Human Clinical Phenotyping (HCP) Core

摘要 人类临床表型核心(核心B，HCP)的目标是促进人类的卓越 表型鉴定，中心任务是促进智力和发育障碍(IDDS)的研究 由爱因斯坦/蒙特菲奥雷校园内不同学科的调查团队组成。为此， HCP为IDDRC调查员提供招聘和复杂的人类表型鉴定服务(目标1)。这个 HCP实施了广泛的社区外展和招募计划，以增加 研究智力和发育障碍，并让当地儿童接触到科学和 研究(目标2)。HCP维护着一个广泛的、正在积极增长的潜在研究数据库 参与者(目标3)，除了包括参与者的特征以及临床和认知 评估结果，记录该参与者的神经成像数据和遗传样本的存在(目标 4)。该数据库有助于降低调查人员的招聘和表型成本，减轻 让家庭参与，并最大限度地减少不同研究小组之间的多余测试工作。未识别 IDDRC调查人员可以通过这个中央数据库随时获得参与者信息。《平价医疗》 还为IDDRC成员提供最先进的人类神经成像资源(AIM 5)，并参与 参与下一代表型工具的开发(目标6)。自五年前成立以来，HCP 已经成为爱因斯坦/蒙特菲奥里人类IDD工作不可或缺的一部分。例如，它是必不可少的 爱因斯坦在非洲自闭症遗传学“自闭症卓越中心网络”项目中的作用 美国人(ACE，P50，MH100027)在最近启动的一项随机临床试验测试中发挥了关键作用 两种行为干预对ASD的疗效(R01 HD082814)，并对许多临床- 研究伙伴关系(包括Rett综合征和NPC C型疾病)。在接下来的5年里， 将继续支持这些相互交织的目标，以推动肯尼迪国际发展中心的使命向前推进 儿童IDDS的诊断、预防和治疗。此外，它还将为拟议的国际发展研究中心提供服务。 招募22q11.2缺失综合征参与者并对其进行表型分析的研究项目(目标7)。通过这些 AIMS HCP将保持其作为各种中心调查人员的中心枢纽的作用 全面的人类表型分析是理解他们工作意义的关键。

ABSTRACT The objective of the Human Clinical Phenotyping Core (Core B, HCP) 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 (Aim 3) 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 4). 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 5) and engages in the development of next-generation phenotyping tools (Aim 6). Since its inauguration 5-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 African Americans (ACE, P50, MH100027), plays a key role in a recently initiated randomized clinical trial testing efficacy of two behavioral interventions on ASD (R01 HD082814), and has been vital to a number of clinical- research partnerships (including on RETT syndrome and NPC type C disease). Over the next 5-years 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 research project by recruiting and phenotyping 22q11.2 deletion syndrome participants (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.