Based on engineered or bacterial nucleases, the development of genome editing
technologies has opened up the possibility of directly targeting and modifying genomic …

Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …

Retinitis pigmentosa (RP) is the most common cause of inherited blindness and is
characterised by the progressive loss of retinal photoreceptors. However, RP is a highly …

Numerous protocols have been described for producing neural retina from human
pluripotent stem cells (hPSCs), many of which are based on the culture of 3D organoids …

Rod and cone photoreceptors are light-sensing cells in the human retina. Rods are
dominant in the peripheral retina, whereas cones are enriched in the macula, which is …

Background The retina, as part of the central nervous system (CNS) with limited capacity for
self-reparation and regeneration in mammals, is under cumulative environmental stress due …

Inherited retinal diseases (IRDs) cause progressive loss of light-sensitive photoreceptors in
the eye and can lead to blindness. Gene-based therapies for IRDs have shown remarkable …

Sperm motility is vital to human reproduction. Malformations of sperm flagella can cause
male infertility. Men with multiple morphological abnormalities of the flagella (MMAF) have …

Background Studies have shown that complex structural variants (cxSVs) contribute to
human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs …

Purpose Current sequencing strategies can genetically solve 55–60% of inherited retinal
degeneration (IRD) cases, despite recent progress in sequencing. This can partially be …