Christian Schaaf is a physician scientist with an interest in how genes influence human cognition and behavior. His laboratory at the Jan and Dan Duncan Neurological Research Institute is dedicated to understanding the genetic basis of neurodevelopmental and neuropsychiatric disorders. The focus is on translational research. All of Schaaf’s research projects relate to patients he once encountered in the clinic, and he and his team continue to build increasingly large patient registries for these conditions. They take a multifaceted approach to better understand the respective disorders, including basic biochemical and cell biological studies, animal models and clinical trials in human patients.
His 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, a Prader–Willi syndrome (PWS) gene, which is defining new neurobehavioral disorders well beyond classic PWS; and NR2F1, mutations of which cause vision impairment and intellectual disability, a condition recently named Bosch–Boonstra–Schaaf optic atrophy syndrome.