Revital Bronstein

The paper evaluates methods for detecting differential gene expression, differential transcript expression, and alternative splicing using internal synthetic controls in RNA-seq data.

The paper combines whole genome sequencing and retinal organoid transcriptome analysis to identify and validate a novel non-coding pathogenic variant in a family with an unresolved genetic diagnosis.

This study shows that AAV-mediated gene augmentation therapy can restore critical functions in PRPF31 mutant iPSC-derived RPE cells, providing proof-of-concept for treating PRPF31-related retinitis pigmentosa.

The paper generates patient-specific retinal organoids and RPE from RP type 11 patients to show PRPF31 mutations cause retinal-specific splicing defects and structural/functional impairments, which are corrected by in situ gene editing.