Combining Human Induced Pluripotent Stem Cells and CRISPR-Cas Gene Editing to Model and Develop New Therapies for Nuclear Envelope Diseases

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.