New generation CRISPR technology lays foundation for therapeutics to treat a wide range of inherited ocular diseases
October 19, 2020
Image of mouse retinas with and without gene therapy treatment

A mutation in an inherited blindness mouse model abolishes the expression of RPE65, a key enzyme in a visual cycle, in the RPE cells. Base editing treatment can correct the mutation and restore functional RPE65 (green), thereby restoring vision in mice. Image credit: Nature Biomedical Engineering

A breakthrough study, led by researchers from the University of California, Irvine, results in the restoration of retinal and visual functions of mice models suffering from inherited retinal disease. The study, published in Nature Biomedical Engineering, illustrates the use of a new generation CRISPR technology and lays the foundation for the development of a new therapeutic modality for a wide range of inherited ocular diseases caused by different gene mutations.

Using an LCA mouse model harboring a clinically relevant pathogenic mutation in the Rpe65 gene, the UCI team successfully demonstrated the therapeutic potential of base editing for the treatment of LCA and by extension other inherited blinding diseases. Among other results, the base editing treatment restored retinal and visual function in LCA mice to near-normal levels.