Stefan Mundlos

Professor Stefan Mundlos serves as Director of the Institute for Medical and Human Genetics at Charité - Universitätsmedizin Berlin and leads the Research Group Development & Disease at the Max Planck Institute for Molecular Genetics. His dual appointments position him at the forefront of medical genetics research in Europe.

His educational background includes medical studies at the University of Göttingen, UC San Diego, University of Marburg, Walter and Eliza Hall Institute (Melbourne), and University of Heidelberg. Clinical training in Pediatrics and Human Genetics was completed at Mainz University Hospital, followed by research fellowships at Melbourne's Murdoch Institute and Harvard's Department of Cell Biology. He achieved habilitation in Mainz (1997), received a Professorship nomination in Heidelberg (1999), and relocated to Berlin in 2000.

Research focuses on genetic mechanisms of skeletal development and disease, with particular emphasis on non-coding genomic regulation, 3D genome architecture, and structural variants causing limb malformations. His work integrates advanced genomic technologies including whole-genome sequencing, chromatin conformation analysis, and multi-omics approaches to decipher how genomic variation impacts gene regulation during development. Recent publications demonstrate leadership in identifying enhancer hijacking events, chromatin reorganization in disease, and clinical implementation of genomic diagnostics for rare disorders.

His laboratory maintains strong translational focus, with publications spanning from fundamental mechanisms of enhancer-promoter communication to clinical frameworks for ultrarare disease diagnosis. The 15 most recent articles reveal consistent leadership in skeletal genomics, with emerging work on mitochondrial disorders and cancer genetics.

As group leader at the Max Planck Institute and Director at Charité, he oversees significant research infrastructure and collaborates extensively with clinical genetics networks. His team actively develops diagnostic tools like REEV (variant evaluation platform) and contributes to international nosology projects for genetic skeletal disorders.