Julio C. Corral-Serrano

This study develops an allele-specific antisense oligonucleotide to target EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy, reducing extracellular deposits and intracellular lipid accumulation.

This study uses human stem cell models to investigate IFT140 variants causing retinal dystrophy and identifies eupatilin as a potential therapeutic for cilia defects.

This paper investigates the effects of eupatilin on cilia defects in CEP290-related retinal disease models and finds it improves cilium formation and reduces rhodopsin retention.