Human Clinical Phenotyping (HCP) Core

摘要 人类临床表型核心（Core B，HCP）的目标是促进人类临床表型的卓越性。 表型分析，其中心使命是促进智力和发育残疾研究 Einstein/Montefiore校区的多元化跨学科研究团队。为此目的 HCP为IDDRC研究者提供招募和复杂的人类表型分析服务（目标1）。的 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，让当地儿童接触科学的奇迹， 研究（目标2）。HCP维护着一个广泛且不断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和临床和认知 评估结果，记录该参与者的神经成像数据和遗传学样本的存在（目的 4）。该数据库用于降低研究者的招募和表型分析成本，减轻研究者的负担， 家庭的参与，并尽量减少不同研究小组之间的冗余测试工作。去识别 IDDRC的调查人员可以通过这个中央数据库随时获得参与者的信息。的HCP 还为IDDRC成员提供最先进的人类神经影像资源（目标5），并参与 下一代表型分析工具的开发（目标6）。自5年前成立以来，HCP 已经成为爱因斯坦/蒙特菲奥里人类IDD工作的一个组成部分。例如，必须 爱因斯坦在关于非洲自闭症遗传学的“自闭症卓越中心网络”项目中的作用 美国人（ACE，P50，MH 100027），在最近启动的随机临床试验测试中起着关键作用 两种行为干预措施对ASD的功效（R 01 HD 082814），并且对许多临床至关重要- 研究伙伴关系（包括RETT综合征和C型NPC疾病）。在接下来的5年里，HCP 我将继续支持这些相互交织的目标，以促进肯尼迪国际民主与发展中心的使命， 诊断、预防和治疗儿童IDDs。此外，该中心亦会为建议中的非洲发展问题国际会议中心提供服务 通过招募22q11.2缺失综合征参与者并进行表型分析（Aim 7）。通过这些 旨在HCP将保持其作为各种中心研究者的中心枢纽的角色， 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.