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.

In UK Biobank, individuals who had high polygenic score for educational attainment but performed poorly in fluid intelligence test and/or had poor education ('deviators') were more likely to carry neurodevelopmental disorder-related rare variants. Great demonstration of liability

'Chloe the Rabbit has Hyperinsulinism' is included in our school packs, so CHI Superheroes can use it to explain their condition to their classmates, friends, and family🤩 amazon.co.uk/Chloe-Rabbit-h… #WorldBookDay #HIFamilies4HIFamilies

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…

Hazem’s masterpiece, Congratulations!

🌟🎉 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

🌐🎉We are celebrating our first ever Hyperinsulinism Awareness Day with the launch of our new website! hyperinsulinism.co.uk 💙#HyperinsulinismAwarenessDay #AimHIforHyperinsulinism

Celebrate emerging talent! Nominate an exceptional young investigator for the Balfour Lecture Award and recognize their remarkable contributions to genetics (nominee has to have <10 years postdoc experience). genetics.org.uk/medals-and-pri…

It’s #rarechromoday and Elisa De Franco and I are gladly supporting the great work of @unique_charity by eating cake 🧁

Great fun had at the @higenes team away day this week. Sand, sea, sunshine and Spike Ball 🏖️

Huge congratulations to Dr Elisa De Franco (Elisa De Franco) who has been awarded the 59th EASD Minkowski Prize for her contribution to the understanding of genetic causes of #diabetes, particularly neonatal diabetes EASD #EASD2024 Full story: news.exeter.ac.uk/faculty-of-hea…

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

❓️ Did you know that CHI and The U of Exeter provide genetic testing for individuals with HI? 🧬 To date, we have enabled 921 children from 62 countries access to comprehensive testing for hyperinsulinism. 🔗 To learn more about this program, visit congenitalhi.org/open-hyperinsu…

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/…