Our research focuses on the development and application of analytical methods based on chromatography and mass spectrometry to investigate inherited disorders of energy metabolism. We combine two complementary approaches: metabolic profiling to identify and interpret disease-associated metabolic changes, and stable isotope tracing to investigate metabolic pathways and assess metabolic flexibility.

A key aspect of our work is the interpretation of metabolic profiles in the context of intermediary metabolism, with particular attention to distinguishing pathological signals from physiological and preanalytical variations. We aim to improve the diagnostic value of metabolic biomarkers through their evaluation, the establishment of reliable reference intervals and the development of robust analytical methods. Ultimately, our goal is to provide accurate and clinically useful diagnostic tools that also support patient follow-up and treatment monitoring.

Our main research interests are

Interpretation of metabolic profiles in inherited metabolic disorders: How can we distinguish physiological and preanalytical variations from pathological signals, and improve the diagnostic interpretation of metabolic biomarkers?

Metabolic flexibility in inherited disorders of energy metabolism: How is metabolic flexibility disturbed, how can we investigate these alterations, and to what extent can they be restored?

To use stable isotope tracing in fibroblasts and peripheral blood mononuclear cells (PBMCs) to identify dynamic metabolic signatures for the functional diagnosis of inherited disorders of energy metabolism.

To quantify the contribution of different energy pathways in response to changes in substrate availability in healthy controls and patients with inherited disorders of energy metabolism using stable isotope tracing.

To characterize metabolic signatures associated with fasting and investigate the dynamic adaptation and flexibility of energy metabolism in response to fasting in healthy individuals.

To evaluate the diagnostic performance of non-reducing end (NRE) sugar and glycosaminoglycan (GAG) methanolysis methods in patients with mucopolysaccharidoses or oligosaccharidoses and investigate their suitability for monitoring treatment response.

To investigate the relationship between circulating medium-chain fatty acids and acylcarnitines in patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and evaluate their potential as complementary biomarkers for disease monitoring.

To investigate the impact of renal dysfunction and preanalytical factors on circulating acylcarnitine and fatty acid profiles, and to evaluate their implications for the interpretation of metabolic biomarkers in clinical diagnostics.

To characterize the variability of circulating tricarboxylic acid (TCA) cycle metabolite concentrations and investigate the influence of physiological and preanalytical factors on their levels and interpretation as metabolic biomarkers.

To investigate the influence of age and renal function on methylmalonic acid (MMA) concentrations in plasma and urine and evaluate their impact on diagnostic cut-offs for vitamin B12 deficiency.

• Analytical agreement of β-hydroxybutyrate measurement technologies: continuous ketone monitoring and point-of-care devices compared with liquid chromatography mass spectrometry
• Empagliflozin in GSD-Ib: Long-term safety and sustained recovery of neutrophil function including NET formation
• Improving the performance of biochemical genetic testing through external quality assessment.
• Pre-analytical considerations in the simultaneous quantification of ketone bodies, lactate, pyruvate and TCA cycle intermediates.
• Specific GAG ratios in the diagnosis of mucopolysaccharidoses
• The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases.

• Dr. med. Dr. phil. nat. Andrea Felser, Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern
• PD Dr. med. Alexander Lämmle, Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, & University Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern
• PD Dr. Darko Stojkov, Institute of Pharmacology, University of Bern
• Dr. med. Dr. phil. Matthias Gautschi, Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, & University Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern
• Prof. Jean-Marc Nuoffer, Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, & University Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern
• Prof. Michel Hochuli, Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern
• Dr. phil. nat. Palanivel Kandasamy, Department for BioMedical Research, Faculty of Medicine, University of Bern
• Prof. Lia Bally, Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern
• Prof. Britta Lundström-Stadelmann, Institute of Parasitology, Vetsuisse Faculty, University of Bern