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Interfaculty cooperation grant

The Translational Metabolic Laboratory (TML) at the Radboudumc and the FELIX Laboratory have recently developed an internationally unique, advanced technology centre for metabolic biomarker identification. With the recent receipt of a grant from the board of Radboud University to support interfaculty collaboration (166.000 Euro), the researchers will now establish a metabolite identification service that will be open to interested parties worldwide. In addition to the field of inborn errors of metabolism, molecular structure identification is critical in many other medical fields.

In the Netherlands, every year more than 800 children are born with a genetic defect affecting their metabolism. Currently, up to 800 individual metabolic diseases, or inborn errors of metabolism, are recognized. Each differs in clinical symptoms, disease severity and available options for therapy or treatment. Every metabolic disease has a unique chemical fingerprint that can be detected in body fluids of patients; from this fingerprint, the exact position of the metabolic block in an individual patient can be deduced. Discovery of new metabolic biomarkers both unravels previously unknown metabolic diseases and provides improved screening and diagnostic options for known diseases.

Unique technology
The FELIX-TML collaboration brought together two state-of-the-art technologies on the Radboud University campus. The first is the ultra-sensitive instrumentation (mass spectrometry) for “Next Generation Metabolic Screening” installed at the TML, which enables metabolic profiling of individual patients. Exploiting the unprecedented sensitivity of this technology, a completely unknown part of the human metabolome can be uncovered. This achievement, however, brings with it an entirely new challenge; approximately 80% of these detected molecules have never been identified before and have unknown chemical structures. This question of molecular identification is currently the bottleneck in all laboratories using metabolomics worldwide.

The second technology is infrared ion spectroscopy at FELIX, which can provide a structural fingerprint of any molecule detected in patient screening. The combination of these two technologies is key to overcome this bottleneck in metabolic biomarker discovery; not only can extremely low-abundance metabolites be detected, but their chemical structures can be elucidated. The advantage of this new combined approach is obvious, but also unique – nowhere else in the world does the infrastructure necessary for the development of this technology exist at the same institution.