The integrated analysis of multi-omics and functional evidence both in vitro and in knock-in mouse models reveal novel gain-of-function pathogenic mechanisms of dominant CRX HD missense mutations.

Silencers and enhancers targeted by a common transcription factor in photoreceptors are distinguished by the number and diversity of binding transcription factor binding sites they contain.

Regulating rod gene expression with a small molecule ligand for the orphan nuclear receptor Nr2e3 rescues photoreceptors from degeneration in a mouse model of retinitis pigmentosa.

Chimeric RNAs are widely distributed spatiotemporally during human retinal development and have important regulatory functions, such as silencing of CTNNBIP1-CLSTN1 biasing the progenitor cells toward the RPE cell fate at the expense of neural retinal cell fates.

Stem cell-derived retinal organoids are a useful tool to understand the pathobiology of devastating retinal degenerations and can aid to identify and validate therapeutics to promote rescue.

Photoreceptor genomic binding of a 20 base-pair-long DNA sequence by a synthetic DNA-binding protein turns off Rhodopsin expression.

Genome-wide analysis of DNA methylation and accessible chromatin shows that retinal rods and cones have distinct epigenomic features that reflect differences in their development and function.

Study of human, knockout mice, and in-vitro models revealed CEP78 absence is the genetical cause of cone-rod dystrophy and male infertility with multiple morphological abnormalities of sperm flagella, CEP78 interacted with IFT20 and TTC21A to modulate cilliogenesis and centriole length.

Skin cells from a patient with retinitis pigmentosa have been used to generate induced pluripotent stem cells, which could potentially form the basis of new treatments for this disease.