Christian P. Schaaf is the Medical Director and Department Chair of the Institute of Human Genetics at Heidelberg University (Germany). He received an MD from Heidelberg University Medical School in 2005. He completed a residency in Clinical Genetics at Baylor College of Medicine in Houston (USA) in 2010. He studies the genetic causes of neurodevelopmental and neuropsychiatric disorders. His work has led to the discovery of multiple new disease genes, and three disorders have been named after him: Schaaf-Yang syndrome, Bosch-Boonstra-Schaaf Optic Atrophy syndrome, and Marbach-Schaaf Neurodevelopmental syndrome. His groundbreaking work has been recognized with many awards, including a Doris Duke Clinical Scientist Development Award, the William K. Bowes Award for Medical Genetics by Partners Healthcare and Harvard Medical School, the inaugural Seldin-Smith Award for
Pioneering Research by the American Society for Clinical Investigation, and the Wilhelm Vaillant Prize.
Stefan Kölker is a professor in Translational Metabolic Medicine and Pediatric Neurology and Head of the Division of Pediatric Neurology and Metabolic Medicine at the Centre for Pediatric and Adolescent
Medicine, University Hospital Heidelberg, Germany. He graduated in Medicine from the University of Marburg, Germany, and qualified as a Pediatrician at the University Hospitals in Marburg and Heidelberg, Germany. He received a postdoctoral lecture qualification focusing on the pathomechanism of organic acidurias and was appointed Professor of Translational Metabolic Medicine and Pediatric Neurology at the University of Heidelberg. He is the coordinator of multi-center studies on organic acidurias and urea cycle disorders, chairman of an international guideline developmental group (glutaric aciduria type I), and organizer and teacher at the European courses for trainees in Pediatric Metabolic Medicine. He is the coordinator of the EU-funded project E-IMD. With his team, he manages the international patient registries E-IMD, E-HOD, and U-IMD on inherited metabolic disease. He is vice-coordinator and subnetwork coordinator of the approved European Reference Network for Hereditary Metabolic Diseases (MetabERN). In addition to his clinical and diagnostic expertise, he has long-standing experience in basic and translational research focusing on intoxication-type metabolic diseases.
