Core G: Genetics and Molecular Profiling

核心 G：遗传学和分子分析

• 批准号: 10468312
• 负责人: Lindsay A. Farrer
• 金额: $ 45.3万
• 依托单位: BOSTON UNIVERSITY MEDICAL CAMPUS
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-08-15 至 2026-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10468312
• 关键词: Alzheimer' s Disease; Alzheimer' s disease related dementia; Alzheimer' s disease risk; Area; Behavior; Biocompatible Materials; Bioinformatics; Biological; Biological Markers; Biology; Blood; Boston; Brain; Cell Nucleus; Clinical; Clinical Trials; Collaborations; Collection; Communities; Complex; Core Facility; DNA; DNA Sequence; Data; Data Analyses; Data Set; Database Management Systems; Databases; Dementia; Diagnosis; Disease; Drug Targeting; Early Diagnosis; Early treatment; Epigenetic Process; Etiology; Foundations; Generations; Genetic; Genetic Diseases; Genetic Materials; Genetic Research; Genomics; Genotype; Goals; Heterogeneity; Individual; Infrastructure; Investigator-Initiated Research; Knowledge; Laboratories; Libraries; Link; Malignant Neoplasms; Management Information Systems; Methods; MicroRNAs; Molecular; Molecular Genetics; Molecular Profiling; Participant; Pathway interactions; Phenotype; Process; RNA; RNA Sequences; Research; Research Design; Research Personnel; Research Project Grants; Resources; Risk Factors; Saliva; Sampling; Specimen; Targeted Research; Technology; Training and Education; Universities; Vertebral column; Vision; Work; analysis pipeline; biobank; clinical biomarkers; cluster computing; cohort; cost; data management; design; drug development; effective therapy; endophenotype; epigenomics; exome; expectation; genetic analysis; genetic information; genetic profiling; genetic resource; genetic risk factor; genome wide association study; genome-wide; genomic data; individualized medicine; lipidomics; methylomics; neuropathology; personalized medicine; phenotypic biomarker; precision medicine; preservation; programs; protective factors; rapid growth; repository; response; sound; statistics; transcriptomics; translational study; whole genome

Many recent advances in genetics and genomics technologies and rapid growth in knowledge of genetic risk factors for Alzheimer disease (AD) reinforce the importance of and opportunities for incorporating genetic information and designs into AD research. The Genetics & Molecular Profiling (GMP) Core will support genetics and `omics research by ADRC investigators, trainees and established investigators who are “breaking in” to AD research, and to build foundations for translational studies using ADRC resources. Given the centrality of genetics and `omics data to diverse scientific areas, unrealistic expectations that most AD researchers are capable and can afford to generate such data, and importance of avoiding costly duplicative data generation in order to preserve limited and precious specimen resources, the GMP Core will generate an array of genetic and `omic data. Although the GMP Core is a new component of the ADRC, it will build on our work of genetic and molecular characterization of BU ADC participants and other cohorts that has led to numerous important discoveries and greatly increased our understanding of mechanisms and biological pathways leading to AD. We will continue to serve as a centralized resource for the organization and analysis of genetic data within the ADRC and ADRC affiliated projects by providing an infrastructure needed to coordinate molecular research efforts that will lead to a better understanding of genotype-phenotype relationships for dementia and related endophenotypes. Specifically, the GMP Core will (1) process, extract DNA and RNA, store and distribute genetic material extracted from biological specimens (e.g., blood, brain, saliva) obtained from ADRC participants; (2) generate genome-wide array, DNA and RNA sequence, epigenetic and lipidomic data for use by ADRC and other BU investigators, as well as the scientific community; (3) track the collection and usage of genetic material; (4) manage all genetic and `omic data in collaboration with the Data Management & Statistics (DMS) Core; (5) maintain an integrated genetic and `omic database includes all genetic and `omic data generated from BU ADRC samples, as well as working libraries of extant genetic and `omic data; these data will be available with proper permissions as a resource for genetic analyses with guidance from the core investigators. The GMP Core will also facilitate access to an extensive set of genetic and genomic data from extant datasets that are available to the Core investigators including individual level and/or summarized data from the ADGC, ADSP, ADNI, AMP- AD, and UK Biobank; and (5) provide support for designing genetic and genomic studies, as well as for data analysis. In line with our vision for precision medicine, this profiling integrated with the extensive characterization performed in the Clinical, Biomarker and Neuropathology Cores will facilitate both agnostic and hypothesis- driven research. The Core will also partner with existing investigator-initiated research at Boston University (BU) and with the other Cores to strengthen existing programs and accelerate the incorporation of genetics and `omics into dementia research conducted by ADRC-affiliated as well as other BU investigators.

遗传学和基因组技术的最新进展以及遗传风险知识的快速增长 阿尔茨海默氏病（AD）的因素增强了融入遗传的重要性和机会 信息和设计进入广告研究。遗传学和分子分析（GMP）核心将支持遗传学 ADRC的研究人员，学员和已“闯入”广告的研究人员的OMICS研究 研究，并使用ADRC资源建立转化研究的基础。考虑到中心 遗传学和``omics数据over overs科学领域又对大多数广告研究人员都是不切实际的期望 有能力并且有能力产生此类数据，并避免避免昂贵的重复数据生成的重要性 为了保留有限和宝贵的标本资源，GMP核心将产生一系列遗传和 `gmic数据。尽管GMP核心是ADRC的新组成部分，但它将基于我们的遗传和 BU ADC参与者和其他队列的分子表征导致了许多重要 发现并大大增加了我们对导致AD的机制和生物学途径的理解。我们 将继续充当ADRC中遗传数据的组织和分析的集中资源 和ADRC会员项目通过提供协调分子研究工作所需的基础设施，以 将使人们更好地了解痴呆和相关的基因型 - 表型关系 Entophenotypes。特别是，GMP核心将（1）过程，提取DNA和RNA，存储和分布遗传 从ADRC参与者获得的生物标本（例如血液，脑，唾液）中提取的材料； （2） 生成全基因组阵列，DNA和RNA序列，表观遗传学和脂肪组数据，以供ADRC和 其他BU调查人员以及科学界； （3）跟踪遗传物质的收集和使用； （4）与数据管理与统计（DMS）核心合作管理所有遗传和OMIC数据； （5） 维护一个综合遗传和``OMIC数据库都包括BU ADRC生成的所有遗传和``OMIC数据 样品以及额外遗传和``imic数据''的工作库；这些数据将适当地提供 在核心研究人员的指导下，权限作为遗传分析的资源。 GMP核心将 还促进可以从现存数据集中访问一组广泛的遗传和基因组数据 核心研究人员包括来自ADGC，ADSP，ADNI，AMP-的个人级别和/或汇总数据 广告和英国生物库； （5）为设计遗传和基因组研究以及数据提供支持 分析。根据我们对精确医学的愿景，这种分析与广泛的特征集成在一起 在临床，生物标志物和神经病理学核心上进行的核心将首选不可知和假设 - 驱动的研究。核心还将与波士顿大学（BU）现有研究者发起的研究合作 并随着其他核心加强现有程序并加速遗传学和``omics'' 参与ADRC附属和其他BU研究者进行的痴呆研究。