Stefan Mundlos studied Medicine at the University of Göttingen, the University of California San Diego (UCSD), the University of Marburg, at the Walter and Eliza Hall Institute in Melbourne, and at the University of Heidelberg. He completed a clinical training in Pediatrics and Human Genetics at the University Hospital of Mainz, Germany. Thereafter, he spent one year as a research fellow at the Murdoch Institute for Research into Birth Defects in Melbourne, Australia, followed by a postdoc period at the Department of Cell Biology in Harvard, Boston, USA. He received his habilitation 1997 back in Mainz. In 1999 he was nominated for a Professorship in Human Genetics in Heidelberg. In 2000 he moved to Berlin. He is Director of the Institute for Medical and Human Genetics at the Charité and group leader of the Research Group Development & Disease at the Max Planck Institute for Molecular Genetics. The main focus of his research is in understanding genetic mechanisms of normal and abnormal development with a particular focus on the skeleton. Mechanisms of gene regulation and how they are influenced by genomic variation are an important aspect of his current work.