Laura Kuehlewein

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.

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

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.