Gene therapy for retinitis pigmentosa (RP)

Retinitis pigmentosa (RP) is the most common genetic disorder that causes blindness. There is currently no cure for this disease. Mutations in one of more than 50 genes is involved. About 15% of RP are caused by mutations in the pre-mRNA processing factors (PRPFs).

By characterizing the retinal pigment epithelium (RPE) and 3D retinal organoids using iPSCs derived from RP patients with PRPF31 mutations, Buskin et al. reported that mis-splicing of cilia genes caused by PRPF31 mutation implicated in ciliogenesis of photoreceptors leading to RPE defects. Moreover, CRISPR/Cas9 correction of PRPF31 mutation results in reversal of cellular and functional phenotypes in RPE and photoreceptors. Their results provide proof of concept for future therapeutic strategies.

arigo offers quality antibodies to facilitate the research of retinitis pigmentosa and photoreceptor development.

pre-mRNA processing factors