Alexander J. Smith

Cell-autonomous restoration of splicing homeostasis and RP11 phenotype in patient-derived RPE and retinal organoids by PRPF31.AAV gene therapy

This study demonstrates that AAV-mediated PRPF31 gene therapy restores splicing homeostasis and rescues RP11 phenotypes in patient-derived RPE and retinal organoids.

Human macula formation involves two waves of retinoic acid suppression via CYP26A1 that modulate cell cycle exit and cone subtype specification

This study examines CYP26A1's role in human macula development, showing two RA suppression waves that affect cell cycle exit and cone subtype specification.

Targeting lateral inhibition to improve vision following macular degeneration

The paper identifies loss of lateral inhibition as a mechanism reducing visual function in macular degeneration and suggests modulating this inhibition could improve vision.

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease

This study shows that neonatal brain-directed gene therapy using AAV9-CLN6 significantly improves survival, motor function, and reduces neuropathology in a mouse model of CLN6 Batten disease.