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Uncovering global genetic diversity for equitable precision medicine

In this webinar, Francisco de la Vega (CTO, Galatea Bio) discusses the underrepresentation of global genetic diversity in current resources, especially for non-European and admixed populations, and how this hampers the discovery of new therapeutic targets.​ He shares two studies – first on familial hypercholesterolemia in an admixed cohort, which uncovered novel genetic contributors to the disease, and confirmed them with Oxford Nanopore long-read sequencing. In the second, nanopore sequencing was used on a cohort of understudied African diaspora populations in the Americas (CAAPA), showing how this data can enrich variant catalogues, support clinical interpretation, and help drive more equitable precision medicine. Please note: This is independent, investigator-led research using Oxford Nanopore technology. Oxford Nanopore products are for research use only, and not for use in diagnostic procedures.