Spatial Genome Architecture in Development and Disease 

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Priority Programme "Spatial Genome Architecture in Development and Disease" (SPP 2202)

Project Description (SPP 2202)

Already from the first complete draft of the human genome, it became apparent that the linear genetic information would not suffice to fully explain its many genomic functions and their complex regulation. What differentiates the identity and functions of individual cells and tissues is not their genomic content, but the regulation of each of their ~ 20,000 genes. Gene regulation is critically dependent on proximal and distal regulatory elements that act via chromatin looping to ensure physical proximity with their target promoters. The resulting spatial (3D) organization of chromosomes in the nucleus is now understood to have profound effects on gene regulation and transcriptional output.

Major aims

© Nature Reviews Gentics
© Nature Reviews Gentics

To exploit this emerging field of 3D genomics, The SPP will have the following major aims:

  • (1) develop and apply novel and existing technologies to address the long-standing question of how chromosome conformation is regulated;
  • (2) functionally dissect the impact of 3D chromatin folding on in in vitro and in vivo models during cell stimulation, differentiation or development;
  • (3) investigate the role of 3D chromatin folding in disease pathology to understand this under-appreciated disease mechanism;
  • (4) develop and apply novel computational tools and models to predict how 3D genome folding dynamics translate into changes in genomic output;
  • (5) bring together an interdisciplinary group of scientists to advance and consolidate this emerging topic within the German research community.

By focusing on chromatin folding and gene regulation, this SPP addresses a field of biomedicine that goes far beyond the study of genes and their function, to fully understand their regulation. Building on one of the most important discoveries in Genomics in the past decade, we take the next step in investigating how chromatin folding governs differentiation, development and disease, thereby addressing a pertinent question in Life Sciences: how cellular individuality is achieved at a genomic level. Once deciphered, these rules will allow us to predict how different cells respond to signaling cues upon development or disease manifestation.

 Term: since 2019

Program committee

Professor Dr. Stefan Mundlos (coordinator)
Charité – Universitätsmedizin Berlin
Campus Virchow-Klinikum
Institut für Medizinische Genetik und Humangenetik
Augustenburger Platz 1
13353 Berlin 

Dr. Argyris Papantonis (co-coordinator)
Professor for Translational Epigenetics
Institute of Pathology
University Medical Center Göttingen
Robert-Koch-Str. 40
37075 Göttingen
Tel. +49 551 39 65734

Prof. Dr. Ana Pombo
Humboldt University & Max-Delbrück Center for Molecular Medicine, Berlin
Group Head (W3-Professor) for Epigenetic Regulation & Chromatin Architecture
(Molecular & Cellular Biology)

Dr. Eileen Furlong
European Molecular Biology Laboratory (EMBL), Heidelberg
Head of Genome Biology Unit & Senior Group Leader
(Systems Biology & Genomics)




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15th - 17th April 2020: Light-Sheet Microscopy Workshop, Ludwig-Maximilians-Universität München

Topic: Imaging

Professor Dr. Heinrich Leonhardt | Hartmann Harz
Ludwig-Maximilians-Universität München (LMU)
Department Biologie II
Arbeitsgruppe Humanbiologie und Bioimaging 

2020: II. Workshop, Münster

Topic: Hi-C analysis

Further information will follow

2020: III. Workshop

Topic: single cell-seq

Further information will follow