Katarína Štingl

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.

This study uses multimodal imaging to show microstructural changes in visual pathways associated with retinal remodeling in retinitis pigmentosa.

This study uses retinal organoids from USH1C patients to show disrupted Muller glia signaling leads to retinal degeneration and loss of integrity.

EDSpliCE corrects splicing defects in inherited retinal dystrophy using CRISPR-Cas9 with a single gRNA and exonuclease, showing effective splicing rescue in minigene assays and patient-derived fibroblasts.

The paper investigates harmonin expression and localization in human retinas to understand USH1C pathophysiology and potential gene therapy approaches.