Molecular pathogenesis of genetic disorders

Gudrun Rappold Department of Human Molecular Genetics Institute of Human Genetics University of Heidelberg INF 366 69120 Heidelberg Germany   Phone:  +49-6221-565059 Fax:  +49-6221-565155 Email:  gudrun.rappold@med.uni-heidelberg.de Website:  www.klinikum.uni-heidelberg.de/Abt-Molekulare-Humangenetik.6096.0.html?&FS=0&L=de

Research Summary

Our team works on the molecular mechanism underlying human developmental disease. A special focus is on neurodevelopmental disorders and the genetic etiology of intellectual disability and autism, but also on the regulation of transcription factors in growth and development. Our work employs genome-editing, cell culture-based system as well as induced pluripotent stem cells and animal models. We aim at understanding how mutations correlate with disease, how genes are regulated and how they contribute to differentiation and development.

Structure of the Group