#HICONF3. Exeter team photo - say CHI!

RT @congenitalhi: 10 year national study on congenital hyperinsulinism (HI) in Ukraine utilizes genetic testing from CHI funded Open HI Gen…

RT @DrPamBowman1: A great example of targeted treatment at the earliest possible opportunity to improve neurodevelopment - with exciting im…

RT @DiabetesCareADA: Improved neurodevelopmental outcome after serendipitous exposure to glyburide in utero in a patient with KCNJ11 neonat…

RT @congenitalhi: There are many babies and children who have trouble obtaining genetic testing for congenital hyperinsulinism. Genetic tes…

What a fantastic few days. First the @congenitalhi @CHCharityUK conference where we learnt so much from the families living with #HI. Then #ESPE2024 where we met colleagues, planned new research and showcased the team’s work @JonnaMannisto @DrPamBowman1 @JJ_Hopkins_

Great way to start the ESPE meeting, thanks to @JonnaMannisto for signing us up! @DrPamBowman1

RT @EuroSPE: Congratulations to our runners who joined us for the 5k run run this morning! 👏 If you joined us, please remember to donate t…

@ExeterMed @RoyalDevonNHS @RDEResearch Congratulations Kash ⭐️

RT @ElkyD: Exciting GW4-DTP PhD project on MND epigenetics with me @PsyEpigenetics, @BhingeLab and Dr Owen Peters from Cardiff Uni https:/…

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 🧬 @JonnaMannisto @congenitalhi @ElkyD

RT @congenitalhi: ❓️ Did you know that CHI and The U of Exeter provide genetic testing for individuals with HI? 🧬 To date, we have enable…

RT @carolinefwright: Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in po…

Finding of novel variants allowed us to extend the size of the minimal region critical for maintaining silencing of HK1 in pancreatic beta-cells. Importantly these findings also signalled the end of the diagnostic odyssey for many families living with the condition (4/4)

RT @uniofexeHLS: Huge congratulations to Dr Elisa De Franco (@DrElisaDeFranco) who has been awarded the 59th EASD Minkowski Prize for her c…

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

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

RT @GenSocUK: Celebrate emerging talent! Nominate an exceptional young investigator for the Balfour Lecture Award and recognize their rem…