Clinical Metabolomics

Metabolomics is a rapidly developing scientific discipline which focuses on the study of metabolites in biological and biomedical investigations. Metabolites have many roles in humans including metabolism (e.g. the oxidation of glucose in the glycolysis pathway), regulation and signalling (e.g. tryptophan metabolism and immune response), biological structures (e.g. lipids in cell membranes) and by acting as precursors for the synthesis of other biomolecules (e.g. proteins). Metabolomics is focused on the study of all metabolites in a data-driven strategy to generate hypotheses or metabolic targets for further study.

Phenome Centre Birmingham is a collaborative metabolomics facility, providing services and techniques to investigate the metabolome, and provide high-quality, confident conclusions. We work extensively with industry and government bodies, working in the field of clinical metabolomics to improve our mechanistic understanding of human diseases and ageing, to identify targets for interventions and direct prognosis, diagnosis and treatment in stratified medicine.

Metabolites play many important roles in the human body including metabolism, acting as precursors for the synthesis of proteins, RNA and DNA as well as acting to regulate or signal within a biological system. One or multiple of these processes can be perturbed when we develop a disease (and sometimes prior to symptoms being observed) or can be altered in relation to diet, exercise and circadian rhythms.

Metabolomics  is a powerful tool for use in clinical studies, and has been employed  to discover biomarkers associated with diseases as well as efficacy and  toxicity of drugs. Used in this way, metabolomics has aided disease  identification, severity and prognosis include inborn errors of  metabolism, cancer, and cardiovascular diseases.

In Phenome Centre Birmingham we apply untargeted and targeted metabolomics to investigate the role of metabolites in human health and disease across the lifecourse. In simple terms we are asking one of two questions, (1) what is the biochemical mechanism or (2) what is a biomarker panel. For example, we may want to understand the biochemical mechanism which leads from a non-symptomatic to symptomatic stage of a disease. Or we may want to identify a biomarker which will predict the risk of an individual in a population to a specific disease (defined as stratified medicine or precision medicine).

Two interlinked strategies are applied. The discovery based untargeted metabolomics approach is applied to yield new biological discoveries and identify 'target' metabolites or pathways. These discoveries then lead in to the development of targeted assays to validate and translate these discoveries into the clinic. 

Phenome  Centre Birmingham applies both Untargeted and Targeted metabolomics,  depending on the answers our collaborators need; Untargeted metabolomics  is a discovery-based tool to generate a novel hypothesis in clinical practice (also known as hypothesis-generating studies), and results can then be validated through targeted approaches. We also use metabolomics as a dynamic tool in precision medicine to complement other omics approaches.

Selected examples of previous projects in this theme, demonstrating the range of applications, diseases and organisations that we work with: