Susanne Roosing et al. from Radboud University Medical Center Identify a duplication in the RP17 locus in an individual with pathogenic CEP290 variants. doi.org/10.1167/iovs.67.10.1
Mike Cheetham
@cheethamlab.bsky.social
Retinal cell biologist studying IRDs. Likes organoids, Alfa Romeo and Leeds United
My home institute, @ucleye.bsky.social, is looking for a new Director! www.veredus.co.uk/job/job-1183a/
Director of the UCL Institute of Ophthalmology - REF 1183 | Veredus
University College London Director of the UCL Institute of Ophthalmology Location: London Salary: An attractive remuneration package UCL is a world leading, global university with a community of more...
veredus.co.uk
Come and join us!
UCL Institute of Ophthalmology@ucleye.bsky.social · 2mo agoWe have two Research Fellow vacancies available to join @cheethamlab.bsky.social at @ucleye.bsky.social. The Research Fellows will explore molecular mechanisms of retinal degeneration and test potential therapeutic approaches. These positions close on 8 July. www.ucl.ac.uk/work-at-ucl/...
We have two Research Fellow vacancies available to join @cheethamlab.bsky.social at @ucleye.bsky.social. The Research Fellows will explore molecular mechanisms of retinal degeneration and test potential therapeutic approaches. These positions close on 8 July. www.ucl.ac.uk/work-at-ucl/...
UCL – University College London
UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).
ucl.ac.uk
Love vision and want to help cure disease? We have a vacancy tor a post-doc come and join our team! www.ucl.ac.uk/work-at-ucl/...
UCL – University College London
UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).
ucl.ac.uk
New post: Prof Angray Kang End of an Era https://multiple-sclerosis-research.org/2026/04/prof-angray-kang-end-of-an-era/
Our new paper is out today in @arvoiovs.bsky.social We provide evidence that the connecting cilium rootlet in mouse photoreceptors may act as a scaffold that supports ER positioning, enabling it to branch and form membrane contact sites with other cellular membranes. @ucleye.bsky.social
The P23H Rhodopsin Mouse Model Reveals a Novel Interaction Between the Endoplasmic Reticulum and Connecting Cilium Rootlet Within Photoreceptors | IOVS | ARVO Journals
iovs.arvojournals.org
Research Assistant in Ocular Cell Biology position closes on 25 February. This would suit an ambitious graduate with a background in the mechanisms of repeat expansion biology, neurodegeneration, and human disease models. www.ucl.ac.uk/work-at-ucl/...
UCL – University College London
UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).
ucl.ac.uk
Happy 200th birthday, UCL! Today marks 200 years since UCL was founded, London's very first university. We are very proud to be part of its rich and diverse community of scientists, students and researchers. #UCL200
Amazing science being presented @rd2025.bsky.social including from our team @ucleye.bsky.social 🧫🧬🧪🔬
An absolute scam. Does this serve science? No it does not. www.thebookseller.com/news/springe...
Springer Nature's revenue increases to €926m as adjusted operating profit soars
Springer Nature's group revenue has risen by 6% to €926m (£800m) in the first half of 2025, while adjusted operating profit (AOP) was up by 10% to €241m (£208m).
thebookseller.com
Everyone at @ucleye.bsky.social has been deeply saddened by the passing of a highly esteemed colleague in June 2025. www.ucl.ac.uk/news/2025/ju...
Tribute to eye treatment pioneer Professor Pete Coffey
UCL colleagues have paid tribute to world-leading eye researcher Professor Pete Coffey, who pioneered a treatment enabling people whose vision had been destroyed by disease to see again.
ucl.ac.uk
Congratulations Freddie on your PhD defence 🎉🥳 huge thank to the examiners Chris Inglehearn and Dan Gore 🙏
It’s incredibly hard to express what Professor Pete Coffey meant to so many of us. The Macular Society has written a beautiful tribute to Pete and I'm honoured to have contributed a few words. Thank you, my friend, for so many happy days. www.macularsociety.org/about/media/...
Tributes paid to pioneering eye researcher Professor Pete Coffey
Tributes have been paid to one of the world’s top eye researchers, Professor Pete Coffey, who has sadly passed away after a long illness.
macularsociety.org
Our Deputy Director Prof Alison Hardcastle @hardcastlelab.bsky.social, features in the video of the launch of a new Centre of Excellence for eye health in Warsaw: a partnership between @ucleye.bsky.social, ICTER, and the Institut de la Vision at Université Sorbonne. www.ucl.ac.uk/ioo/news/202...
IoO represented at launch of Poland's new teaming project
The official ceremony launched three new Teaming for Excellence projects funded by the European Union under the Horizon Europe framework programme for research and innovation.
ucl.ac.uk
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
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
🧪 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).
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
academic.oup.com/hmg/advance-...
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
This #RareDiseaseDay join our #Research Roadshow at Moorfields! Today: 14:00 - 16:00 @ Opposite Costa - Moorfields Cheetham lab: Discover how genes can both cause problems and offer solutions. #RetinitisPigmentosa #LeberCongenitalAmaurosis & #DominantOpticAtrophy @moorfieldsfriends.bsky.social
Amazing results of gene therapy in very young children from @ucleye.bsky.social 👏👏 www.thelancet.com/journals/lan...
Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study
Our findings indicate that young children with AIPL1-related retinal dystrophy benefited substantially from subretinal administration of rAAV8.hRKp.AIPL1, with improved visual acuity and functional vi...
thelancet.com
Thanks to @moorfieldsbrc.bsky.social Moorfields Eye Charity @wellcometrust.bsky.social @fightblindness.bsky.social Fight for Sight amongst others for support.
Mike Cheetham@cheethamlab.bsky.social · 2y agoactaneurocomms.biomedcentral.com/articles/10.... Delighted to share a paper from Michael Whitehead and the rest of the team on OPA1 mediated dominant optic atrophy.