The retina is a thin layer of tissue at the back of the eye that turns light into signals the brain can interpret, allowing us to see. Mutations in certain genes can disrupt this process and cause inherited blindness. In one such gene, INPP5E, mutations can cause blindness alone or broader disorders affecting the retina and multiple organs, known as retinal ciliopathies. Inside cells, the INPP5E protein sits in the primary cilium, a tiny antenna-like structure important for development, but exactly what it does in the human retina remained a mystery. To find out, the researchers grew miniature, lab-made retinas from stem cells (retinal organoids) and studied cells from patients carrying INPP5E mutations. The results show that INPP5E plays a complex, multi-layered role in retinal development, and demonstrate that these lab-grown models are a powerful tool for studying inherited eye diseases linked to the primary cilium.
Kae Whiting (1995) obtained their master’s degree in Integrative Neuroscience from the University of Edinburgh in 2020, after which they started their PhD under the supervision of Ronald Roepman in the Department of Human Genetics of Radboudumc. Currently, they work as a postdoctoral researcher in the Pigino lab at Human Technopole Institute in Milan, Italy.