Metabolic analysis as a driver for discovery, diagnosis, and therapy

Ralph J. DeBerardinis, Kayvan R. Keshari

Research output: Contribution to journalReview articlepeer-review

41 Scopus citations


Metabolic anomalies contribute to tissue dysfunction. Current metabolism research spans from organelles to populations, and new technologies can accommodate investigation across these scales. Here, we review recent advancements in metabolic analysis, including small-scale metabolomics techniques amenable to organelles and rare cell types, functional screening to explore how cells respond to metabolic stress, and imaging approaches to non-invasively assess metabolic perturbations in diseases. We discuss how metabolomics provides an informative phenotypic dimension that complements genomic analysis in Mendelian and non-Mendelian disorders. We also outline pressing challenges and how addressing them may further clarify the biochemical basis of human disease.

Original languageEnglish (US)
Pages (from-to)2678-2689
Number of pages12
Issue number15
StatePublished - Jul 21 2022


  • genomics
  • magnetic resonance
  • metabolism
  • metabolomics
  • molecular imaging
  • positron emission tomography
  • stable isotopes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


Dive into the research topics of 'Metabolic analysis as a driver for discovery, diagnosis, and therapy'. Together they form a unique fingerprint.

Cite this