Alterations in 3D genome organization can cause human birth defects by disrupting the physical communication between genes and DNA sequences controlling their expression. However, these disease mechanisms can be difficult to study. With the support of the Else Kröner Fresenius Foundation, our laboratory has implemented a new experimental approach to investigate how changes in 3D genome organization can cause human disease. Briefly, cells are isolated from patients with structural variants and then reprogrammed towards a pluripotent state in which cells can be differentiated into any human cell type of interest. Subsequently, these differentiated cells are analysed with novel methods that can uncover how the structural variants alter 3D genome organization and gene expression patterns.

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