科学学科的Moebius综合征的当前知识状态，并概述了未来的研究优先事项。 Moebius综合征的科学会议致力于为Moebius综合征提供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Moebius综合征的原因，这些知识将增强Moebius综合征和患有其他形式的面部麻痹和其他神经退行性疾病的人的公共卫生和患者治疗。