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Julio Corral-Serrano @jcorralserrano.bsky.social · 04/05/2026

🙏 Huge thanks to all collaborators, and especially to the patients and families who make this research possible. #retinalorganoids #cilia #stemcellresearch

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Julio Corral-Serrano @jcorralserrano.bsky.social · 04/05/2026

• 💊 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.

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Julio Corral-Serrano @jcorralserrano.bsky.social · 04/05/2026

• 🧫 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

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Julio Corral-Serrano @jcorralserrano.bsky.social · 04/05/2026

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 (2/4)

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Julio Corral-Serrano @jcorralserrano.bsky.social · 04/05/2026

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)

biorxiv.org

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Reposted by Julio Corral-Serrano

Elfride De Baere @elfridedebaere.bsky.social · 05/05/2025

@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

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Reposted by Julio Corral-Serrano

Elfride De Baere @elfridedebaere.bsky.social · 03/04/2025

🌟 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!

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Reposted by Julio Corral-Serrano

hardcastlelab.bsky.social @hardcastlelab.bsky.social · 06/03/2025

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

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Reposted by Julio Corral-Serrano

Elfride De Baere @elfridedebaere.bsky.social · 03/03/2025

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

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Julio Corral-Serrano @jcorralserrano.bsky.social · 03/03/2025

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

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Reposted by Julio Corral-Serrano

Elfride De Baere @elfridedebaere.bsky.social · 03/03/2025

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

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Julio Corral-Serrano @jcorralserrano.bsky.social · 03/03/2025

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.

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Julio Corral-Serrano @jcorralserrano.bsky.social · 03/03/2025

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.

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Julio Corral-Serrano @jcorralserrano.bsky.social · 03/03/2025

👁️ 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)

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Julio Corral-Serrano @jcorralserrano.bsky.social · 03/03/2025

🧪 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).

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Julio Corral-Serrano @jcorralserrano.bsky.social · 03/03/2025

🔬 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.

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Julio Corral-Serrano @jcorralserrano.bsky.social · 03/03/2025

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

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