Inherited retinal diseases are a group of rare eye disorders that cause progressive vision loss due to photoreceptor degeneration. Proper trafficking of phototransduction proteins is essential for photoreceptor function and survival, and its disruption leads to cellular stress and degeneration. Despite its importance, the mechanisms underlying defective ciliary transport in human photoreceptors remain poorly understood. This project aims to establish and validate a novel system to study light-induced protein trafficking in retinal organoids (RO) derived from Bardet-Biedl Syndrome mutant hiPS cells. These ROs reproduce key features of the human retina, allowing real-time investigation of light-induced protein transport. Through precise photostimulation, we will dynamically monitor opsin and arrestin trafficking upon light activation. This approach will provide the first direct evidence of light-induced ciliary trafficking in human photoreceptors and guide drug development in retinal ciliopathies.

Cíle udržitelného rozvoje

Masarykova univerzita se hlásí k cílům udržitelného rozvoje OSN, jejichž záměrem je do roku 2030 zlepšit podmínky a kvalitu života na naší planetě.