@ByrneLabSciencePRPF31 #RetinitisPigmentosa is a #retinal disease caused by haploinsufficiency. #PRPF31 mutations are also homozygous lethal, which makes creating an animal model challenging. We tackled this problem by knocking out PRPF31 using a #CRISPR construct in adults using #AAV – and then showed that #GeneTherapy could prevent retinal degeneration in vivo. Out now in #NatureCommunications. https://www.nature.com/articles/s41467-022-35361-8
Gene augmentation prevents retinal degeneration in a CRISPR/Cas9-based mouse model of PRPF31 retinitis pigmentosa - Nature Communications
PRPF31-RP is a blinding disease, caused by insufficient levels of a pre-mRNA splicing factor. Here, the authors show that CRISPR-Cas9 editing of the Prpf31 gene in mice leads to retinal degeneration similar to human patients, and, in the same model, demonstrate benefits from PRPF31 gene therapy.