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... (1/3)

@karkam.bsky.social (#1919) presented exciting discoveries on AP-5 disease at at #ARVO2025 This is a novel Lysosomal Macular Dystrophy and also defines a new RPE disease. Great collaboration of the ERDC www.erdc.info @carlorivolta.bsky.social #maculardystrophy #lysosomal #AP5 #RPEdisease

🌟 Big thanks to Viki Kalatzis for organizing & hosting the @progret2024.bsky.social training workshops, and social program in Montpellier making the training week a great success! 👍 Thanks to Rob Collin for coordinating the RT on stem cell and animal models of dominant #IRD & to everyone involved!

Now in print and open access. Thanks @ajhgnews.bsky.social for feature in Editors Corner 🧪🧫🧬

Big thank you 🙏 to Julio Corral-Serrano @cheethamlab.bsky.social @carlorivolta.bsky.social @hardcastlelab.bsky.social @elfridedebaere.bsky.social & many colleagues. Funded by @moorfieldsbrc.bsky.social @wellcometrust.bsky.social ‪@iobswiss.bsky.social‬ @ugent-fge.bsky.social JTC EJPRD Solve-RET FWO

Great multidisciplinary collaboration from the European Retinal Disease Consortium showing clinical variability of dominant ARL3-IRD and ARL3 dysfunction in iPSC-RPE and retinal organoids, for the first time, highlighting its role for retinal homeostasis #ARL3 #G70E #retina #RPE #organoids #ERDC

I'm very proud and happy to share our work of many (many!) years, on a novel ARL3-G70E variant, linked to IRD. 🎉 📖 Read the full paper here: academic.oup.com/hmg/advance-... #ARL3 #retina #cilia #RPE #organoids 🧵