Genomics/Genotyping

基因组学/基因分型

• 批准号: 7916660
• 负责人: Kathleen C Barnes
• 金额: $ 30.31万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7916660
• 关键词: Acute Lung Injury; Address; Alleles; Animal Model; Antigen-Antibody Complex; Arthritis; Arts; Asthma; Atopic Dermatitis; Attention; Autoantigens; Autoimmune Process; Belief; Biological Assay; Biological Markers; Candidate Disease Gene; Cell Death; Clinical; Clinical Services; Collaborations; Communication; Complement; Complex; Computer Analysis; Contracts; Core Facility; Data; Data Analyses; Databases; Development; Diagnostic; Disease; Disease susceptibility; Electronic Mail; Ensure; Funding; Gene Cluster; Gene Expression; Gene Expression Profiling; Gene Proteins; Genes; Genetic; Genetic Medicine; Genetic Programming; Genetic Research; Genomics; Genotype; Goals; Human; Image; Immune; Immune response; Immunology; Individual; Inflammatory; Information Technology; Inherited; Institutes; Investigation; Laboratories; Life; Link; Logistics; Lupus; Maintenance; Measurement; Measures; Medical center; Medicine; Messenger RNA; Methodology; Microarray Analysis; Modeling; Molecular; Molecular Genetics; Molecular Profiling; Molecular Target; Mus; Myositis; National Heart, Lung, and Blood Institute; Occupational activity of managing finances; Oligonucleotide Microarrays; Online Systems; Patients; Pattern; Peptide Hydrolases; Phenotype; Physiological; Pilot Projects; Play; Polymorphism Analysis; Positioning Attribute; Predisposition; Preparation; Price; Proteomics; Quality Control; RNA; Rattus; Regulatory Pathway; Research; Research Design; Research Personnel; Resources; Reverse Transcriptase Polymerase Chain Reaction; Rheumatism; Rheumatoid Arthritis; Rheumatology; Role; Sampling; Scanning; Scientist; Scleroderma; Sentinel; Sepsis; Services; Severities; Single Nucleotide Polymorphism; Solutions; Specialized Center; Staining method; Stains; System; Techniques; Technology; Testing; Therapeutic; Time; Tissue Extracts; Tissue Sample; Training; Transcript; Translational Research; United States National Institutes of Health; Vaccinia; Validation; Variant; Vasculitis; Ventilator; autoimmune arthritis; base; cohort; cost; design; genetic epidemiology; genetic resource; genetic technology; genetic variant; granzyme B; high risk; human disease; human tissue; innovation; insight; killings; lung injury; meetings; member; novel; novel strategies; novel therapeutic intervention; outreach program; patient population; programs; protein expression; research facility; research study; success; systemic autoimmune disease; trait

The Genomics/Genetics Core will be responsible for providing high-throughput gene expression data, including validation of expression of select candidate genes, as well as genotyping and sequencing services, to include DMA and RNA isolation, quantification, plating and tracking, in order to achieve the overall aims of the Hopkins Rheumatic Disease Research Core Center (RDRCC). This Core will support the procurement and analysis of tissue samples from a variety of complex rheumatic disorders, including scleroderma, lupus, arthritis, and vasculitis. In genomics studies, patterns of gene expression will be analyzed within each clinical and experimental condition. This approach will allow us to determine both concordantly and discordantly regulated gene clusters, link these gene clusters with physiological measurements of traits, and determine the gene profiles responsible for the development and maintenance of well-defined phenotypes. The genetics component will facilitate the validation of the physiological importance of genes and "high risk" alleles in well-characterized cohorts, providing services that will enable Investigators to detect novel variants and to test for association of variants in candidate genes for a variety of rheumatic diseases. Through microarray analysis, we will be able to explore novel sentinel genes and regulatory pathways involved in rheumatic diseases and facilitate the selection of candidate genes for high-throughput genotyping. The Core will interact directly with Core A, which will assist the Core with financial management, integrate information technology solutions with the Core's database system, and coordinate the development of new research endeavors by individual investigators. These data will be linked through Core B for downstream functional studies of genes identified in Core C. These comprehensive human genomic studies will complement the rigorous phenotypic characterization provided by Investigators in the Research Base. Specific Aims of the Core are: 1) to provide an integrated laboratory needed to support gene expression profiling and genotyping on samples from well-characterized patients with rheumatic disorders, experiment and project management, primer and assay design, and computational/analytical activities associated with genomic and genetic data; 2) provide an efficient, cost-effective high-throughput expression profiling and genotyping service to meet the demands of diverse individual projects, including a pilot project as part of the RDRCC which aims to test for association of genetic variants in a priority candidate gene for scleroderma, granzyme B (GZMB).

基因组/遗传学核心将负责提供高通量基因表达数据， 包括验证选定候选基因的表达以及基因分型和测序服务， 包括DMA和RNA隔离，定量，电镀和跟踪，以实现总体目标 霍普金斯风湿病研究核心中心（RDRCC）。该核心将支持采购 以及分析来自多种复杂风湿病的组织样品，包括硬皮病，狼疮， 关节炎和血管炎。在基因组学研究中，将分析每个基因表达的模式 临床和实验条件。这种方法将使我们能够一致地确定 不一致地调节基因簇，将这些基因簇与特征的生理测量联系起来， 确定负责开发和维护明确表型的基因谱。 遗传学成分将有助于验证基因的生理重要性和“高风险” 特征良好的队列中的等位基因，提供服务，使研究人员能够检测新型变体 并测试各种风湿性疾病中候选基因中变体的关联。通过 微阵列分析，我们将能够探索涉及的新型前哨基因和调节途径 风湿性疾病并促进用于高通量基因分型的候选基因的选择。核心 将直接与核心A互动，这将有助于核心进行财务管理，整合信息 使用核心数据库系统的技术解决方案，并协调新研究的开发 个人调查人员的努力。这些数据将通过核心B链接到下游功能 对核心的基因研究的研究。这些全面的人类基因组研究将补充 研究基础研究人员提供的严格表型表征。特定目标 核心是：1）提供支持基因表达分析和基因分型所需的集成实验室 关于风湿性疾病，实验和项目管理患者的样本， 引物和测定设计，以及与基因组和遗传数据相关的计算/分析活动； 2）提供有效的，具有成本效益的高通量表达分析和基因分型服务以满足 对各种项目的需求，包括试点项目，作为RDRCC的一部分，旨在测试 硬皮病（GZMB）的硬皮病的优先候选基因中的遗传变异相关。