Alzheimer's Disease Sequencing Project Phenotype Harmonization Consortium

阿尔茨海默病测序项目表型协调联盟

基本信息

批准号：
10332468
负责人：
MICHAEL L CUCCARO
金额：
$ 683.51万
依托单位：
VANDERBILT UNIVERSITY MEDICAL CENTER
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：
2021-09-30 至 2026-08-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10332468
关键词：
Address Agreement Alzheimer&apos s Disease Alzheimer&apos s disease related dementia Alzheimer’s disease biomarker Amyloidosis Artificial Intelligence Automobile Driving Autopsy Award Big Data Methods Biological Biological Markers Catalogs Cerebrovascular Disorders Cerebrovascular Trauma Clinical Clinical Data Cognitive Cohort Studies Collaborations Communities Complex Data Data Set Data Storage and Retrieval Diffusion Magnetic Resonance Imaging Disease Documentation Educational workshop Ensure FAIR principles Foundations Future Genes Genetic Genome Genomics Goals Impaired cognition Individual Infrastructure Injury Letters Liquid substance Machine Learning Magnetic Resonance Imaging Measures Metadata Mission Modernization Movement Nerve Degeneration Neuropsychology Participant Pathologic Pathway interactions Phenotype Positron-Emission Tomography Procedures Protocols documentation Research Research Personnel Resources Risk Site Statistical Methods Symptoms Therapeutic Intervention Time Trans-Omics for Precision Medicine United States National Institutes of Health Work case control central database cognitive performance cohort data access data dissemination data harmonization data repository dementia risk endophenotype epidemiologic data genetic architecture gray matter in vivo multidisciplinary neuroimaging neuroimaging marker neuropathology new therapeutic target novel online tutorial resilience response therapeutic target tool vascular contributions vascular risk factor web portal

项目摘要

Abstract In response to PAR-20-099 “Harmonization of Alzheimer’s Disease and Related Dementias (AD/RD) Genetic, Epidemiologic, and Clinical Data to Enhance Therapeutic Target Discovery”, we have assembled a multidisciplinary team that includes experts in neuroimaging, neuropsychology, fluid biomarkers, neuropathology, and vascular contributions to ADRD to work in close partnership with the NIH and the Alzheimer’s Disease Sequencing Project (ADSP). Our ADSP Phenotype Harmonization Consortium, or “ADSP-PHC”, seeks to work in coordination with existing ADSP workgroups and initiatives to (1) streamline access to endophenotype data, (2) provide high quality endophenotype harmonization across multiple research domains, and (3) provide comprehensive documentation of both data availability and harmonization procedures. This project includes two coordinating centers, three cores, and eight domain- specific harmonization teams led by world-renowned experts in their fields. While our efforts will focus on data access, documentation, and harmonization, we will work closely with other ADSP workgroups and other large-scale harmonization efforts to maximize the impact and align with NIH priorities. In particular, we will focus harmonization on ADRD-related endophenotypes, including cognitive scores derived from detailed neuropsychological assessments, measures of neuropathology measured both ex vivo (neuropathological assessment at autopsy) and in vivo (fluid biomarkers and positron emission tomography biomarkers), concomitant pathways of injury (vascular risk factors and vascular brain injury), and measures of neurodegeneration focusing on both white (diffusion-weighted MRI) and grey matter (T1-weighted MRI). The proposed harmonization effort will provide an unprecedented opportunity to disentangle the genetic architecture of individual biological contributors to ADRD risk and progression. The harmonized data, protocols, and educational tools developed by the ADSP-PHC will transform the ADRD landscape, accelerate discovery, and facilitate the application of emerging big data analytic approaches leveraging machine learning and artificial intelligence.

抽象的响应 PAR-20-099“阿尔茨海默病和相关痴呆症的协调（AD/RD）遗传、流行病学和临床数据，以增强治疗靶点发现”，我们组建了一个多学科团队，其中包括神经影像学专家，神经心理学、液体生物标志物、神经病理学和血管对 ADRD 发挥作用的贡献与 NIH 和阿尔茨海默病测序项目 (ADSP) 密切合作。 ADSP 表型协调联盟（ADSP-PHC）寻求协调工作与现有的 ADSP 工作组和倡议合作，以 (1) 简化对内表型数据的访问， (2) 跨多个研究领域提供高质量的内表型协调，以及 (3) 提供数据可用性和协调性的全面文档该项目包括两个协调中心、三个核心和八个领域。由各自领域的世界知名专家领导的具体协调团队，而我们的努力将是。专注于数据访问、文档记录和协调，我们将与其他 ADSP 密切合作工作组和其他大规模协调工作，以最大限度地发挥影响并与特别是，我们将重点关注与 ADRD 相关的内表型的协调，包括从详细的神经心理学评估中得出的认知分数、神经病理学测量离体（尸检时的神经病理学评估）和体内（液体生物标志物和正电子发射断层扫描生物标志物），伴随途径损伤（血管危险因素和血管性脑损伤）和神经变性的测量重点关注白质（弥散加权 MRI）和灰质（T1 加权 MRI）。拟议的协调努力将提供前所未有的机会来理清 ADRD 风险和进展的个体生物学贡献者的遗传结构。 ADSP-PHC 开发的统一数据、协议和教育工具将发生转变 ADRD 格局，加速发现，促进新兴大数据的应用利用机器学习和人工智能的分析方法。