JIMD Podcasts

IMD Research Round-Up: Untargeted metabolomics


Listen Later

With Rodrigo off caring for sick children, James Nurse joins Silvia Radenkovic to speak with Dr Judith Jans and Dr Devin Oglesbee about the emerging field of untargeted metabolomics.
Authors’ opinions are their own and do not represent their institutions.
Referenced papers include:
Miller MJ, et al
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2025 Jul 17:101493. doi: 10.1016/j.gim.2025.101493. Epub ahead of print.
Evans AM, et al
Dissemination and analysis of the quality assurance (QA) and quality control (QC) practices of LC-MS based untargeted metabolomics practitioners. Metabolomics. 2020 Oct 12;16(10):113. doi: 10.1007/s11306-020-01728-5.
Wurth R, et al.
An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism. Mol Genet Metab. 2024 Jan;141(1):108115. doi: 10.1016/j.ymgme.2023.108115. Epub 2023 Dec 15.
Haijes HA, et al.
Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma. Metabolites. 2019 Jan 11;9(1):12. doi: 10.3390/metabo9010012.
Willems AP, et al
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases. Front Mol Biosci. 2023 Nov 2;10:1283083. doi: 10.3389/fmolb.2023.1283083.
Haijes HA, et al.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation. Mol Genet Metab. 2019 Aug;127(4):368-372. doi: 10.1016/j.ymgme.2019.07.001. Epub 2019 Jul 9. PMID: 31311714.
Hoegen B, et al
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders. J Inherit Metab Dis. 2022 Jul;45(4):682-695. doi: 10.1002/jimd.12522. Epub 2022 May 22. PMID: 35546254; PMCID: PMC9544878.
Gao Q, et al
A diagnostic algorithm for inherited metabolic disorders using untargeted metabolomics. Metabolomics. 2025 Jul 27;21(4):101. doi: 10.1007/s11306-025-02302-7. PMID: 40715884; PMCID: PMC12301266.
Kerkhofs MHPM, et al.
Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics. Metabolites. 2020 May 18;10(5):206. doi: 10.3390/metabo10050206.
Ashenden AJ, et al.
The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges. Int J Neonatal Screen. 2024 Jun 21;10(3):42. doi: 10.3390/ijns10030042.
Liu N, et al.
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism. JAMA Netw Open. 2021 Jul 1;4(7):e2114155. doi: 10.1001/jamanetworkopen.2021.14155.
...more
View all episodesView all episodes
Download on the App Store

JIMD PodcastsBy Journal of Inherited Metabolic Disease

  • 5
  • 5
  • 5
  • 5
  • 5

5

10 ratings


More shows like JIMD Podcasts

View all
This American Life by This American Life

This American Life

91,297 Listeners

Radiolab by WNYC Studios

Radiolab

43,837 Listeners

Freakonomics Radio by Freakonomics Radio + Stitcher

Freakonomics Radio

32,246 Listeners

NEJM This Week by NEJM Group

NEJM This Week

321 Listeners

Neurology® Podcast by American Academy of Neurology

Neurology® Podcast

299 Listeners

Nature Podcast by Springer Nature Limited

Nature Podcast

756 Listeners

The Curbsiders Internal Medicine Podcast by The Curbsiders Internal Medicine Podcast

The Curbsiders Internal Medicine Podcast

3,374 Listeners

The Daily by The New York Times

The Daily

113,121 Listeners

Lovett or Leave It by Lovett or Leave It

Lovett or Leave It

25,129 Listeners

Up First from NPR by NPR

Up First from NPR

56,944 Listeners

Core IM | Internal Medicine Podcast by Core IM Team

Core IM | Internal Medicine Podcast

1,150 Listeners

Conan O’Brien Needs A Friend by Team Coco & Earwolf

Conan O’Brien Needs A Friend

59,604 Listeners

Throughline by NPR

Throughline

16,512 Listeners

The Rest Is History by Goalhanger

The Rest Is History

15,506 Listeners

The News Agents by Global

The News Agents

1,314 Listeners