Mike Cheetham
@cheethamlab.bsky.social
📤 82
📥 87
📝 14
Retinal cell biologist studying IRDs. Likes organoids, Alfa Romeo and Leeds United
Classic cars near the Rudolfinum Prague
#RD20205
@bwjones.bsky.social
3 months ago
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reposted by
Mike Cheetham
3 months ago
We’ll done Owen 👏 great talk at
@rd2025.bsky.social
in Prague
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reposted by
Mike Cheetham
3 months ago
Amazing science being presented
@rd2025.bsky.social
including from our team
@ucleye.bsky.social
🧫🧬🧪🔬
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Mike Cheetham
3 months ago
We’ll done Davide 👏 excellent talk
@rd2025.bsky.social
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Mike Cheetham
Adam Rutherford
4 months ago
An absolute scam. Does this serve science? No it does not.
www.thebookseller.com/news/springe...
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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).
https://www.thebookseller.com/news/springer-natures-revenue-increases-to-926m-as-adjusted-operating-profit-soars
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reposted by
Mike Cheetham
UCL Institute of Ophthalmology
5 months ago
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...
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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.
https://www.ucl.ac.uk/news/2025/jul/tribute-eye-treatment-pioneer-professor-pete-coffey
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reposted by
Mike Cheetham
5 months ago
Congratulations Freddie on your PhD defence 🎉🥳 huge thank to the examiners Chris Inglehearn and Dan Gore 🙏
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reposted by
Mike Cheetham
Amanda Carr
5 months ago
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/...
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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.
https://www.macularsociety.org/about/media/news/2025/july/tributes-paid-to-pioneering-eye-researcher-professor-pete-coffey/?dm_i=37VE,1KUAO,7GZ3ZZ,6DO92,1
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reposted by
Mike Cheetham
UCL Institute of Ophthalmology
9 months ago
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...
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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.
https://www.ucl.ac.uk/ioo/news/2025/mar/ioo-represented-launch-polands-new-teaming-project
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reposted by
Mike Cheetham
9 months ago
Now in print and open access. Thanks
@ajhgnews.bsky.social
for feature in Editors Corner 🧪🧫🧬
add a skeleton here at some point
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reposted by
Mike Cheetham
Julio Corral-Serrano
9 months ago
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
🧵
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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
https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddaf029/8048703?login=false
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reposted by
Mike Cheetham
Julio Corral-Serrano
9 months ago
🧪 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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Mike Cheetham
Elfride De Baere
9 months ago
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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reposted by
Mike Cheetham
And
@hardcastlelab.bsky.social
supported by
@moorfieldsbrc.bsky.social
@wellcometrust.bsky.social
and many others
add a skeleton here at some point
9 months ago
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And
@hardcastlelab.bsky.social
supported by
@moorfieldsbrc.bsky.social
@wellcometrust.bsky.social
and many others
add a skeleton here at some point
9 months ago
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Delighted to be part of this study led by Julio Corral-Serrano with
@elfridedebaere.bsky.social
and
@carlorivolta.bsky.social
add a skeleton here at some point
9 months ago
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academic.oup.com/hmg/advance-...
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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
https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddaf029/8048703
9 months ago
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reposted by
Mike Cheetham
9 months ago
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
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reposted by
Mike Cheetham
10 months ago
www.bbc.co.uk/news/article...
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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.
https://www.bbc.co.uk/news/articles/c5ydnz2d75xo.amp
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reposted by
Mike Cheetham
10 months ago
Amazing results of gene therapy in very young children from
@ucleye.bsky.social
👏👏
www.thelancet.com/journals/lan...
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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...
https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(24)02812-5/fulltext
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Thanks to
@moorfieldsbrc.bsky.social
Moorfields Eye Charity
@wellcometrust.bsky.social
@fightblindness.bsky.social
Fight for Sight amongst others for support.
add a skeleton here at some point
10 months ago
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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.
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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...
https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-025-01942-z
10 months ago
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Thanks to
@fightblindness.bsky.social
@wellcometrust.bsky.social
and
@moorfieldsbrc.bsky.social
for support amongst others and all the staff
@ucleye.bsky.social
add a skeleton here at some point
10 months ago
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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....
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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...
https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-025-01943-y
10 months ago
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reposted by
Mike Cheetham
10 months ago
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.soci
al
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reposted by
Mike Cheetham
Elfride De Baere
10 months ago
📣 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. 👏👏👏
add a skeleton here at some point
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reposted by
Mike Cheetham
The American Journal of Human Genetics
10 months ago
📣New from Gardner et al. 📄Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
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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...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00007-2
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Great story from
@hardcastlelab.bsky.social
lab with Jessica Gardner. Proud to have been able to help.
add a skeleton here at some point
10 months ago
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reposted by
Mike Cheetham
10 months ago
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
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Apologies for the photo - long way off but got a better look with binoculars. Possible as some trans located to where we were
www.birdguides.com/articles/orn...
add a skeleton here at some point
11 months ago
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@tmr65.bsky.social
what do you think?
add a skeleton here at some point
11 months ago
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reposted by
Mike Cheetham
11 months ago
Check out this v interesting preprint. RNU variants associated with RP. Components of spliceosome are fascinating
www.medrxiv.org/content/10.1...
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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recen...
https://www.medrxiv.org/content/10.1101/2025.01.06.24317169v1
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reposted by
Mike Cheetham
about 1 year ago
Christmas season cheer SPARCL1 gene 💍 implicated in corneal dystrophy in EJHG Dec issue
www.nature.com/articles/s41...
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Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant - European Journal of Human Genetics
European Journal of Human Genetics - Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant
https://www.nature.com/articles/s41431-024-01687-8
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reposted by
Mike Cheetham
MouseDoctor
about 1 year ago
pubmed.ncbi.nlm.nih.gov/39611149/
B cell Research Outputs. ProfB No. 5 in the World. Not Bad Considering Not a Single Penny of Grant Income.
#QMUL
in top ten with 3/Top 10 Scientists
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Global perspectives on the contribution of B cells to multiple sclerosis: an in-depth examination and evaluation - PubMed
This bibliometric analysis highlights pivotal research trends, key contributors, and emerging areas of interest in B cell research in MS from 2013 to 2024. The findings underscore the growing recognit...
https://pubmed.ncbi.nlm.nih.gov/39611149/
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reposted by
Mike Cheetham
John Crace
about 1 year ago
Hello everyone. I am now on this platform for social media. Do please repost this message so that more people can find me!
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