another great international collaboration with our friends in UK and Australia to which we could contribute, describing a very unique disease mechanism for a novel neurodegenerative disorder #genetics #raredisease @ajhgnews.bsky.social @jamesfasham.bsky.social @rdexeter.bsky.social

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

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

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

A new drug for a rare genetic disease that can lead to sudden loss of vision has been approved for NHS patients after a successful clinical trial co-led by Dr Patrick Yu-Wai-Man @ucleye.bsky.social & Moorfields Eye Hospital NHS. Supported by @moorfieldsbrc.bsky.social. www.ucl.ac.uk/news/2025/se...

Explore the new resource!

🧬 How can we navigate the genetic complexity of inherited retinal diseases? Our new paper in @ajhgnews.bsky.social presents RetiGene, a curated atlas of IRD genes, built with @erdc-team.bsky.social, to support diagnosis, research and therapy. 👉 bit.ly/467U1S9 #AcademicBlueSky #IRDs #VisionResearch

Congratulations to @ucleye.bsky.social's Professor @pearsekeane.bsky.social on receiving the @royalsociety.org's prestigious Gabor Medal for his contributions to advancing retinal image analysis through AI for the diagnosis of eye disease. www.ucl.ac.uk/brain-scienc...

We are seeking a Research Fellow / Senior Research Fellow to work with Professor Marinko Sarunic’s group at @ucleye.bsky.social and UCL Medical Physics & Biomedical Engineering. Closes 2 September. www.ucl.ac.uk/work-at-ucl/...

A major KI initiative to recruit new assistant professors with outstanding proposals in all areas of medicine, biomedicine and public health. We offer an amazing research environment, great colleagues and generous startup packages. Check it out and get working on your applications! (repost please!)

An absolute scam. Does this serve science? No it does not. www.thebookseller.com/news/springe...

Very pleased to say we have an Assistant Professor job opening (tenure track) in the Department of Genetics at Trinity College Dublin! 😀 www.jobs.ac.uk/job/DOA399/a... - deadline is August 19th! Please repost!

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...

👁‍🗨 We are seeking for a motivated and enthusiastic colleague to join our team. Do you want to know more? visit the link below ⬇️⬇️⬇️ www.radboudumc.nl/en/vacancies...

Our new Faraday Discovery Fellowships Accelerated International Route provides a fast-track option for international mid-career researchers looking to relocate to the UK, providing up to £4m over a five-year period. Find out more: #RSGrants royalsociety.org/grants/farad...

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

In both roles, new recruits will be part of an interdisciplinary team that uses state-of-the-art technologies to develop transformative therapeutic targets as part of the LifeArc Centre for Rare Respiratory Diseases. Please DM to discuss opportunities further. 🧪🧪 /fin

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/...

Congrats Owen! And of course also to you and @cheethamlab.bsky.social! He did great & we had very interesting discussions! Thanks for the invitation & thinking about me as the external expert. I really enjoyed it! It was lovely to catch up with you! Thanks a lot for the hospitality!

Check our latest paper... Variants in NR6A1 cause a novel oculo vertebral renal syndrome #RareDisease #Genetics #zebrafish #devbio www.nature.com/articles/s41...

Congratulations Owen and many thanks to Alex and Amanda.

Congratulations Owen on your PhD defence 🥳🎉🥂huge thank you to examiners @jandritu.bsky.social and @amandajcarr.bsky.social

Congratulations to @ucleye.bsky.social's Early Career Researcher (ECR) community for delivering another inspiring early career researchers' symposium last week, and to all recipients of the IoO ECR awards 2025. lnkd.in/gikiRGTF

A.I. is improving the accuracy of medical diagnoses. Today for inherited retinal diseases [IRD] (Eye2Gene vs retinal experts) nature.com/articles/s42...

Excited to be offering a new Macular Society funded UK PhD studentship at @ucleye.bsky.social with Giulia De Rossi. The project will investigate a new therapeutic target for fibrosis in age-related macular degeneration. Deadline for applications is 14th July. www.findaphd.com/phds/project...

1 in 2000 young adults in the UK are affected by inherited retinal diseases. Pioneering #GeneTherapy offers new hope. Read more here: moorfieldsbrc.nihr.ac.uk/wp-content/u... Prof. Alison Hardcastle & Prof. James Bainbridge @ucleye.bsky.social

Congratulations Mathieu! @mquinodoz.bsky.social @iobswiss.bsky.social @erdc-team.bsky.social

It's true! If your submitted manuscript reports findings presented in your ASHG talk, we will send it out for peer review.

🧬 HIghly recommended multidisciplinary, inspiring, cutting-edge top event of human genetics! 🧬 👇

🚨New paper alert🚨 After 40+ years of diagnostic uncertainty, we cracked the case! rdcu.be/eiLAg In an individual with Senior-Løken syndrome, traditional tests failed to identify a genetic cause. By combining #OGM and #LRS, we uncovered a hidden intronic mobile element insertion in IQCB1 (1/2).

the ERC has added a million euro for researchers moving to Europe.

A list of planned sessions with @ucleye.bsky.social's researchers at this year's @arvoinfo.bsky.social's conference in Salt Lake city is now available on our site. We look forward to seeing some of you there. www.ucl.ac.uk/ioo/news/202...

New hope for inherited vision loss IOB researchers (@karkam.bsky.social, @carlorivolta.bsky.social, @mquinodoz.bsky.social, @abimoye.bsky.social) identify AP5Z1, AP5M1, AP5B1 mutations, revealing new causes of macular dystrophy. 🔗 www.cell.com/ajhg/fulltex... #AcademicBlueSky #Ophthalmology

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

You can now view the recordings of @ucleye.bsky.social's inaugural lectures directly on our YouTube channel. Make sure to subscribe to stay up to date with new content. www.youtube.com/playlist?lis...

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

We are delighted to offer a 3-year PhD studentship at the UCL Ear Institute to study transcriptomic changes of auditory neurons in hearing loss. Funded by RNID; open to UK & international students. 🧪👂🧠 #neuroskyence Apply by 25th May 2025: www.findaphd.com/phds/project...

A landmark study, involving UCL researchers including Prof Henry Houlden & Dr Heba Morsy @uclqsion.bsky.social, has found 69 previously unidentified genetic determinants of rare disease, including uncommon forms of epilepsy and schizophrenia www.ucl.ac.uk/news/2025/fe...

This #RareDiseaseDay join our #Research Roadshow at Moorfields! Date: Fri 28 Feb 10:00 – 16:00, Opposite Costa - Moorfields Features Gene Therapies, stem cells and Optical coherence tomography (OCT) scans explained & more! 🔗 buff.ly/3D6aMBk @moorfieldsfriends.bsky.social @ucleye.bsky.social

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

We are seeking a Postdoctoral Fellow to join Ryan MacDonald's lab at @ucleye.bsky.social to lead a project investigating how genetic dysregulation in glial cells potentially drives neurodegeneration in retinal ageing. Position closes next week: 25 February: www.ucl.ac.uk/work-at-ucl/...

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

Reminder that we’re hiring! We're looking for a postdoc supverivsed by @tessamdekker.bsky.social to study how early vision loss & treatments shape brain development. Join our Wellcome-funded project using neuroimaging and behavioral methods! Deadline March 1st, start date flexible. t.ly/2Yoel

We’re hiring a new research fellow. Come join us in London to study glial cells in the ageing retina using killifish as a model. www.ucl.ac.uk/work-at-ucl/...

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

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