Prof Johannes Häberle is a paediatrician, neonatologist and intensive care specialist and a senior metabolic consultant at University Children’s Hospital Zürich, where he is also Head of the Metabolic Laboratory, and an Assistant Professor of Paediatrics at the University of Zürich. His research group focuses on inherited defects of ureagenesis and on the development of novel treatment options for urea cycle disorders. Dr Häberle chairs the European working group for guidelines for the diagnosis and treatment of urea cycle disorders and is a member of the Executive and Scientific Boards of the European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). He is also Chair of the SSIEM Education and Training Advisory Committee (ETAC) and a council member of the Society for the Study of Inborn Errors of Metabolism (SSIEM).