@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

Thank you Elfride and team for all the help with this work! 🙏

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

Thank you to our funders @moorfieldsbrc.bsky.social @wellcometrust.bsky.social moorfields eye charity and other funders, the patients and their families for making this research possible.

This was a great collaborative effort from the European Retinal Disease Consortium, @elfridedebaere.bsky.social @carlorivolta.bsky.social @cheethamlab.bsky.social @hardcastlelab.bsky.social and many other colleagues. Grateful to be part of it.

👁️ The phenotypic variability associated with this ARL3 variant shows that caution might be required in diagnosing individuals with ARL3-associated retinopathy.

⚡ Our work highlights that ARL3 is crucial for proper cilia function in the retina (RPE and photoreceptors)

🧪 We modelled this variant for the first time using human stem cell derived RPE and retinal organoids, showing ciliary trafficking defects that are not present in other cell types (like skin fibroblasts).

🔬 We report a novel variant in ARL3, p.(Gly70Glu) or G70E, that causes non-syndromic autosomal dominant IRD in ten individuals from five different families.

📍 The clinical presentation of these individuals is variable, ranging from rod-cone dystrophy to cone-rod dystrophy with photophobia.

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

🧵

Thank you so much, Mike. This work wouldn't have been possible without all your help!