# Mayo Clinic Undiagnosed Disease Network Metabolomics Core

> **NIH NIH U01** · MAYO CLINIC ROCHESTER · 2020 · $595,840

## Abstract

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.

## Key facts

- **NIH application ID:** 9982453
- **Project number:** 5U01TR002471-03
- **Recipient organization:** MAYO CLINIC ROCHESTER
- **Principal Investigator:** IAN R LANZA
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $595,840
- **Award type:** 5
- **Project period:** 2018-08-01 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9982453

## Citation

> US National Institutes of Health, RePORTER application 9982453, Mayo Clinic Undiagnosed Disease Network Metabolomics Core (5U01TR002471-03). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9982453. Licensed CC0.

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