HUMAN CLINICAL PHENOTYPING CORE

人类临床表型分析核心

• 批准号: 10669062
• 负责人: SOPHIE MOLHOLM
• 金额: $ 21.48万
• 依托单位: ALBERT EINSTEIN COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 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/10669062
• 关键词: Advertisements; Affect; African; African ancestry; Attention deficit hyperactivity disorder; Brain imaging; Caribbean region; 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 population; Licensing; Magnetic Resonance Imaging; Maintenance; Measures; Medical Records; Methods; Minority; Minority Groups; Minority Health Research; 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; Syndrome; Telephone; Testing; Underrepresented Minority; Work; autism spectrum disorder; central database; clinical center; clinical diagnosis; clinical phenotype; clinical translation; 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; participant enrollment; programs; recruit; remote assessment; remote grading; searchable database; skills; teacher; tool; underserved minority; virtual

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 爱因斯坦/蒙蒂菲奥里校区的跨学科研究小组。为此，HCP 提供 为 IDDRC 研究人员提供招募和复杂的人类表型分析服务（目标 1）。医疗保健计划 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）。该数据库的作用是 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。去识别化的参与者信息是 IDDRC 调查人员可以通过这个集中数据库轻松获取这些信息。 HCP 还提供 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（目标 5）。 HCP 积极传播研究成果并 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 工作中不可或缺的一部分。 爱因斯坦/蒙蒂菲奥里。例如，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 鉴定出一种新型 IDD 综合征（ANKS1B 单倍剂量不足综合征）。根据 P50，HCP 将 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， 儿童 IDD 的预防和治疗。此外，它将服务于提议的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。