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.

Analysis of mutant cells combined with biochemical experiments reveals that CEP78 is recruited to the centrosome by CEP350 and regulates ciliogenesis and ciliary length control through CP110-dependent and CP110-independent mechanisms, respectively.

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.

The retinoid-binding protein RLBP1 in the retinal pigment epithelium is crucially involved in cone photoreceptor visual pigment recycling and mimics the human eye disease with retinal lipid deposits when mutated.

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.

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.

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.

The RAB-28 GTPase regulates ciliary extracellular vesicle shedding, which may be important for neuron-glia communication.

NMNAT1, a ubiquitously expressed metabolic enzyme linked to inherited blinding disease, is crucial for the proper differentiation of photoreceptor cells and subsequent survival of multiple cell types in the retina.