Salome Spaag

A mutation-agnostic and allele-specific ASO strategy demonstrates potent functional rescue and retinal preservation in RHO-linked retinitis pigmentosa

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.

HDAC1 has a role in double strand break repair by regulating γH2AX signalling

This study shows HDAC1 regulates DNA double-strand break repair by controlling γH2AX phosphorylation, highlighting a role for histone acetylation in DNA damage response.

EDSpliCE, a CRISPR-Cas9 gene editing platform to rescue splicing, effectively corrects inherited retinal dystrophy-associated splicing defects

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.