Stephen H. Tsang

This paper develops an allele-specific ASO strategy, SNARE, that selectively suppresses mutant RHO transcripts in RHO-linked retinitis pigmentosa, demonstrating functional rescue and retinal preservation in both in vitro and in vivo models.

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

The paper shows that FGF and Wnt signaling gradients determine phase transitions in vertebrate eye cup development, specifying cell fates through their combinatorial code.

The paper evaluates Cas9-induced repair outcomes at the EYS locus in human embryos, showing microhomology-mediated end joining restores reading frames without mosaicism, while unrepaired breaks lead to chromosome loss.

This study shows that PKM2 ablation improves photoreceptor survival and function in a preclinical RP model, suggesting metabolic reprogramming as a potential treatment.