Swanand Koli

This study shows that gene supplementation with ELP1 in a mouse model of familial dysautonomia rescues retinal structure and function, suggesting it as a potential therapy for FD-associated optic neuropathy.

This study identifies PRSS56 as a retinal factor promoting ocular axial growth and links it to myopia susceptibility through genetic and functional analyses.

This study uses AAV2-delivered exon-specific U1 snRNA to correct ELP1 splicing and rescue optic neuropathy in a FD mouse model.

This study uses multi-omic analysis to identify transcriptional and spatial changes in Mfrp-/- mice, revealing photoreceptor loss and gene regulatory disruptions during retinal degeneration.

The paper identifies Tyr as the gene responsible for the Cctq1a QTL and shows that developmental light exposure interacts with genotype to influence central corneal thickness.

This study shows GLIS1 regulates trabecular meshwork function and intraocular pressure, with a human variant linked to glaucoma.

The paper identifies ADAMTS19 as a retinal factor that compensates for impaired ocular growth in PRSS56 and MFRP mutant mice, highlighting its role in axial length regulation.