Oregon Clinical and Translational Research Institute

俄勒冈临床和转化研究所

• 批准号: 9816556
• 负责人: David H Ellison
• 金额: $ 17.88万
• 依托单位: OREGON HEALTH & SCIENCE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-09-02 至 2022-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9816556
• 关键词: Algorithms; Aloral; Basic Science; Bioinformatics; Biological Markers; Caribbean region; Caring; Clinical; Clinical Research; Data; Data Scientist; Databases; Diagnosis; Diagnostic; Disease; Environment; France; Genetic Diseases; Genomics; Graph; Health Sciences; Human; Intervention; Medical Genetics; Metabolic Pathway; Methods; Molecular; Ontology; Oregon; Outcome; Pathway interactions; Patients; Phenotype; Polysaccharides; Positioning Attribute; Postdoctoral Fellow; Research; Research Institute; Resources; Science; Semantics; Structure; Symptoms; Training; Translational Research; United States; Universities; base; experience; genomic data; improved; knowledge base; metabolomics; microbiome; molecular phenotype; post-doctoral training; rare genetic disorder; skills; tool; translational impact

Project Summary Dr. Gourdine is an Afro-Caribbean and a naturalized citizen of the United States. After a first post-doctoral training in France, and a second in the US, he currently holds a position as a Senior Research Associate in the Oregon Clinical & Translational Research Institute (OCTRI) at Oregon Health & Science University (OHSU), in Portland, OR. The diversity supplement proposal in the CTSA hub environment will provide him a quality framework in clinical bioinformatics research. This experience will help him acquire a unique set of skills in a team-science setting and fill the gap of diversity in research at OHSU and nationwide. The central hypothesis is that the analysis of metabolites, glycans, and microbiome and their integration with genomics data can: 1) reveal new biomarkers for known diseases; 2) help diagnose rare genetic diseases; and 3) help the selection of interventions that might lessen disease symptoms or make other treatments more effective. The proposal is an integrative approach to enhance disease comparisons and diagnostics with glycomics and metabolomics, using relevant knowledge-bases, raw data from the Undiagnosed Diseases Network (UDN) patients and the Human Phenotype Ontology (HPO) with the following overall aims: Aim 1. Complete missing metabolomics and glycomics information to improve diagnostic use. Aim 2. Evaluate integration of molecular phenotypes in the diagnostic tools by analyzing undiagnosed patient data.

项目概要 古尔丁博士是加勒比非洲人，并入籍美国公民。第一次博士后后 他在法国接受培训，在美国接受培训，目前在该公司担任高级研究员。 俄勒冈健康与科学大学 (OHSU) 的俄勒冈临床与转化研究所 (OCTRI)， 俄勒冈州波特兰CTSA 中心环境中的多样性补充提案将为他提供优质的 临床生物信息学研究框架。这段经历将帮助他获得一套独特的技能 团队科学设置并填补 OHSU 和全国研究多样性的空白。中心假设 代谢物、聚糖和微生物组的分析及其与基因组数据的整合可以：1) 揭示已知疾病的新生物标志物； 2）帮助诊断罕见遗传病； 3）帮助选择 可能减轻疾病症状或使其他治疗更有效的干预措施。该提案是 通过糖组学和代谢组学增强疾病比较和诊断的综合方法， 使用相关知识库、来自未确诊疾病网络 (UDN) 患者的原始数据以及 人类表型本体论 (HPO) 的总体目标如下： 目标 1. 完成缺失的代谢组学 和糖组学信息以改善诊断用途。目标 2. 评估分子表型的整合 通过分析未诊断的患者数据来使用诊断工具。