Seminar

Untargeted metabolite profiling: A powerful tool for discovering metabolomic derangements that arise from genes, drugs and diseases

Prof. Steven Gross

In human patients, we often know the immediate biochemical consequence of a given inborn error of metabolism and the primary molecular target of a given drug. However, the integration of biochemical pathways often leads to complex and unanticipated consequences of gene mutations and drug actions, owing to the unrecognized interconnectivity of biochemical pathways. Untargeted plasma metabolite profiling holds enormous potential to discover, at a comprehensive systems level, how gene defects and drugs can broadly perturb complex biochemical networks and thereby give rise to unpredicted actions. Using examples, this presentation will describe how untargeted plasma metabolite profiling can be used to screen for and expand our current understanding of rare inborn errors of metabolism in neonates, as well as discover unappreciated on-target and off-target molecular mechanisms of drug actions.