Head of the group

Prof. Dr. Stefan Mundlos
Prof. Dr. Stefan Mundlos
External Scientific Member
Phone: (030) 8413 1449
Fax: ++49 30 8413 1385
Room: 1.2.07

Development and Disease Group

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Development and Disease Group

How does the 3D genome govern development in 3D?

How are genes regulated and how does this relate to chromatin folding in 3D within the nucleus? How do enhancers work and how do epigenetic modifications influence their activity? And, finally, how are these processes related to human disease?

The Research Group Development & Disease focuses on studying how the information contained in the genome governs embryonic development. Our goal is to understand the mechanisms of regulation of gene expression during development and to identify how mutations in non-coding regions of the genome disrupting this intricate process can lead to abnormal embryonic development and result in human disease. Ultimately, we aim to understand the cause and pathology of abnormal development in humans manifesting as congenital malformations, which will contribute to the development of better diagnostic tests and, potentially, treatments.

The Research Group works in close collaboration with the Institute for Medical and Human Genetics (IMG) at the Charité – Universitätsmedizin Berlin. The IMG provides a direct clinical connection to our work and the possibility to swiftly translate knowledge gained from the laboratory bench to the clinical bedside.


Our methodology

The disease mechanism underlying many congenital malformations is directly linked to our basic scientific interest: how the genome controls gene expression and embryonic development. The 3D structure of chromatin directly affects the regulation of genes by facilitating and restricting the contacts regulatory elements can make.

Our research group applies chromosome conformation capture technologies (3C) such as 4C and HiC, to measure and visualize chromatin folding. We use the developing mouse embryo as a model to study the organization of chromatin folding in vivo, allowing us to draw parallels with developmental processes relevant to humans. Our research group generates these mouse models using CRISPR/Cas9-based genome editing. We study the developing limb as a model system to understand how gene regulation directs morphogenesis. This offers many advantages, including the existence of comprehensive knowledge on the developmental states and major genes and pathways involved in limb morphogenesis, which allows us to directly link gene regulation, basic developmental processes and phenotype.

We apply whole genome sequencing and other novel technologies to identify disease-causing variants in individuals with congenital malformations. Our studies focus on large genomic rearrangements (known as structural variants) and their effect on gene regulation and the 3D architecture of chromosomes. Because identification of disease-causing variants remains a challenge, we are currently developing and applying a range of bioinformatics tools as well as new experimental assays.




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