Mayo Clinic Undiagnosed Disease Network Metabolomics Core

梅奥诊所未确诊疾病网络代谢组学核心

基本信息

批准号：
9982453
负责人：
IAN R LANZA
金额：
$ 59.58万
依托单位：
MAYO CLINIC ROCHESTER
依托单位国家：
美国
项目类别：
财政年份：
2018
资助国家：
美国
起止时间：
2018-08-01 至 2022-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9982453
关键词：
Adipose tissue Amino Acids Area Biochemical Genetics Biogenic Amines Bioinformatics Biological Biological Assay Biology Cerebrospinal Fluid Clinic Clinical Clinical Informatics Communication Communities Complex Computer software Country Data Data Analyses Diagnosis Diagnostic Disease Ensure Enzymes Fee-for-Service Plans Funding Goals Gold Human Informatics Laboratories Leadership Lipids Liquid substance Liver Mass Fragmentography Mass Spectrum Analysis Measures Metabolic Metabolism Methods Mission Mitochondria Muscle NMR Spectroscopy Participant Patient Care Pattern Recognition Physicians Physiology Plasma Polysaccharides Rare Diseases Recording of previous events Resource Informatics Resources Rest Role Saliva Sampling Services Site Techniques Test Result Tissue Sample Tissues United States National Institutes of Health Urine Water analytical tool assay development base case-by-case basis clinical care clinical practice computing resources diagnosis quality disease diagnosis improved informatics infrastructure innovation insight interest metabolic phenotype metabolome metabolomics metabolomics resource method development organic acid screening

项目摘要

PROJECT SUMMARY This proposal pairs existing analytical resources with clinical expertise at Mayo Clinic toward the goal of aiding the UDN in the diagnosis and mechanistic understanding of rare diseases. The overall goal is to apply state- of-the-art untargeted and targeted/quantitative metabolomics approaches, bioinformatics, and expert clinical interpretation to the biological samples collected within the established UDN pipeline. The specific aims of the Mayo Clinic UDN Metabolomics Core are: 1) to collaborate with other UDN centers, 2) to perform global, untargeted metabolite profiling, 3) to perform targeted quantitative analysis of select metabolites, 4) to provide assay development capabilities, 5) to provide clinical expertise to the UDN, and 6) to provide access to our growing national network of metabolomics experts. Our approach to untargeted metabolite profiling involves 3 complementary analytical platforms for optimal coverage and annotation of metabolites by GC-MS, LC-MS/MS, and NMR spectroscopy. Our targeted quantitative approach will include key priority targets (i.e., glycans, lipids, and mitochondrial metabolites) as well as a wide breadth of other targetable metabolites that will provide crucial metabolic insights on a case-by-case basis. To accomplish these goals, we unite a diverse group of analytical chemists, physiologists, bioinformaticians, and clinicians as a single, integrated core that is prepared to contribute currently operational workflows and expertise to the UDN.

项目摘要该建议将现有的分析资源与Mayo Clinic的临床专业知识配对，以帮助 UDN在诊断和机械理解稀有疾病中。总体目标是应用国家 - 未靶向和针对性/定量的代谢组学方法，生物信息学和专家临床解释在已建立的UDN管道中收集的生物样品。特定目标 Mayo Clinic UDN代谢组学核心是：1）与其他UDN中心合作，2）执行全球，未靶向的代谢物分析，3）对精选代谢产物进行靶向定量分析，4）测定开发能力，5）为UDN提供临床专业知识，6）提供了我们的访问权限不断发展的代谢组学专家网络。我们对未靶向代谢物分析的方法涉及3 GC-MS，LC-MS/MS的最佳覆盖范围和注释的互补分析平台，和NMR光谱。我们的目标定量方法将包括关键的优先级目标（即，聚糖，脂质和线粒体代谢产物）以及其他可提供的靶向代谢物的广度逐案的关键代谢见解。为了实现这些目标，我们团结了一群分析化学家，生理学家，生物信息学家和临床医生是一个准备的综合核心为目前为UDN贡献目前的工作流程和专业知识。