Professor Christian P. Schaaf, MD, PHD, FACMG
Medical Director of the Institute of Human Genetics, University of Heidelberg, Germany
Visiting Professor, Jan and Dan Duncan Neurological Research Institute and
Baylor College of Medicine, Houston, Texas, USA
Christian is a physician scientist who wants to understand how genes influence human cognition and behavior. His laboratory at the University of Heidelberg is dedicated to investigating the genetic basis of neurodevelopmental and neuropsychiatric disorders. Christian’s focus is on translational research. All of his research projects relate to patients he has encountered in clinic. Christian is a solver of medical mysteries. By treating each patient with respect and curiosity, he has not only made a real difference in the affected individuals’ lives, but also made seminal discoveries in the field of neuropsychiatric disease research. Christian and his team take a multi-facetted approach, including basic biochemical and cell biological studies, animal models, and clinical trials in human patients.
Their current research focuses on three genes and their associated phenotypes in the context of neuropsychiatric disease: CHRNA7, the gene encoding the alpha7 nicotinic receptor; MAGEL2, an imprinted gene in the Prader-Willi syndrome locus, truncating mutations of which are the cause of Schaaf-Yang syndrome (OMIM #615547); and NR2F1, the gene for Bosch-Boonstra-Schaaf Optic Atrophy syndrome (OMIM #615722), a neurodevelopmental disorder characterized by vision impairment and intellectual disability.
Christian is also a writer and an educator. Christian served as the Chair of the Education Committee of the ACMG. He has authored several textbooks, including “Human Genetics – From Molecules to Medicine”, prefaced by a foreword written by Nobel laureate Dr. James Watson. Most importantly, Christian is an advocate. An advocate of those affected with neurodevelopmental and neuropsychiatric disease. Affecting 10 individuals or 10 million – his work is aimed at understanding the causes of disease, to empower affected individuals, and to improve quality of life.
