#HICONF3. Exeter team photo - say CHI!

RT @FrontEndocrinol: New Research: Large copy number variants are an important cause of congenital hyperinsulinism that should be screened….

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….

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).

We established that these variants cause hyperinsulinism of variable clinical severity and penetrance. Some individuals had diazoxide unresponsive disease diagnosed at birth whilst some family members with the variant remained asymptomatic in mid-late adulthood. (3/4).

Working in partnership with laboratories in Paris and Magdeburg we screened the HK1 cis-regulatory region in 1761 children living with HI of unknown genetic cause. We identified variants in 89 children and 63 family members. (2/4).

Our follow-up paper establishing non-coding cis-regulatory variants in HK1 cause #congenitalhyperinsulinism with variable disease severity is now available for download on Lancet preprints A few spoilers in the thread below (1/4) @SSRN @HIgenes.

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….