HUMAN CLINICAL PHENOTYPING CORE

项目摘要/摘要(核心B：人类临床表型核心--HCP) 人类临床表型(HCP)核心的目标是促进人类表型的卓越， 其中心使命是促进不同组织对智力和发育障碍(IDDS)的研究 爱因斯坦/蒙特菲奥雷校区的跨学科调查团队。为此，HCP提供了 为刚果民主共和国调查人员提供招聘和复杂的人类表型鉴定服务(目标1)。《平价医疗》 实施广泛的社区外展和招募计划，以增加研究的多样性 并使当地儿童接触到科学和研究的奇迹 (目标2)。HCP维护着一个广泛的、正在积极增长的潜在研究参与者数据库 除了包括参与者特征以及临床和认知评估结果外，记录 该参与者的神经成像数据和遗传学样本的存在(目标3)。该数据库用于 减少调查人员的招募和表型鉴定费用，减轻家庭的参与负担，以及 最大限度地减少不同研究小组之间的重复测试工作。未确认身份的参与者信息为 IDDRC调查人员可通过这一中央数据库随时查阅。HCP还提供IDDRC 成员获得最先进的人类神经成像资源(目标4)并参与开发 下一代表型分析工具(目标5)。卫生与公众服务部积极传播研究成果和 向当地社区提供有关正在进行的研究项目的信息，以及关于HCP Core的信息 向爱因斯坦/蒙特菲奥雷研究人员和临床医生提供合作的资源和机会(目标6)。 自10年前成立以来，HCP已成为人类IDD工作不可或缺的一部分 爱因斯坦/蒙特菲奥雷。例如，这对爱因斯坦在“自闭症卓越中心网络”中的角色至关重要。 关于非洲人后裔自闭症遗传学的项目(MH100027)，它对 临床研究伙伴关系的数量，包括基础神经科学-HCP合作，导致了 一种新的IDD综合征(ANKS1B单倍体功能不全综合征)的鉴定根据P50，HCP将 继续支持这些相互交织的目标，以促进肯尼迪国际发展研究中心推进诊断的使命， IDDS儿童的预防和治疗。此外，它还将提供拟议的IDDRC签名 研究项目，建立一个受KDM5C突变影响的个人研究数据库(目标7)。 通过这些目标，HCP将保持其作为各种中心调查人员的中心枢纽的作用 世卫组织全面的人类表型分析是理解其工作意义的关键。

PROJECT SUMMARY/ABSTRACT (CORE B: HUMAN CLINICAL PHENOTYPING CORE – HCP) The objective of the Human Clinical Phenotyping (HCP) Core is to promote excellence in human phenotyping, with a central mission to facilitate research on intellectual and developmental disabilities (IDDs) by a diverse interdisciplinary team of investigators across the Einstein/Montefiore campuses. To this end the HCP provides recruitment and sophisticated human phenotyping services for IDDRC investigators (Aim 1). The HCP implements an extensive program of community outreach and recruitment to increase diversity in research on intellectual and developmental disabilities and expose local children to the wonders of science and research (Aim 2). The HCP maintains an extensive and actively growing database of potential research participants that, in addition to including participant characteristics and clinical and cognitive assessment results, records the presence of neuroimaging data and genetics samples for that participant (Aim 3). This database serves to reduce recruitment and phenotyping costs for investigators, ease the burden of participation for families, and minimize redundant testing efforts across different research groups. De-identified participant information is readily available to IDDRC investigators through this centralized database. The HCP also provides IDDRC members access to state-of-the-art human neuroimaging resources (Aim 4) and engages in the development of next-generation phenotyping tools (Aim 5). The HCP actively disseminates research findings and information about ongoing research projects to the local community, and information about HCP Core resources and opportunities for collaboration to the Einstein/Montefiore researchers and clinicians (Aim 6). Since its inauguration 10-years ago, the HCP has become an integral part of human IDD work at Einstein/Montefiore. For example, it is essential to Einstein’s role in an ‘Autism Centers of Excellence Network’ project on the genetics of autism in individuals of African descent (MH100027), and it has been vital to a number of clinical-research partnerships including a basic neuroscience-HCP collaboration that led to the identification of a novel IDD syndrome (ANKS1B haploinsufficiency syndrome). Under the P50 the HCP will continue to support these interwoven aims to promote the mission of the RFK IDDRC to advance diagnosis, prevention, and treatment of children with IDDs. In addition, it will serve the proposed IDDRC signature Research Project by generating a research database of individuals affected by KDM5C mutations (Aim 7). Through these aims the HCP will maintain its role as the central hub for a variety of Center investigators for whom comprehensive human phenotyping is key to understanding the implications of their work.