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中文摘要
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项目概要 行政(Admin)核心将提供研究和后勤监督并促进沟通 前瞻性遗传风险评估(PROGRESS)的项目和核心之一 自闭症中心。管理核心的目标是培育一个进展中心环境,允许 拟议的多学科研究的互补和协同执行将确定并合作 与一组其孩子处于已确定的自闭症遗传风险 (IGR) 的家庭(项目 1)一起了解 该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 PROGRESS 队列儿童的发展历程(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件:评估核心、统计和 计算分析 (SCA) 核心以及传播和外展 (D&O) 核心。管理核心将 具有三个主要功能。第一个功能是科学领导和整合,提供程序化 治理以最大限度地发挥我们研究的协同作用、效率和影响力。管理核心领导层是 由执行委员会组成(中心主任兼联席主任、运营总监、 财务和项目协调员)和指导委员会(所有项目和核心领导者和联合领导者)。 管理核心职能包括中心研究项目和核心的计划协调、战略 短期和长期目标的规划,以及基因组研究影响的伦理考虑。 其次,管理核心将提供管理,以提供集中的行政、财务、 PROGRESS 中心的组织和沟通协调。项目和核心跨越 哥伦比亚大学、纽约州精神病学研究所和威尔康奈尔医学中心,因此要求 将通过机构间协调和沟通提供中央治理和组织 由管理核心。最后,管理核心将确保进展的附加值和科学严谨性 通过中心评估的中心研究项目和核心。管理核心将与 由自闭症研究相关领域的专家组成的外部咨询委员会(EAC)。管理核心将做出回应 选管会提出的建议以及社区咨询委员会提出的建议 (CAB) 解决科学和社区关注的问题并提高 PROGRESS 中心在国家和全球范围内的影响力 对科学和临床实践的影响。因此,管理核心将提供无缝集成 多个地点的各种进展中心组件可生成高质量且有意义的数据,这些数据将 帮助及早识别和管理已确定的自闭症遗传风险。
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