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hardcastlelab.bsky.social
@hardcastlelab.bsky.social
72 followers 81 following 26 posts
Professor of Molecular Genetics, Deputy Director, UCL Institute of Ophthalmology likes genomes and the natural world
Posts Replies Media Videos
Reposted
iobswiss.bsky.social
🧬 Major breakthrough: IOB researchers identify new genetic cause of inherited blindness in overlooked RNA genes. The discovery solves decades-old diagnostic mystery and opens new pathways for many patients worldwide.
➡️ www.nature.com/articles/s41...
#AcademicBlueSky #Genetics #VisionResearch #IRDs
January 9, 2026 at 10:05 AM
Reposted
stefanbarakat.bsky.social
New international collaborative work (incl us) just out in @natgenet.nature.com showing how dominant variants in RNU genes like RNU4-2 can also cause Retinitis Pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Susanne Roosing, @carlorivolta.bsky.social & many others

www.nature.com/articles/s41...
January 9, 2026 at 10:48 AM
Reposted
stefanbarakat.bsky.social
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
December 6, 2025 at 11:23 AM
hardcastlelab.bsky.social
Amazing science being presented @rd2025.bsky.social including from our team @ucleye.bsky.social 🧫🧬🧪🔬
September 17, 2025 at 1:06 PM
hardcastlelab.bsky.social
We’ll done Davide 👏 excellent talk @rd2025.bsky.social
September 17, 2025 at 1:01 PM
hardcastlelab.bsky.social
We’ll done Owen 👏 great talk at @rd2025.bsky.social in Prague
September 17, 2025 at 12:59 PM
Reposted
ucleye.bsky.social
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...
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.
www.ucl.ac.uk
September 16, 2025 at 3:53 PM
Reposted
ajhgnews.bsky.social
Explore the new resource!
IRD Gene Atlas
retigene.erdc.info
September 16, 2025 at 4:42 PM
Reposted
iobswiss.bsky.social
🧬 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
September 16, 2025 at 11:04 PM
Reposted
ucleye.bsky.social
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...
August 27, 2025 at 10:11 AM
Reposted
ucleye.bsky.social
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/...
https://ye.bsky.social‬
August 26, 2025 at 2:57 PM
Reposted
sten.linnarsson.org
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!)
ki.se Karolinska Institutet @ki.se · Jun 25
Applications are now open! We are recruiting 20 Assistant Professors in a wide range of subject areas. We're looking for early-career researchers with strong scientific merits and future potential.
🔗 All positions: ki.se/en/about-ki/...
June 25, 2025 at 10:08 AM
Reposted
adamrutherford.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).
www.thebookseller.com
August 14, 2025 at 10:04 PM
Reposted
wiringthebrain.bsky.social
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!
July 23, 2025 at 1:43 PM
Reposted
ucleye.bsky.social
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.
www.ucl.ac.uk
July 22, 2025 at 10:56 AM
Reposted
jandritu.bsky.social
👁‍🗨 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...
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 ...
www.radboudumc.nl
July 21, 2025 at 8:45 AM
Reposted
royalsociety.org
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...
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...
royalsociety.org
July 17, 2025 at 8:39 AM
hardcastlelab.bsky.social
Congratulations Freddie on your PhD defence 🎉🥳 huge thank to the examiners Chris Inglehearn and Dan Gore 🙏
July 11, 2025 at 11:18 AM
Reposted
cilialab.bsky.social
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
July 7, 2025 at 2:54 PM
Reposted
amandajcarr.bsky.social
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.
www.macularsociety.org
July 7, 2025 at 3:51 PM
Reposted
jandritu.bsky.social
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!
July 5, 2025 at 10:26 AM
Reposted
younglab.bsky.social
Check our latest paper... Variants in NR6A1 cause a novel oculo vertebral renal syndrome #RareDisease #Genetics #zebrafish #devbio
www.nature.com/articles/s41...
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...
www.nature.com
July 4, 2025 at 2:39 PM
Reposted
cheethamlab.bsky.social
Congratulations Owen and many thanks to Alex and Amanda.
July 5, 2025 at 9:56 AM
hardcastlelab.bsky.social
Congratulations Owen on your PhD defence 🥳🎉🥂huge thank you to examiners @jandritu.bsky.social and @amandajcarr.bsky.social
July 5, 2025 at 9:54 AM
Reposted
ucleye.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
June 18, 2025 at 3:19 PM