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Rethinking eGFR Across Populations: Insights from GATM Genetics and Metabolomics

Rethinking eGFR Across Populations: Insights from GATM Genetics and Metabolomics featured image
Serum creatinine remains the most widely used clinical biomarker for estimating glomerular filtration rate (eGFR) and diagnosing chronic kidney disease (CKD) worldwide. However, current clinical equations were largely developed in European-ancestry populations, leading to inconsistent performance across diverse groups—particularly among individuals of African ancestry. In this webinar, Dr. Olivia Gray, Senior Scientist at Variant Bio, presents a multi-omic investigation into the glycine amidinotransferase (GATM) locus, a key regulator of endogenous creatine biosynthesis. By integrating whole-genome sequencing, deep renal phenotyping, and metabolomic profiling, her team demonstrates that common African-enriched GATM variants can systematically lower eGFR estimates derived from creatinine without impacting true kidney function. Attendees will learn how metabolomics was critical in uncovering the biological mechanism linking these variants to elevated circulating creatine and downstream creatinine levels, as well as how these findings help explain potential misclassification of CKD risk in African ancestry populations. This work highlights the importance of incorporating genetic and metabolic context into clinical biomarker interpretation to enable more accurate and equitable precision medicine. What you’ll learn
  • How metabolomics can uncover biological mechanisms underlying clinical biomarkers
  • The role of multi-omic strategies in advancing population-scale research
  • How integrating genomic and metabolomic data can improve disease understanding
  • Opportunities to enhance diagnostic and prognostic accuracy through deeper molecular insights
  • The potential to drive more equitable and precise approaches to population health

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