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中文摘要
翻译
人类临床表型核心(HCP)的目标是促进人类表型的卓越性,其中心任务是促进智力和发育障碍(IDD)的研究,由爱因斯坦校园内不同的跨学科研究团队进行。核心维护着一个集中的、易于搜索的、去识别的参与者数据库,供爱因斯坦研究人员访问,其中包括来自神经基因组学和转化神经成像核心的数据收集信息,并为hcp注册的参与者提供连续性,因为他们穿越不同的核心并参与研究项目。HCP对RFK-IDDRC推进发育性残疾儿童的诊断、预防和治疗的使命至关重要,并被定位为各种RFK-IDDRC研究人员的中心枢纽,对他们来说,综合表型是理解其工作意义的关键。它增加了对感兴趣人群的访问,提高了在具有良好特征的临床人群中研究工作的成本效益,并促进了具有各种互补技能和背景的研究人员之间的合作。
英文摘要
The objective of the Human Clinical Phenotyping Core (HCP) is to promote excellence in human phenotyping, with a central mission to facilitate research on intellectual and developmental disabilities (IDD) by a diverse interdisciplinary team of investigators across the Einstein campus. The Core maintains a centralized easily searchable de-identified database of participants for access by Einstein investigators that includes information about data collection from the Neurogenomics and Translational Neuroimaging Cores, and provides continuity to HCP-enrolled participants as they traverse the different Cores and engage in research projects. The HCP is essential to the mission of the RFK-IDDRC to advance diagnosis, prevention, and treatment of children with developmental disabilities, and is positioned to serve as the central hub for a variety of RFK-IDDRC investigators for whom comprehensive phenotyping is key to understanding the implications of their work. It increases access to the populations of interest, increases the cost-effectiveness of research endeavors in well-characterized clinical populations, and facilitates collaboration among researchers with varied and complementary skill-sets and backgrounds.
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SUPPORT FOR THE ROSE F KENNEDY IDDRC P50
HUMAN CLINICAL PHENOTYPING CORE
SUPPORT FOR THE ROSE F KENNEDY IDDRC P50
HUMAN CLINICAL PHENOTYPING CORE
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