Robin R. Ali

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

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

This paper describes a protocol to generate cortical brain organoids and optic nerve-like structures from retinal confluent cultures of pluripotent stem cells, showing transcriptional similarity to fetal cortex and functional network activity.

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

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.

The paper generates patient-specific retinal organoids and RPE from RP type 11 patients to show PRPF31 mutations cause retinal-specific splicing defects and structural/functional impairments, which are corrected by in situ gene editing.