Exploring Human Metabolism to Map Genetic Influences
Clinical Leader Online, October 2014
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 [1, 2]. 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, treatments and new applications for existing drugs.