Abstract
Induced pluripotent stem cells (iPSCs), combined with CRISPR genome editing technologies, provide powerful tools for disease modelling to both improve understanding of pathology and develop next-generation therapies. Here, these cutting-edge technologies will be applied to diseases caused by cell nuclear defects. Lamins assemble into the nuclear lamina, providing structural support and regulating gene expression. Mutant lamin A/C cause a plethora of diseases affecting multiple tissues called ‘laminopathies’. We have modelled skeletal muscle laminopathies by differentiating LMNA-mutant iPSCs into muscle tissue. Now we will use this proven platform to study pathophysiology and develop treatments for laminopathies affecting nervous and cardiac tissues.
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