Alicia A. Brunet

NEPTUNE identifies neuronal cell death markers from single-cell RNA-seq data, revealing non-apoptotic mechanisms in photoreceptor degeneration in rd1 mice.

This study compares electrical and behavioural measures of vision in rodent models of inherited blindness, revealing that retinal dysfunction appears well before measurable vision loss.

This paper demonstrates that AAV-mediated gene therapy restores retinal function and KCNV2 expression in a mouse model of KCNV2 retinopathy and human retinal organoids.

This paper develops an RNA base editor using CRISPR-Cas13 and ADAR2DD to correct mutations in inherited retinal diseases, showing up to 60% editing efficiency in vitro and partial rescue in mouse models.

This study investigates the effects of a histone demethylase inhibitor on cone cell survival in a mouse model of cone dystrophy, finding epigenetic modulation improves cone survival.