Oregon Clinical and Translational Research Institute

项目摘要 古尔丁博士是非洲裔加勒比海人，入籍美国公民。在第一个博士后 他在法国接受培训，第二次在美国接受培训，目前在 俄勒冈健康与科学大学俄勒冈临床与转化研究所(OCTRI) 波特兰，或CTSA枢纽环境中的多样性补充建议将为他提供质量 临床生物信息学研究的框架。这段经历将帮助他在 建立团队科学环境，填补OHSU和全国研究多样性的空白。中心假说 代谢物、多糖和微生物组的分析及其与基因组学数据的集成可以：1) 揭示已知疾病的新生物标志物；2)帮助诊断罕见的遗传性疾病；以及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 用糖组学和代谢组学来加强疾病比较和诊断的综合方法， 使用相关知识库、来自未诊断疾病网络(UDN)患者和 人类表型本体论(HPO)的总体目标如下：目标1.完全缺失的代谢组学 和糖组学信息，以改善诊断用途。目的2.评价分子表型的整合性 诊断工具通过分析未诊断的患者数据。

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.