Genetics Core

遗传学核心

• 批准号: 10413100
• 负责人: Christiane Reitz
• 金额: $ 17.22万
• 依托单位: COLUMBIA UNIVERSITY HEALTH SCIENCES
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-06-15 至 2025-04-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10413100
• 关键词: Address; Alzheimer' s Disease; Amyloid; Bioinformatics; Biological Markers; Cholesterol; Cholesterol Homeostasis; Collection; Data; Data Analyses; Data Set; Data Storage and Retrieval; Databases; Dementia; Environment; Family; Funding; Generations; Genetic; Genetic Counseling; Genetic Databases; Genetic Materials; Genetic Research; Genetic Variation; Genetic study; Genotype; Heterogeneity; Human Genetics; Immune response; Individual; Infrastructure; Laboratories; Libraries; Link; Maps; Methods; Nerve Degeneration; Pathway interactions; Patients; Phenotype; Preparation; Process; Research; Research Design; Research Personnel; Resources; Risk; Sampling; Sequence Analysis; Site; Support Groups; Targeted Research; Training; Training and Education; Universities; Variant; Vertebral column; Vision; Work; biobank; clinical database; cohort; data management; endophenotype; experience; genetic analysis; genetic association; genetic epidemiology; genetic resource; genome wide association study; genomic data; large scale data; neuroimmunology; neuropathology; next generation sequencing; precision medicine; repository; tau Proteins; trafficking; transcriptome sequencing; undergraduate education

GENETICS CORE PROJECT SUMMARY/ABSTRACT This new application will build on our work of the two previous funding cycles in which we established the Human Genetics Core (HGC) as an essential part of the Columbia ADRC. The HGC provides a centralized resource for the organization and analysis of genetic data within the ADRC and projects affiliated with the ADRC at Columbia University by providing the full physical and intellectual infrastructure needed to coordinate genetic research efforts and provide a platform for investigators to create a better understanding of genotype-phenotype relationships for dementia and related endophenotypes. Specifically, the HGC will: (1) provide a genetic material repository to process, extract, store and distribute genetic material from patients and controls, and track the collection and usage of genetic material; (2) provide a genetic database for storage, handling, preparation and distribution of genomic data from ADRC subjects and large-scale datasets available to the ADRC; (3) provide a high-end cluster environment and analytical support in statistical genetics and bioinformatics to facilitate genomic data analysis; (4) provide genetic counseling to patients and their families participating in the ADRC and ADRC affiliated studies; and (5) extend the large-scale genomic data available on this ADRC sample (ie. GWAS, WGS/WES, eQTL maps), and comprehensively characterize subjects for genetic variation in the amyloid, tau, immune response, cholesterol and endosomal trafficking pathways. In line with our vision for precision medicine, this characterization will move us forward to i) provide investigators with a backbone for more targeted research informed by genetic background, ii) disentangle potential pathophysiologic heterogeneity in this cohort, and iii) explore a variety of critical questions addressing the Thematic Aim by integration with the extensive translational data generated by the Neuropathology, Biomarker and Neuroimmunology Cores.

遗传学核心项目摘要/摘要 这个新应用将建立在我们建立人类的两个资金周期的工作的基础上 遗传学核心（HGC）是哥伦比亚ADRC的重要组成部分。 HGC为 ADRC内的遗传数据的组织和分析以及哥伦比亚ADRC隶属的项目 大学通过提供协调遗传研究所需的全部物理和智力基础设施 努力并为调查人员提供了一个平台，以更好地了解基因型 - 表型 痴呆症和相关内表型的关系。 具体而言，HGC将：（1）提供一个遗传材料存储库来处理，提取，存储和分发 来自患者和对照的遗传物质，并跟踪遗传物质的收集和使用； （2）提供 一个用于存储，处理，准备和分布基因组数据的遗传数据库 和ADRC可用的大规模数据集； （3）提供高端集群环境和分析 支持统计遗传学和生物信息学以促进基因组数据分析； （4）提供遗传 向参加ADRC和ADRC附属研究的患者及其家人的咨询； （5）扩展 此ADRC样本（即GWAS，WGS/WES，EQTL地图）和 全面地表征了淀粉样蛋白，TAU，免疫反应，胆固醇的遗传变异的受试者 和内体贩运途径。符合我们对精确医学的愿景，这种特征将移动 我们向前i）为调查人员提供骨干，以提供遗传学的更多针对性研究 背景，ii）在该队列中解散潜在的病理生理异质性，iii）探索各种 通过与由广泛的翻译数据集成而生成的广泛的翻译数据来解决主题目标的关键问题 神经病理学，生物标志物和神经免疫学核心。