Topic: PRPF31

Our research focuses on the elucidation of the PRPF31 gene mutation's impact on retinal cells, specifically within the context of Retinitis Pigmentosa (RP), employing human-induced pluripotent stem cells (hiPSCs). These hiPSCs, sourced from a patient with severe RP harboring the PRPF31 mutation and a healthy control, were differentiated into retinal organoids (ROs) using a refined protocol. The study's methodology encompassed a range of techniques including flow cytometry for assessing pluripotency, immunofluorescence and qPCR for progenitor and photoreceptor-specific markers, microelectrode a

The intricate development of the visual system involves spatial and temporal coordination, especially the projection of retinal ganglion cell (RGC) axons to post-synaptic targets in the brain. Although retinal organoids (ROs) have mimicked retinal development, their limitations in modeling RGC projections prompted the creation of in vitro assembloids integrating retinal and brain organoids. This study aims to elucidate the projection patterns of the human visual system of inherited retinal dystrophy (IRD) subjects and how this might influence RGC development and survival while providing answer