Human Genetics and Clinical Research Core

人类遗传学和临床研究核心

• 批准号: 10452744
• 负责人: Chirag R Parikh
• 金额: $ 33.53万
• 依托单位: YALE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-09-01 至 2024-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10452744
• 关键词: Area; Bioinformatics; Biological Assay; Biological Markers; Biology; Biometry; CLIA certified; Clinical; Clinical Medicine; Clinical Research; Collaborations; Communities; Complex; Copy Number Polymorphism; Country; Cyst; DNA sequencing; Data Analytics; Data Set; Development; Disease; Ensure; Environment; Evaluation; Faculty; Fostering; Functional disorder; Funding; Genes; Genetic; Genetic Heterogeneity; Genetic Research; Genome; Genomic approach; Genomics; Goals; Health; Heritability; Human; Human Biology; Human Genetics; Hypertension; Hypotension; Individual; Informatics; Infrastructure; Inheritance Patterns; Institutional Review Boards; Journals; Kidney; Kidney Diseases; Kidney Failure; Knowledge; Liver diseases; Logistics; Maintenance; Medical; Mendelian disorder; Methodology; Methods; Molecular; Mutation; National Institute of Diabetes and Digestive and Kidney Diseases; Nephrology; Nephrotic Syndrome; Patient Recruitments; Patients; Performance; Phenotype; Physicians; Polycystic Kidney Diseases; Production; Proteins; Proteomics; Protocols documentation; Publications; Regulatory Affairs; Renal function; Renal glomerular disease; Reporting; Research; Research Design; Research Personnel; Research Project Grants; Resources; SNP genotyping; Sampling; Scientist; Sequence Analysis; Signal Transduction; Sodium Chloride; Statistical Data Interpretation; Statistical Methods; Study Subject; Targeted Resequencing; Technology; Time; Training; Translational Research; Variant; assay development; base; biobank; bioinformatics tool; biomarker development; biomarker discovery; biomarker validation; blood pressure regulation; clinical database; clinical phenotype; cohort; cost; density; exome; exome sequencing; experience; gene discovery; genetic analysis; genetic approach; genomic locus; glomerular function; human disease; improved; innovation; insight; large datasets; member; multiplex assay; new technology; next generation; next generation sequencing; non-genetic; novel; novel strategies; precision medicine; protein biomarkers; protocol development; recruit; research study; skills; student training; success; technology development; tool; tool development; trait; transcriptomics; translational research program; translational scientist

Core C Project Summary/Abstract Recent advancements in genetic and genomic approaches have been highly productive in identifying new biology underlying human health and disease. The genomic technology development support from The O'Brien Center, over the last 5 years, has enabled the implementation of cutting-edge technologies and achieve cost reductions of exome and other sequence analyses. Similarly, success in biomarker discovery methodology and multiplex assay development have allowed translational of these signals in clinical settings. Success in disease gene discovery and translational research requires diverse skill sets and effective collaborations among clinicians, basic scientists, and biostatisticians. Necessary tools include expertise in clinical medicine, knowledge of the regulatory environment to permit development of appropriate IRB protocols, expertise in study design to ensure that studies are adequately statistically powered, technological expertise to ensure that lab-based approaches remain at the cutting edge of the field, and first-rate bioinformatical/biostatistical analysis of results to ensure that findings are valid and robust. Yale has developed expertise in each of these areas and as a consequence, Yale investigators have been at the forefront of this endeavor with leaders in gene discovery for renal and Mendelian diseases and complex traits and translational research. In the last 5 years, projects fostered by 51 Yale and non-Yale investigators have led to the publication of more than 80 articles, many of them in high-profile journals. These publications report on the discovery of new disease genes for a wide array of kidney diseases, with many more discovery projects underway with leading investigators from the NIDDK community. This core will continue to provide key infrastructure support for all steps along the path to discovery, including development of HIC protocols, patient recruitment, biomarker discovery and validation, and analysis of next generation DNA sequencing and other large data sets. This core will provide effective training for students, fellows and faculty, and will help engage new investigators in translational research.

核心C项目摘要/摘要 遗传和基因组方法的最新进展在鉴定新的 人类健康和疾病的基础生物学。基因组技术开发支持来自 奥布莱恩中心，在过去的5年里，已经实现了尖端技术的实施， 实现外显子组和其他序列分析的成本降低。同样，生物标志物发现的成功 方法学和多重测定的发展已经允许在临床环境中翻译这些信号。 疾病基因发现和转化研究的成功需要多样化的技能和有效的 临床医生、基础科学家和生物统计学家之间的合作。必要的工具包括以下方面的专门知识： 临床医学，法规环境知识，以允许制定适当的IRB方案， 研究设计方面的专业知识，以确保研究具有足够的统计学效力，技术专业知识， 确保基于实验室的方法保持在该领域的最前沿， 对结果进行生物信息学/生物统计学分析，以确保结果有效且稳健。耶鲁发展了 在这些领域的专业知识，因此，耶鲁大学的研究人员一直在这方面的最前沿 与肾脏和孟德尔疾病的基因发现以及复杂性状和翻译的领导者一起奋进 research.在过去的5年里，51名耶鲁大学和非耶鲁大学研究人员发起的项目已经导致了 发表了80多篇文章，其中许多发表在知名期刊上。这些出版物报告了 发现各种肾脏疾病的新疾病基因，还有更多的发现项目 NIDDK社区的主要调查人员正在进行。这个核心将继续提供关键 为发现过程中的所有沿着步骤提供基础设施支持，包括HIC协议的开发、患者 招募、生物标志物发现和验证，以及下一代DNA测序和其他分析 大型数据集。这个核心将为学生、研究员和教师提供有效的培训，并将有助于参与 翻译研究的新研究者。