Ylen murrevisan mukaan DNA:ssani on eniten eteläpohjalaisia murteita. Kokeile, mitä testi paljastaa sinusta. yle.fi/aihe/artikkeli… #yle #murretesti

Delighted with the collaboration with Dr Tom Hewat Sarah Flanagan in ’Increased referrals for #congenitalhyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non‐genetic risk factors in this group’!onlinelibrary.wiley.com/doi/abs/10.111…

Today is National DNA Day! Read about the genetics of HI, thanks to Dr. Sarah Flanagan at Royal Devon and Exeter Hospital who created this fantastic blog:  bit.ly/3Ox6JPs #hypoglycemia #congenitalhyperinsulinism #congenitalhi #hyperinsulinism

A team at the University of Exeter have discovered the cause of the rare condition Congenital Hyperinsulinism in a part of a genome that has been underresearched. Read: bit.ly/3DCXSar bit.ly/3UmviBn Orli Bahcall @ExeterDiabetes #ExeterDiabetes

Lovely to see Oona presenting her fantastic research providing data on natural history of childhood growth in #congenitalhyperinsulinism and several wonderful talks & posters on #hyperinsulinism @ #ESPE2023 The Hague

Tutkijat löysivät yllättävän geenin, joka vaikuttaa ihmisen haiman kehitykseen helsinki.fi/fi/uutiset/dia…

📢 Exciting News! Registration is now OPEN for the 9th Study Group of the Genetics of Diabetes (SGGD) meeting 🗓️ Join us from April 17-19, 2024, in the beautiful city of Exeter. Explore the program and secure your early bird rate here: tinyurl.com/7np6n5x7 #ExeterSGGD24

EISG Helsinki 2024 | University of Helsinki. Next instalment! Outstanding speakers and an exciting venue. helsinki.fi/en/conferences…

Harnessing CRISPR to correct a metabolic inherited disease, authors of the latest AJHG article developed a therapeutically relevant method to precisely edit the Finnish Founder pathogenic variant responsible for argininosuccinate lyase deficiency: cell.com/ajhg/fulltext/…

A novel mechanism for congenital hyperinsulinism. nature.com/articles/s4143…

Tom Laver is flying the flag for #congenitalhyperinsulinism #SGGDExeter2024. Great to see him showcase the team’s work on low level mosaic variants in CHI. A study made possible through generous UPenn Million Dollar Bike Ride by ODC grant funding CHI

Today is European Hormone Day. Hormones play a key role in health and disease. Prof Eleanor Davies from SCMH encourages you to read why hormones matter. #BecauseHormonesMatter #EuropeanHormoneDay UofG MVLS European Society of Endocrinology (ESE)

CHI partners with the genetic research team at the University of Exeter Medical School, helping fund genetic testing for individuals from around the world who could not otherwise afford the testing.

Getting the right diagnosis and treatment can help avoid brain damage and other severe complications. Read more about the genetics of HI here, thanks to Dr. Sarah Flanagan at Royal Devon and Exeter Hospital who created this fantastic blog: hyperinsulinismgenes.org/genetic-subtyp…

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 papers.ssrn.com/sol3/papers.cf…. A few spoilers in the thread below (1/4) SSRN @HIgenes

#childgrowthawareness Important day for an important topic. That’s why we also study the growth of individuals with #CongenitalHyperinsulinism

There's less than a month to go before applications close for the ESPE Research Fellowship! This grant enables talented early-career scientists, investigators, and #PaediatricEndocrinologists to conduct research at leading institutions worldwide. eurospe.org/event/apply-he…