A. Personal Statement
Prof. Dr. Stefan KÖLKER, MD, is Head of the Division of Child Neurology and Metabolic Medicine at the University Children’s Hospital in Heidelberg, Germany. He graduated in Medicine (1998) at the University of Marburg, Germany, and further qualified as Pediatrician in 2006. In 2007, he was certified for Pediatric Metabolic Medicine by the European Union of Medicial Specialists (UEMS) and since then has worked as a Consultant for Pediatric Metabolic Medicine at the University Children’s Hospital Heidelberg. In addition to his clinical and diagnostic expertise, he has a long-standing experience in translational research focusing on organic acidurias, urea cycle disorders, and energy metabolism. He receives grants from the European Union, German Research Community (DFG), Ministry of Education and Science (BMBF), and private sponsors. He is member of various national and international societies for IMD. Since 2011, he has been coordinator of the EU-funded project “European registry and network for intoxication type diseases (E-IMD)” focusing on patients with organic acidurias and urea cycle defects, and since 2013 he and his team have also managed the patient registry of the EU-funded project “European network and registry for homocystinurias and methylation defects” and the “International Working Group on Neurotransmitter-related Diseases (iNTD)” which extends the disease panel to 47 rare IMD. Since 2017, he has been vice-coordinator of MetabERN, the European Reference Network for Hereditary Metabolic Disorders, and since 2018 he has coordinated EU-funded “United Registry for Inherited Metabolic Disorders (U-IMD)”, the first semantically interoperable patient registry covering all IMDs. He has published more than 150 original scientific articles, his current h-index is 38.