Sarah Flanagan
@flanagan_se
Professor of Genomic Medicine, Wellcome Senior Research Fellow @UniofExeter. Genetics of hyperinsulinism, monogenic diabetes & autoimmunity 🧬#ExeterDiabetes
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http://www.hyperinsulinismgenes.org 07-01-2014 22:20:11
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Had the honour of speaking at the Study Group on Genetics in Diabetes conference dinner this evening, for Andrew Hattersley Maggie Shepherd 💙 Richard Oram and other luminaries. They very kindly got me this snazzy cycling jersey
As #SGGDExeter2024 comes to an end, MassGeneral News rising star Miriam Udler closes the meeting by sharing her views on whether partitioned polygenic scores can illuminate the heterogeneity in type 2 diabetes, inform mechanism and potentially influence diagnosis and management.
Super excited to announce the publication of our research in Diabetologia ! Check out the impact of heterozygous RFX6 mutation in developing diabetes using isogenic SC-islets in vitro and in vivo. Grateful to all the co-authors and the reviewers❤️ link.springer.com/article/10.100…
🌟🎉 Today is Hyperinsulinism Awareness Day 🎉🌟 We are 👨👩👧👦 Bringing families together with our Fun Day 🌐 Launching our new-look website 💙 Celebrating our 1st ever HYPERINSULINISM AWARENESS DAY Join in by sharing your #Hyperinsulinism aims Hyperinsulinism UK #AimHIforHyperinsulinism
It’s #rarechromoday and Elisa De Franco and I are gladly supporting the great work of @unique_charity by eating cake 🧁
Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts" in Nature Genetics - including top 10 tips for avoiding errors! Link to paper doi.org/10.1038/s41588… and full PDF rdcu.be/dPjsd
Great to return from leave to find our paper reporting the use of genome and epigenetic analyses to resolve the pathogenicity of novel KDM6A duplications in #CongenitalHyperinsulinism is out 🧬 Jonna Männistö CHI Emma Dempster academic.oup.com/jcem/article/d…
Exciting GW4-DTP PhD project on MND epigenetics with me Jonathan Mill, Bhinge Lab🧠 and Dr Owen Peters from Cardiff Uni exeter.ac.uk/study/funding/…