Nuoffer
Jean-Marc Nuoffer is professor of Inborn Errors of Metabolism at the University of Bern Switzerland. He obtained his degree in Medicine form the University of Bern. He started his Paediatric Endocrinology and Metabolic training in Bern and completed his clinical and scientific training in Inborn Errors of Metabolism at the Hospital Necker in Paris. Back in Switzerland, he followed a training in Laboratory Medicine at the University Institute of Clinical Chemistry, Bern.
He currently leads the Swiss Reference Centre for Inborn Errors, Site Bern and the diagnostic metabolic unit at the University Institute of Clinical Chemistry. His clinical research is focused on the characterisation and the evaluation of treatment in IEM. His major areas of expertise in laboratory research are the biochemical characterisation IEM. Over the years the main focus switched from Urea Cycle Defects to mitochondrial disorders. He conducts basic research on mitochondrial disorders combining routine diagnostic methods, bioenergetics analysis and Metabolomics. To this aim he uses primary patient samples and his laboratory developed different methods and protocols and a NMR based bioreactor allowing the determination of intra and extracellular metabolites.