Ruchira Singh

The paper develops a μSiM-OBRB model to measure drug transport across the outer blood-retinal barrier, showing drug permeability and disease-relevant phenotypes.

This study uses a 3D iPSC retina model to show that acid ceramidase deficiency causes sphingolipid metabolism changes and photoreceptor degeneration in CLN3 disease, with therapeutic potential for rhAC.

This study investigates how CLN3 mutations impair phagocytosis and cause photoreceptor degeneration in CLN3 disease using patient-derived cells and a miniswine model.

This study shows that TIMP3 mutations in RPE cells increase glycolytic activity and disrupt glutamine metabolism, linking these changes to Sorsbys Fundus Dystrophy.

This paper presents a novel porcine model of CLN3 Batten disease that recapitulates clinical phenotypes observed in humans.