Prof Stephen Mundlos
Director and Head of Group
The Research Group Development & Disease focuses on fundamental questions regarding normal and abnormal development.We use the developing limb as a model system to study how gene regulation affects and controls morphogenesis. This includes 3D chromatin architecture and how it affects long-range regulation, as well as the function of cis-regulatory elements (enhancers) and their control by transcription factors. For many projects, human diseases serve as a starting point to investigate the developmental pathology of non-coding regulatory mutations. We use a combination of state of the art technology including CRISPR/Cas9 and chromosome conformation capture to investigate this process during development in vivo. The research group works in close collaboration with the Institute for Medical and Human Genetics (IMG) at the Charité - Universitätsmedizin Berlin. The IMG provides clinical and diagnostic genetic service for the Charité and beyond. The institute has a research focus on the analysis of genomes for the identification of disease-associated variants and the development of genetic test systems and their translation into clinical practice. We closely collaborate with the Berlin-Brandenburg Center for Regenerative Medicine (BCRT). A shared infrastructure, exchange of technical achievements and expertise, as well as common research goals ensure a successful interdisciplinary approach to studying the mechanisms of genetic disease and the translation of modern genomics into the clinics.
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