Speaker
Description
Human metabolism generates ten thousands of small molecules regulating important functions in our physiology. Dysruptions of metabolic enzymes by genetic mutations result in severe, debilitating diseases, called Inborn Metabolic Disorders (IMDs). IMDs are among the top 3 of most deadly diseases in children and therapies are available for only ~15%.
Modern high-resolution mass spectrometry techniques can detect thousands of metabolites in body fluids in a single run with the potential to discover a new generation of biomarkers for early diagnosis, with prognostic value and with relevance for monitoring the side effects and benefits of innovative (genetic) therapies. However, the key challenge is that the chemical structure of most of the detected metabolite features remains unidentified. This is essential to link biomarkers with functional pathways and thus disease symptoms.
We have been developing a computational metabolomics pipeline for molecular structure identification by integrating mass spectrometry and InfraRed Ion Spectroscopy (IRIS). In combination with chemical synthesis of defined standards, this has allowed us to identify novel biomarkers for early diagnosis in pyridoxin-dependent epilepsy, GLUT1 deficiency and several other IMDs.
