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

Treatment for cause of sight loss approved following UCL research A novel treatment for Leber’s Hereditary Optic Neuropathy (LHON), a rare genetic disease that can lead to sudden loss of vision, has been approved for NHS patients following a successful clinical trial co-led by UCL and Moorfields researcher.

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!)

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...

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!

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...

Vacancy - PhD position on Advancing Personalized iPSC-Based Models for Inherited Retinal Diseases The eye is the window to the world around us. Losing vision either early or late in life is a significant burden for patients. Nowadays, molecular ...

👁‍🗨 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...

Faraday Discovery Fellowships Accelerated International Route | Royal Society The Faraday Discovery Fellowships Accelerated International Route provides a fast-track option for attracting mid-career researchers looking to relocate to the UK from overseas, providing up to £4m ov...

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

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/...

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!

Variants in NR6A1 cause a novel oculo vertebral renal syndrome - Nature Communications Colobomatous microphthalmia often lacks a genetic diagnosis despite its developmental complexity. Here, the authors show that rare variants in NR6A1 cause a syndromic form with eye, kidney, and verteb...

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...

Understanding and targeting fibrosis in neovascular Age-related Macular Degeneration (AMD) at University College London on FindAPhD.com PhD Project - Understanding and targeting fibrosis in neovascular Age-related Macular Degeneration (AMD) at University College London, listed on FindAPhD.com

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...

Congratulations 🎉 and thank you for this important work

Alt text: "Banner for the NIHR Moorfields Biomedical Research Centre featuring the title 'Case study: Genomic Discovery and Therapeutics' and the main text 'Pioneering gene therapies to treat young people with inherited retinal diseases.' Includes a logo in the top left and a DNA strand icon with a green dot on the left side

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! 🧬

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