Exeter Rare Disease
rdexeter.bsky.social
Prof Emma Baple and team at @exeter.ac.uk defining the genomic and molecular basis of rare diseases https://wohproject.com/
👤 Joined on 20 January 2025
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- 20 Oca 2025, 11:12
🎉 Bluesky'e katıldı - İlk kullanıcı adı:
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Some exciting openings in Exeter for clinical academics (professor and senior lecturer). Come and shape the future of translational genomic medical research in the South West! Lovely place to work, lovely people to work with, and freedom to pursue great science... www.linkedin.com/jobs/view/43...
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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
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📣New from @rdexeter.bsky.social 📄Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
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www.nature.com/articles/s41... 🔥🔥🔥 Is genomics value for money??? 🧬💰 👉 How do we define it? 👉 Measure it? 👉 And deliver it? rdcu.be/eR243 @iliasgoranitis.bsky.social @stephaniebest.bsky.social @hadleyssmith.bsky.social @rich-genomics.bsky.social @jbuchanan-ox.bsky.social @rdexeter.bsky.social
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Honoured to be included in this little gang! 🧬❤️ 🙏 Looking forward to you joining us next year at #ESHG2026!
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