PSCs-derived cells from patients are used in vitro to recreate specific pathologies. The specific cell type affected in the pathology is at the base of the model. For example, motoneurons are used to study spinal muscular atrophy (SMA) and cardiomyocytes are used to study arrythmia. This can allow for a better understanding of the pathogenesis and the development of new treatments through drug discovery. Immature PSC-derived cell types can be matured in vitro by various strategies, such as in vitro ageing, to modelize age-related disease in vitro.
Major diseases being modelized with PSCs-derived cells are amyotrophic lateral sclerosis (ALS), Alzheimers (AD), Parkinsons (PD), fragile X syndrome (FXS), Huntington disease (HD), Down syndrome, Spinal muscular atrophy (SMA), muscular dystrophies, cystic fibrosis, Long QT syndrome, and Type I diabetes.