Oregon Clinical and Translational Research Institute

项目摘要 博士古尔丁是一名非洲裔加勒比人，入籍美国公民。第一个博士后 在法国接受培训，第二次在美国，他目前担任高级研究助理， 俄勒冈州健康与科学大学（OHSU）的俄勒冈州临床与转化研究所（OCTRI），位于 俄勒冈州波特兰。在CTSA枢纽环境的多样性补充建议将为他提供一个质量 临床生物信息学研究框架。这种经验将帮助他获得一套独特的技能， 团队科学设置和填补在OHSU和全国研究的多样性的差距。核心假设 代谢物、聚糖和微生物组的分析及其与基因组学数据的整合可以：1） 揭示已知疾病的新生物标志物; 2）帮助诊断罕见遗传疾病; 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 利用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，未诊断疾病网络（UDN）患者的原始数据和 人类表型本体论（HPO）具有以下总体目标：目标1。完全缺失代谢组学 和糖组学信息以改进诊断用途。目标2.评价分子表型的整合， 通过分析未诊断的患者数据来诊断工具。

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.