Using retinal organoids, we find that reduced YAP1 function disrupts early retinal progenitor development.

A step toward better variant interpretation in developmental eye disorders.

📄 doi.org/10.1016/j.bb...

👏 Great team effort!

#Coloboma #StemCells #Organoids #Genetics #DevelopmentalBiology

In our new paper, we show that YAP1 variants have distinct effects depending on their location in the protein, but all converge on reduced YAP1 transcriptional activity.

Microscopy image of the optic fissure in human embryos

How do YAP1 variants cause ocular coloboma? 👁️

Coloboma is a congenital eye disorder caused by a tissue fusion defect, affecting ~1 in 5000 births and leading to visual impairment.