Modelling Fabry disease with kidney organoids derived from human embryonic stem cells using CRISPR-Cas9 mediated gene editing

Abstract

Using gene editing to generate a nephron organoid model which recapitulates the hallmarks of human kidney disease is an attractive strategy, especially due to the potential for drug discovery in the context of rare genetic diszmfltmxeases. The present study aimed to develop an organoid-based Fabry disease model derived from human embryonic stem cells which have undergone CRISPR/Cas9-mediated α-galactosidase A gene knockout. Fabry disease modelling via kidney organoids holds promise for elucidating disease mechanisms and establishing in vitro screening platform therapeutic drug screening approaches.