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）核心的目的是促进人类表型卓越， 以促进智力和发育障碍研究（IDD）的核心使命。 爱因斯坦/蒙特菲奥尔校园的调查人员跨学科团队。为此，HCP提供了 IDDRC研究人员的招聘和复杂的人类表型服务（AIM 1）。 HCP 实施广泛的社区外展和招聘计划，以增加研究的多样性 智力和发育障碍，并使当地儿童了解科学与研究的奇观 （目标2）。 HCP维持了潜在的研究参与者的广泛而积极增长的数据库 除了包括参与者特征以及临床和认知评估结果外，还记录 该参与者的神经影像学数据和遗传学样本的存在（AIM 3）。此数据库用于 降低调查人员的招聘和表型成本，减轻家庭的参与燃烧，以及 最大程度地减少不同研究小组之间的冗余测试工作。取消识别的参与者信息是 通过此集中式数据库，IDDRC调查人员很容易获得。 HCP还提供IDDRC 成员访问最先进的人类神经影像资源（AIM 4）并参与发展 下一代表型工具（目标5）。 HCP积极传播研究结果和 有关正在进行的当地社区正在进行的研究项目的信息，以及有关HCP Core的信息 与爱因斯坦/蒙特菲奥雷研究人员和临床医生合作的资源和机会（AIM 6）。 自10年前就职典礼以来，HCP已成为人类IDD工作不可或缺的一部分 爱因斯坦/蒙特菲尔。例如，爱因斯坦在“自闭症卓越网络中心”中的作用至关重要 关于非洲血统个体自闭症遗传学的项目（MH100027），这对一个人至关重要 临床研究伙伴关系的数量，包括基本的神经科学-HCP合作，导致了 新型IDD综合征（ANKS1B单倍症综合征）的鉴定。在P50下，HCP将 继续支持这些交织的旨在促进RFK IDDRC的使命，以推进诊断， 预防和治疗IDD的儿童。此外，它将服务于建议的IDDRC签名 通过生成受KDM5C突变影响的个体的研究数据库（AIM 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 谁全面的人类表型是理解其工作含义的关键。