Leber congenital amaurosis caused by CRX mutations is characterised by dysfunction and loss of photoreceptors at the early stages of the disease. Thus, a robust in vitro model could enhance the design of gene-editing-based therapies. Here, patients derived human induced pluripotent stem cells with a dominant disease-causing mutation in CRX were used to develop retinal organoids that can reproduce key physiopathological features. The results showed that diseased organoids recapitulate several characteristics of the in vivo pathology, like immature and dysfunctional photoreceptor cells. Furthermore, CRISPR/Cas9-based gene editing was used to knock out the mutant CRX and this led to a partial improvement of photoreceptor phenotype. Overall, the researchers demonstrate the viability of pluripotent stem cells-based organoids to investigate dominant genetic diseases and suggest a potential gene therapy strategy to improve the pathological phenotype.
Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model
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