NIH R01 · 2024
Mechanisms to Rescue Photoreceptors in GUCY2D and GUCA1A Retinopathies
PROJECT SUMMARY A diverse group of autosomal-dominant mutations that cause human blindness as a result of rod and cone degeneration includes multiple mutations in two genes, GUCY2D coding for retinal guanylyl cyclase 1 (RetGC1) and GUCA1A coding for guanylyl cyclase activating protein 1 (GCAP1). These mutations explicitly trigger photoreceptor death via a common mechanism – by abnormally elevating cyclic GMP production in the dark. Although the biochemical origin of the dominant GUCY2D and GUCA1A retinopathies became better understood over the past decade, potential approaches to their therapy, such as using gene editing or RNA interference to suppress particular alleles causing the…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.