Exploring Human Metabolism To Map Genetic Influences

By Susanne Elvidge and Rob Mohne

The metabolome, which describes all the small molecule metabolites in a single organism or sample, provides a snapshot of an organisms' metabolic status at that particular moment. Combining the power of metabolic profiles with the genetic blueprint created by genome-wide association studies (GWAS) has allowed Metabolon and its collaborators to create an atlas of genetic influences on human blood metabolites. This atlas will allow researchers to understand more about the impact of genetic polymorphisms on inborn errors of metabolism and on metabolically-related genetic disorders, potentially leading to new diagnostics and treatments and new applications for existing drugs.