Lívia S. Carvalho

NEPTUNE: a neuronal cell death pathway prediction tool used to decipher neurodegeneration using single cell RNA-seq datasets

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

Characterising retinal function with optomotor visual performance in P23H rodent models of retinitis pigmentosa

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.

Pre-clinical validation of a novel AAV-mediated gene therapy for KCNV2 retinopathy improves visual function in a mouse model and expression in patient organoids

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.

Engineering single-AAV CRISPR-Cas13 RNA base editors for treatment of inherited retinal diseases

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.

Increased H3K27 trimethylation contributes to cone survival in a mouse model of cone dystrophy

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.