HUMAN CLINICAL PHENOTYPING CORE

人类临床表型分析核心

基本信息

批准号：
10239749
负责人：
SOPHIE MOLHOLM
金额：
$ 16.67万
依托单位：
ALBERT EINSTEIN COLLEGE OF MEDICINE
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-07-23 至 2026-05-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10239749
关键词：
Advertisements Affect African African Caribbean Attention deficit hyperactivity disorder Brain imaging Catchment Area Characteristics Child Clinic Clinical Clinical Research Clinical assessments Collaborations Communities Community Outreach Community Relations Cost effectiveness research Data Data Analyses Databases Development Developmental Disabilities Diagnosis Diagnostic Enrollment Ensure Exposure to Family Fostering Functional disorder Funding Genetic Human Human Resources Imaging Techniques Individual Intellectual and Developmental Disabilities Research Centers Intellectual functioning disability Interview Latinx Magnetic Resonance Imaging Maintenance Measures Medical Records Melissa Methods Minority Minority Groups Mission Motor Mutation Neurologic Neurosciences Newspapers Outcome Measure Parents Participant Patient Recruitments Phenotype Play Population Population Heterogeneity Prevention Psychologist Records Registries Research Research Personnel Research Project Grants Resources Role Running Sampling Science Scientist Sensory Services Spectrum Analysis Sum Syndrome TNFRSF5 gene Telephone Testing Underrepresented Minority Work autism spectrum disorder central database clinical Diagnosis clinical center clinical phenotype cognitive function cognitive testing cost data acquisition developmental disease ethnic diversity follow-up imaging facilities indexing interest member neurogenomics neuroimaging neuropsychiatric disorder next generation novel outreach programs recruit searchable database skills teacher tool underserved minority virtual

项目摘要

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.

项目概要/摘要（核心 B：人类临床表型核心 - HCP）人类临床表型分析 (HCP) 核心的目标是促进人类表型分析的卓越发展，其核心使命是促进不同群体对智力和发育障碍 (IDD) 的研究为此，HCP 提供了由爱因斯坦/蒙蒂菲奥里校区的跨学科研究人员组成的团队。为 IDDRC 研究人员招募和复杂的人类表型分析服务（目标 1）。实施广泛的社区外展和招募计划，以增加研究的多样性智力和发育障碍，让当地儿童接触科学和研究的奇迹（目标 2）。HCP 维护着一个广泛且不断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之外，还记录该参与者的神经影像数据和遗传学样本的存在（目标 3）。减少调查人员的招募和表型分析成本，减轻家庭参与的负担，以及最大限度地减少不同研究小组之间的冗余测试工作。 IDDRC 调查人员可以通过该集中数据库轻松获取 IDDRC。成员获得最先进的人类神经影像资源（目标 4）并参与开发下一代表型分析工具的开发（目标 5）。有关当地社区正在进行的研究项目的信息，以及有关 HCP 核心的信息为爱因斯坦/蒙蒂菲奥里研究人员和信徒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 工作中不可或缺的一部分。例如，爱因斯坦/蒙蒂菲奥里，这对于爱因斯坦在“自闭症卓越中心网络”中的作用至关重要。关于非洲人后裔的自闭症遗传学项目（MH100027），它对于许多临床研究合作伙伴关系，包括基础神经科学与 HCP 的合作，该合作导致了在 P50 下，HCP 将识别一种新型 IDD 综合征（ANKS1B 单倍体不足综合征）。继续支持这些相互交织的目标，以促进 RFK IDDRC 推进诊断的使命，此外，它将服务于拟议的 IDDRC 签名。研究项目通过生成受 KDM5C 突变影响的个体的研究数据库（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，全面的人类表型分析是理解其工作意义的关键。