Sarah Flanagan

#HICONF3. Exeter team photo - say CHI!

New Research: Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing frontiersin.org/articles/10.33… #FrontiersIn #Endocrinology

10 year national study on congenital hyperinsulinism (HI) in Ukraine utilizes genetic testing from CHI funded Open HI Genes Project to treat HI in 14 individuals. Full article "Congenital hyperinsulinism in the Ukraine: a 10-year national study" here: frontiersin.org/journals/endoc…

A great example of targeted treatment at the earliest possible opportunity to improve neurodevelopment - with exciting implications for the future @athattersley @flanagan_se @MaggieShepher13 @ExeterMed

Improved neurodevelopmental outcome after serendipitous exposure to glyburide in utero in a patient with KCNJ11 neonatal diabetes: potential for future prenatal treatment of intellectual disability. @ADA_Pubs Read Here➡️ diabetesjournals.org/care/lookup/do…

There are many babies and children who have trouble obtaining genetic testing for congenital hyperinsulinism. Genetic testing is necessary for patients to get the proper treatment for hyperinsulinism.

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

Congratulations to our runners who joined us for the 5k run run this morning! 👏 If you joined us, please remember to donate to the fundraiser for Save the Children: justgiving.com/page/european-…

Exciting GW4-DTP PhD project on MND epigenetics with me @PsyEpigenetics, @BhingeLab and Dr Owen Peters from Cardiff Uni exeter.ac.uk/study/funding/…

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 academic.oup.com/jcem/article/d…

❓️ 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…

Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts" in @NatureGenet - including top 10 tips for avoiding errors! Link to paper doi.org/10.1038/s41588… and full PDF rdcu.be/dPjsd

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

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 🧁

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…