High-throughput biomolecular (omic) analyses enabled the simultaneous quantification of hundreds or thousands of transcripts, proteins, metabolites in a biological system, contributing to the identification of discriminatory multi-component molecular profiles of a pathophysiology. Molecular quantities being interconnected, even subtle differences in one can carry significance if viewed in the context of the observed changes in the rest of the molecules. We can now view molecular physiology as a dynamic arrangement of interacting biomolecular networks and interpret the molecular mechanisms underlying a pathophysiology as disruptions in this network connectivity and dynamics (network medicine). Thus, omic analyses pave the way for in-depth systemic studies of human (patho)physiology. Metabolomics is the most recently introduced but fast growing omics, referring to the analysis of the metabolic profile, i.e. the concentration profile of the free small metabolite pools, of a biological system. The metabolic profile is an integral component of the epigenetic fingerprint of an individual, providing a direct link to the phenotype. Hence, metabolomics of biological fluids or tissues (when available) can be crucial for accurate disease diagnosis and design of personalized therapeutic treatments, either as singly applied or as part of multi-omic studies, foreseen to complement the classical biochemical tests in the near future. In this lecture, the significance of metabolomics as a useful tool in clinical research and practice will be presented in the general context of systems medicine and demonstrated through examples of its application in the search for diagnostic profiles, underlying molecular mechanisms of disease and appropriate therapeutic treatments, within endocrinology, pharmacometabolomics, neurophysiology and personalized nutrition, from collaborative projects of my laboratory and the literature. The current challenges for the broad deployment of the metabolomic analytical platform to systems & precision medicine research and practice, concerning the standardization and harmonization of the involved experimental protocols and computational methods for accurate, reproducible and validated performance, will also be discussed.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology