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 🧪🧫🧬

The American Journal of Human Genetics@ajhgnews.bsky.social · 2y ago

📣New from Gardner et al. 📄Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7

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

Mike Cheetham@cheethamlab.bsky.social · last yr.

Delighted to be part of this study led by Julio Corral-Serrano with @elfridedebaere.bsky.social and @carlorivolta.bsky.social

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 🧵

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

Abstract. Inherited retinal dystrophies (IRDs) are characterized by their high clinical and genetic heterogeneity. Despite significant advances in the iden

academic.oup.com