Emerging genomics

Klaus Weinberger of BIOCRATES Life Sciences AG explains the potential of metabolomics to revolutionize diverse areas of life.

“Metabolomics is the systematic identification and quantification of metabolites in a biological sample”
-Klaus Weinberger

What does the term metabolomics stand for?
Klaus Weinberger. Metabolomics is an emerging field in functional genomics that is increasingly being recognized as the functionally most relevant discipline in this area. Metabolomics is the systematic identification and quantification of metabolites, such as amino acids, sugars or lipids in a biological sample. Sample matrices range from cell, tissue or organ specimens to bodily fluids, such as plasma, serum, urine or CSF.

Is there already a proof-of-concept for metabolomics?
KW. The proof-of-concept for targeted metabolomics was first delivered in clinical diagnostics, namely in neonatal screening for inborn errors of metabolism. In the late 1990s, the diagnosis of inherited disorders in amino-acid metabolism, such as phenylketonuria, or fatty acid oxidation disorders, such as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, was revolutionized by the use of mass-spectrometric assays.

The idea was to quantify specific sets of amino acids and acylcarnitines to diagnose specific metabolic disorders, and it worked, laying the foundation for what we are now referring to as 'targeted metabolomics'. The transition from expensive, monoparametric assays to simultaneous diagnosis of 20-30 monogenic diseases, which was co-pioneered by one of the founders of Biocrates, has taught us some very important lessons for future clinical applications that will ultimately lead to significant medical and commercial benefits.

Are there other practical applications of metabolomics?
KW. The range of potential applications is wide and varied. Besides neonatal screening, metabolomics is currently applied in biomarker and diagnostics research and in drug development. It can be used to uncover new drug targets, prioritize lead compounds and assess drug toxicity, enabling the development of novel, smarter and safer drugs. At the same time, metabolomics will help identify individuals likely to benefit from a given therapy.

Yet, the diagnostic potential of metabolomics is not confined to metabolic disorders. For example, metabolomics may help identify individuals at risk for diabetes, and it will have a broad range of applications in diseases such as cancer, chronic kidney disease and neurologic disorders. Another success for metabolic markers has been the ability to diagnose renal, liver, and heart organ transplant rejections.

Also, metabolomics is widely used in nutritional science to determine the effects of specific diets, and it is being employed in environmental research and monitoring to assess the risks of pharmaceuticals, pesticides and household or industrial chemicals.

What is your vision for the future of metabolomics?
KW. Metabolomics has the potential to revolutionize diverse areas of life. A thorough understanding of disease-related metabolic processes will allow us to utilize new markers for both diagnosis and therapy. Importantly, these markers will be able to be identified from samples that are easily obtainable by non-invasive procedures using readily accessible biofluids, such as plasma or urine.

Assessment of the metabolic characteristics of individual patients will lead to the development of personalized treatments and enhance the benefit a given therapy has for an individual patient. Metabolomic analyses will become part of the standard repertoire of laboratory diagnostics in both human and veterinary medicine.

Apart from its medical applications, however, other aspects of daily life, such as healthy nutrition or optimized exercise, will also be addressed by metabolomics. Thus, by analyzing a person's specific metabolic reactions towards food intake or exercise, it will be possible to customize dietary schemes and training programs. Metabolomics will also impact on industrial bioprocesses, such as the cell-based production of therapeutic proteins or nutritional supplements, and it will facilitate the optimization and monitoring of exploited biological processes. Overall, metabolomics will develop into a powerful analytical tool that will do much to promote the scientific, medical, and economic progress of our society.

Klaus Weinberger is a biomedical scientist with particular expertise in metabolomics infectious diseases, public health, and immunology. Before joining Biocrates, he led a  research group at the University of Regensburg. Dr. Weinberger holds a MSc in biophysics, biochemistry and microbiology, and a PhD in medical microbiology from the University of Regensburg.