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🧬 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

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141: RetiGene, a comprehensive gene atlas for inherited retinal diseases

A podcast about RetiGene is now available on Spotify! open.spotify.com/episode/6WVx...
@iobswiss.bsky.social @erdc-team.bsky.social #IRDs #VisionResearch

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141: RetiGene, a comprehensive gene atlas for inherited retinal diseases

A podcast about RetiGene is now available on Spotify! open.spotify.com/episode/6WVx...
@iobswiss.bsky.social @erdc-team.bsky.social #IRDs #VisionResearch

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No momentum lost as we dazzled with the ciliary necklace, CEP290 and transition zone integrity in #photoreceptors, inner scaffold maintenance & membrane attachment key for gating with the amazing @abimoye.bsky.social (Wensel group and current @carlorivolta.bsky.social ). #IRDs #UKCilia2025 /4

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#Cilia and #Centrosome friends- tomorrow is the big day!! 🎉 🎉

Organoids for #PCD, #CryoET of the base of motile cilia, TZ organization in #IRDs, macrophages & cystic niches in #PKD, how pro-inflammatory lipids & #adipogenesis AND cilia as signal-sending organelles shedding #EVs! 🤩 😍 Join us!!

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🧬 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

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Our 52nd BSCB GenSoc UK Cilia and Centrosome e-symposium kicks off with a spectacular #super-resolution showcase on how RPGR variants affect #multiciliogenesis & cilia motility to cause #PCD or #IRDs via #actin dynamics! Zhen Liu wows- ICYMI: www.biorxiv.org/content/10.1... #UKCilia2025 /1

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A collage of six images: five young adults from the youth panel sitting on stage with the USH2025 screen behind them; the Congrestival programme resting on someone’s lap; Carol and Deborah, founders of Usher Syndrome Ireland, standing side by side in front of a stage; a photo from the Can I Catch Your Eye exhibition; Prof Ronald Pennings, Dr Erwin van Wijk, and Carol Brill in front of a research poster; and a graph showing the number of Usher syndrome research publications from 1936 to 2021, with a sharp increase in recent years. Centre caption reads: “USH2025 – What We Learned.”

A collage of six images: five young adults from the youth panel sitting on stage with the USH2025 screen behind them; the Congrestival programme resting on someone’s lap; Carol and Deborah, founders of Usher Syndrome Ireland, standing side by side in front of a stage; a photo from the Can I Catch Your Eye exhibition; Prof Ronald Pennings, Dr Erwin van Wijk, and Carol Brill in front of a research poster; and a graph showing the number of Usher syndrome research publications from 1936 to 2021, with a sharp increase in recent years. Centre caption reads: “USH2025 – What We Learned.”

Our recap of #USH2025 - International Symposium on Usher Syndrome is now live, highlighting the exciting research & innovative work currently underway to find treatments for this rare disease: usherireland.org/ush2025

#UsherSyndrome #Genetics #IRD #Research #IRDs #HearingLoss #RP

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Our own @profmariya.bsky.social educating us on the benefits of genetic testing and the therapeutic and family planning options available for #IRDs.

#medicaleducation #UsherSyndrome

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Projet Inde | Terre des Hommes France Renforcer les droits des travailleurs et promouvoir une justice socio-environnementale durable avec la jeunesse dalit dans le Tamil Nadu, en Inde.

Pour en savoir plus sur le nouveau projet en #Inde avec l' #IRDS : www.terredeshommes.fr/inde2027 #terredeshommes #TDHF #dalits

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Quoi de neuf en Inde en 2025 ? TDHF maintient son soutien auprès de l'IRDS pour ses actions en cours et le futur projet autour de l'aquaponie et du développement durable au sein des communautés dalits.

Découvrez les actions en cours et à venir dans l'article rédigé par Léna, notre chargée de projet pour l'Inde : www.terredeshommes.fr/post/quoi-de... #inde #tamilnadu #IRDS #TDHF #terredeshommes

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Même si le programme 2022/24 a pris fin, nous continuons à accompagner l' #IRDS depuis le début de l'année, et un nouveau projet émerge pr former 400 jeunes à l’ #agroécologie, aux pratiques médicinales traditionnelles, à l’ #aquaponie, au #droitdutravail & à la gestion des #ressourcesnaturelles

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RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs) Inherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic ...

Our new manuscript has just been posted as a preprint on bioRxiv. You can read the full story here www.biorxiv.org/content/10.1...

#retigene #IRDs #bioRxiv #Preprint #ResearchLife #ScienceInProgress #OpenScience

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Retina International welcomes this step forward for our community. We thank @rarediseasesint.bsky.social for its leadership in bringing together patient reps from around the world and for ensuring that our voices are heard loud and clear at the global level. #Resolution4Rare #RareEyeDiseases #IRDs

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Choroideremia Research Goes Global | ARVO 2025 Recap

#ARVO2025 #VisionResearch #IRDs #Choroideremia

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Feed me! Feed me, NOW!
#irds #ukbirds #moorhen #chick #feed #nature #water #edinburgh

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Today is #RareDiseaseDay.

Inherited Retinal Diseases are a group of rare genetic disorders where one or more genes aren't working properly, leading to visual impairments.

There are more than 20 types of #IRDs, affecting over 20,000 Canadians.

@uhntoronto.bsky.social @uhnresearch.bsky.social

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Inpp5e Is Critical for Photoreceptor Outer Segment Maintenance In humans, inositol polyphosphate-5-phosphatase e (INPP5E) mutations cause retinal degeneration as part of Joubert and MORM syndromes and can also cause non-syndromic blindness. In mice, mutations cau...

Just landed in @jcellsci.bsky.social from Ashavsky and Pazour groups- Inpp5e Is Critical for Photoreceptor Outer Segment Maintenance journals.biologists.com/jcs/article-... #IRDs #actin #MembraneTrafficking #cilia #ciliopathies

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US Air Force F-22 Raptor fighters to feature new infrared sensors - Air Data News Lockheed Martin has confirmed that it has received a $270 million contract from the US Air Force (USAF) to deploy an infrared defensive sensor system on the

US Air Force F-22 Raptor fighters to feature new infrared sensors. #F22Raptor #IRDS #LockheedMartin #USAF www.airdatanews.com/us-air-force...

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Acknowledgement slide of Olivier Mercey's lab, collaborators and funders showing ultra expansion microscopy images of mouse photoreceptor connecting cilia.

Acknowledgement slide of Olivier Mercey's lab, collaborators and funders showing ultra expansion microscopy images of mouse photoreceptor connecting cilia.

Our 50th @bscb-official.bsky.social @gensocuk.bsky.social @ukcilianetwork.bsky.social e-symposium kicked off with #UExM masterclass! Mysteries & hierarchies of #tubulin #PTMs in #ConnectingCilium #Bulge #IRDs- Olivier Mercey @centriolelab.bsky.social www.embopress.org/doi/full/10.... #ukcilia2025 /1

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Male Cardinal puffed up against the cold. #irds. #wildlife. #photography

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