Mike Cheetham

Classic cars near the Rudolfinum Prague #RD20205 @bwjones.bsky.social

We’ll done Owen 👏 great talk at @rd2025.bsky.social in Prague

Amazing science being presented @rd2025.bsky.social including from our team @ucleye.bsky.social 🧫🧬🧪🔬

We’ll done Davide 👏 excellent talk @rd2025.bsky.social

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).

An absolute scam. Does this serve science? No it does not.

www.thebookseller.com/news/springe...

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.

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...

Congratulations Freddie on your PhD defence 🎉🥳 huge thank to the examiners Chris Inglehearn and Dan Gore 🙏

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.

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/...

Congratulations Owen and many thanks to Alex and Amanda.

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.

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...

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

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

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

🧵

🧪 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

And @hardcastlelab.bsky.social supported by @moorfieldsbrc.bsky.social @wellcometrust.bsky.social and many others

And @hardcastlelab.bsky.social supported by @moorfieldsbrc.bsky.social @wellcometrust.bsky.social and many others

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

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/hmg/advance-...

Two women stand next to a scientific poster on inherited blindness and treatment research, smiling at the camera. One wears a green sweater with a lanyard and ID badge, while the other wears a blue striped shirt. A banner for Moorfields Biomedical Research Centre is visible to the right, and the setting appears to be a research or healthcare facility.

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

Gene therapy experiment treats rare childhood blindness - BBC News Four toddlers born with a rare eye condition have seen "life-changing improvements", say UK doctors.

www.bbc.co.uk/news/article...

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...

Amazing results of gene therapy in very young children from @ucleye.bsky.social 👏👏 www.thelancet.com/journals/lan...

Thanks to @moorfieldsbrc.bsky.social Moorfields Eye Charity @wellcometrust.bsky.social @fightblindness.bsky.social Fight for Sight amongst others for support.

Disruption of mitochondrial homeostasis and permeability transition pore opening in OPA1 iPSC-derived retinal ganglion cells - Acta Neuropathologica Communications Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, characterised by the selective loss of retinal ganglion cells (RGCs). Over 60% of DOA cases are caused by pathogenic variant...

actaneurocomms.biomedcentral.com/articles/10.... Delighted to share a paper from Michael Whitehead and the rest of the team on OPA1 mediated dominant optic atrophy.

Thanks to @fightblindness.bsky.social @wellcometrust.bsky.social and @moorfieldsbrc.bsky.social for support amongst others and all the staff @ucleye.bsky.social

Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids - Acta Neuropathologica Communications Bialleleic pathogenic variants in LCA5 cause one of the most severe forms of Leber congenital amaurosis, an early-onset retinal disease that results in severe visual impairment. Here, we report the us...

Delighted to share our new publication on modelling childhood blindness in retinal organoids and rescue of some of the phenotypes with small molecules great work by Dimitra Athanasiou and the team actaneurocomms.biomedcentral.com/articles/10....

An infographic titled 'Research Simplified' showcases four significant advances in retinal research with icons for visual emphasis: A target icon denotes 'Genetic cause of rare inherited retinal dystrophy discovered.' An eye icon represents 'Stem cell technology and lab-grown retinas reveal genetic clues.' A DNA strand icon highlights 'Jumping chromosomes disrupt how genes work.' A handshake icon symbolizes 'Paving the way for earlier diagnosis.' The footer features the NIHR Moorfields Biomedical Research Centre logo.

A study in @ajhgnews.bsky.social has discovered a genetic cause of a rare eye condition called X-linked inherited retinal dystrophy. Innovation solved a ten-year mystery across three generations.

🔗 buff.ly/42IS7pD

Audio description: buff.ly/4gxivWK
hardcastlelab.bsky.social‬ @ucleye.bsky.social

📣 Very important paper alert! 📣
Exciting study highlighting complex interchromosomal insertions in human (X-linked retinal) disease and a wide variety of patient-derived models to study transcriptional and epigenomic effects.
Congrats to @hardcastlelab.bsky.social @cheethamlab.bsky.social et al. 👏👏👏

Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7 Inter-chromosomal insertions within a palindrome on Xq27 are associated with rare X-linked diseases, but how they cause disease is unknown. We describe two retinal dystrophy families with different in...

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

Great story from @hardcastlelab.bsky.social lab with Jessica Gardner. Proud to have been able to help.

Alice Davidson stands at a podium speaking at the Festival of Genomics & Biodata in London, with a large event backdrop displaying sponsors and the festival logo in the background

Nikolas Pontikos presents on genetic eye diseases at the Festival of Genomics & Biodata in London, with a slide stating global statistics on blindness due to genetic eye conditions.

Our colleagues presented at the Festival of Genomics & Biodata!

Dr Alice Davidson shared her lab’s work on the genetics of inherited corneal disease to improve diagnosis & treatment.

Dr Nikolas Pontikos & Eye2Gene are using #AI to speed up inherited retinal disease detection. @ucleye.bsky.social