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

Dr Francesco Saverio TEDESCO (primary)
Department of Cell and Developmental Biology & Great Ormond Street Institute of Child Health
University College London
Professor Peter S. ZAMMIT (secondary)
Randall Centre for Cell and Molecular Biophysics
King's College London


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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[5] Scharner J, Figeac N, Ellis JA, Zammit PS. Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies. Gene Ther. 2015 Jun;22(6):503-15.

Genes, development and STEM* approaches to biology
Area of Biology
BiotechnologyCell Biology
Techniques & Approaches
BiochemistryBioinformaticsBiophysicsChemistryEngineeringGeneticsImage ProcessingMathematics / StatisticsMicroscopy / ElectrophysiologyMolecular BiologySimulation / Modelling