🙏 Huge thanks to all collaborators, and especially to the patients and families who make this research possible.
#retinalorganoids #cilia #stemcellresearch
• 💊 Encouragingly, these phenotypes can be partially rescued with small molecule treatment
Overall, this work highlights the importance of human in vitro models to study retinal ciliopathies and opens potential therapeutic avenues.
In this study, we combine retinal organoids, RPE cells, and mouse models to understand how IFT140 variants impact retinal homeostasis.
🔬 Key highlights:
• 🧬 Comparison of mouse and human models reveals important species-specific differences, underscoring the need for human stem cell models
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I’m very happy to share our latest work exploring the mechanisms underlying IFT140-associated retinal dystrophy using human stem cell models, on biorxiv.
🔗 www.biorxiv.org/content/10.6...
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• 🧫 First study investigating IFT140 retinal disease using human retinal organoids and iPSC-derived RPE
• 🔍 Loss of IFT140 disrupts connecting cilium compartmentalisation, leading to protein accumulation in the connecting cilium and outer segments of photoreceptors