Prof. Dr. med. Matthias Baumgartner

Area of Research

Description of Research Interest

Matthias Baumgartner is a physician-scientist with a recognized expertise in inborn errors of metabolism. Research focus on disorders of intracellular cobalamin (vitamin B12) metabolism including the methylmalonic acidurias, homocystinurias and remethylation disorders. Together with his team, identification of several of the genes involved in these pathways and elucidation of intracellular trafficking of cobalamin.
Main techniques in the lab include enzymology, molecular genetics, bacterial and eukaryotic expression systems, cellular and animal models of disease (primary cultures from patients, genetically modified cell lines, mouse models), mass spectrometry based metabolite detection, metabolomics an multiomics.

Member of Collaborative/interdisciplinary Research Consortia

- URRP  "Itinerare-Innovative Therapies in Rare Diseases, Co-Director
- SwissPedHealth - joint pediatric national data stream connecting research across Swiss peditaric hospitals, PI Lighthpouse Project
- RAINDROP: Rapid and Accurate INborn Disease Recognition via multi-Omics Profiling, PI