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中文摘要
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项目总结 行政(行政)核心将提供研究和后勤监督,并促进沟通 年预期遗传风险评估和评估(进展)的项目和核心中 自闭症中心。管理核心的目标是培育一个进步中心环境,允许 补充和协同执行拟议的多学科研究,以确定和合作 对于孩子有自闭症遗传风险(IGR)的家庭队列(项目1),了解 这种遗传信息对父母和家庭的影响(项目2),并检查神经行为轨迹 将儿童纳入各个发展阶段的进展队列(项目3)。除了支持这三个项目外, 管理核心将支持其他核心组成部分:评估核心、统计和 计算分析(SCA)核心,以及传播和推广(D&O)核心。管理核心将 有三个主要功能。第一个职能是科学领导和整合,提供纲领性的 治理以最大限度地提高我们研究的协同效应、效率和影响。管理核心领导层是 由执行委员会(中心主任和联席主任、业务主任、 财务和计划协调员)和指导委员会(所有项目和核心领导及联合领导)。 行政核心职能包括中心研究项目和核心的方案协调、战略 短期和长期目标的规划,以及对我们基因组研究的影响的伦理考虑。 其次,管理核心将提供管理,以提供集中的行政、财务、 进度中心的组织、沟通协调。这些项目和核心跨越了 哥伦比亚大学、纽约州精神病研究所和威尔·康奈尔医学中心,因此需要 将通过机构间协调和沟通提供的中央治理和组织 由管理核心提供。最后,行政核心将确保进展的附加值和科学严谨性 通过中心评估对研究项目和核心进行中心评估。管理核心将与 自闭症研究相关领域的专家组成的外部咨询委员会(EAC)。管理核心将响应 根据选管会的建议和社区谘询委员会的建议 (CAB)解决科学和社区关注的问题,并增加进步中心的国家和全球 对科学和临床实践的影响。因此,管理核心将提供 多个站点的各种进度中心组件,以生成高质量和有意义的数据,这些数据将 帮助及早识别和管理已确定的导致自闭症的遗传风险。
英文摘要
PROJECT SUMMARY The Administrative (Admin) Core will provide research and logistical oversight and facilitate communication among the Projects and Cores of the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center. The Admin Core’s goal is to foster a PROGRESS Center environment that allows for the complementary and synergistic execution of the proposed multidisciplinary research that will identify and partner with a cohort of families whose children are at identified genetic risk (IGR) for autism (Project 1), understand the impact of this genetic information on parents and families (Project 2), and examine neurobehavioral trajectories of PROGRESS Cohort children across development (Project 3). In addition to supporting these three Projects, the Admin Core will support the other Core Components: the Assessment Core, the Statistical and Computational Analysis (SCA) Core, and the Dissemination and Outreach (D&O) Core. The Admin Core will have three main functions. The first function is scientific leadership and integration, providing programmatic governance to maximize synergy, efficiency and impact of our research. The Admin Core leadership is composed of the Executive Committee (Center Director and Co-Director, Director of Operations, Director of Finance, and a Program Coordinator) and a Steering Committee (all Project and Core Leads and Co-Leads). Admin Core function includes programmatic coordination of the Center Research Projects and Cores, strategic planning of short- and long-term goals, and ethical considerations of the implications of our genomic research. Secondly, the Admin Core will provide management to deliver centralized administrative, fiscal, organizational, and communications coordination of the PROGRESS Center. The Projects and Cores span Columbia University, the New York State Psychiatric Institute, and Weill Cornell Medical Center, thus requiring central governance and organization that will be provided by inter-institutional coordination and communication by the Admin Core. Finally, the Admin Core will ensure added value and scientific rigor of the PROGRESS Center Research Projects and Cores through Center Evaluation. The Admin Core will interface with an External Advisory Committee (EAC) of experts in fields relevant to autism research. The Admin Core will respond to recommendations made by the EAC, as well as recommendations made by a Community Advisory Board (CAB) to address scientific and community concerns and increase the PROGRESS Center’s national and global influence on scientific and clinical practice. The Admin Core will therefore provide seamless integration of the various PROGRESS Center Components at multiple sites to produce high quality and meaningful data that will aid in early identification and management of identified genetic risk for developing autism.
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Fair Phenotype Annotation and Genomic Reinterpretation
Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism
Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism
Project 1: Identifying and optimizing monogenetic risk prediction for autism in newborns