Prof Matthias Baumgartner is a Professor of Metabolic Diseases at the University of Zürich (UZH). He is Head of the Division of Metabolic Diseases, Medical Director of the Swiss newborn screening programme and Director of the Children’s Research Center at University Children’s Hospital Zürich. Prof Baumgartner is an internationally renowned metabolic paediatrician and scientist with a main research interest in disorders of intracellular cobalamin metabolism including homocystinurias and methylmalonic acidurias. He is a member of the steering committees of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD; www.e-hod.org) and the European Registry and Network of Intoxication Type Metabolic Diseases (E-IMD; www.e-imd.org) and also an editor of the Journal of Inherited Metabolic Disease. At UZH, he initiated the Rare Disease Initiative Zurich (radiz) Clinical Research Priority Program, which was followed by the Innovative Therapies in Rare Diseases (ITINERARE) University Research Priority Program, of which he is a co-director.