Our review article written by Dr Pamela Bowman, Dr Jonna Mannisto and Dr Sarah Flanagan is out which describes how studying neurodevelopmental outcomes in people with congenital hyperinsulinism could inform more generally on the effects of hypoglycaemia on neurodevelopment in early life. The paper has been published in Nature Reviews Endocrinology and can be viewed here.

Congratulations to Michaelis Vasiliadis for winning the Poster Prize (a brand-new lab coat!) at the 9th Annual Mutational Scanning Symposium in Melbourne! 🎉

Michaelis presented some of his work aimed at improving our understanding of the disease mechanism behind the 94bp deletion in the SLC16A1 promoter recently identified as a cause of congenital hyperinsulinism. We done Michaelis!  Our preprint describing the discovery of this variant is on MedRxiv: https://www.medrxiv.org/content/10.64898/2025.12.16.25342131v1

The Exeter Centre for Hyperinsulinism Genetics are offering an undergraduate student the opportunity to join our team for a paid 8 week summer placement through the Genetics Society/BBRSC Research Access Placement Scheme. Undergraduates who meet the following criteria are able to apply: Any undergraduate student from an underrepresented background. This includes, but is not limited to, being a member of a minoritised group, being in receipt of the full amount of student loan, having a declared disability, having refugee status, or having caring responsibilities. Applications should be submitted directly to the Genetics Society.

Deadline: 31st March 2026

Our new preprint describing a 94 bp deletion in the SLC16A1 gene as a recurrent cause of adult-onset hyperinsulinism has been published. This research study started with a family-led question and has led to changes in the way we think about adult-onset hyperinsulinism.

Congratulations to Isabella Lazaridi a PTY student in the Exeter Centre for Hyperinsulinism Genetics who won not just one award but three! The Society for Endocrinology PTY Project Prize- BSc Medical Sciences, the Medical Science Year Prize and a Deans commendation. Congratulations Issy!

The HIgenes team are continuing with their outreach efforts. Tom talks to students at Queen Elizabeth’s School about  “When genes go wrong: genetic testing in diabetes and hyperinsulinism”. During his talk he highlighted many of the benefits of pursuing a career in science.

Sarah attends the Congenital Hyperinsulinism International Family Conference in Vienna. A wonderful opportunity to learn from families affected by this condition and to learn about the impact of our research.

We are in Prague attending the 7th Meeting of the EASD Study Group on the Genetics of Diabetes. Great talks from the HIgenes team including an overview of hyperinsulinism in Kabuki syndrome from Jayne Houghton followed by a presentation from Tom Laver on the contribution of large CNVs in hypoglycaemia.

Sarah shares the latest exciting research findings from the HIgenes team with other Sir Henry Dale Fellows at the Wellcome Trust.

The HIgenes team attended the Paediatric Endocrinology Symposium on Hypoglycaemia. It was great to give a lecture detailing the role of genetics in Hyperinsulinism.

It is outreach month for the HI genes team. Sarah and Tom have been busy passing on their enthusiasm for science to students at Exeter School and Queen Elizabeth’s School in Crediton, UK.

Tom presents his work on Chromosome 20 deletions in hyperinsulinism at the American Society of Human Genetics conference in San Diego, USA. Congratulations Tom on receiving a ‘Reviewer’s Choice’ Award.

It’s that time of year again to raise some money for an extremely worthwhile cause #JeansforGenes.

The HI genes team are extremely pleased to announce that they have teamed up with the Charitable Organisation, Congenital Hyperinsulinism International. The Exeter team have received generous funds donated by CHI which will allow them to provide genetic testing to all families regardless of their geographical and socio-economic status. This is a huge leap forward for the Congenital Hyperinsulinism community and we are very much looking forward to working with the CHI team on this amazing project. Further details regarding this exciting new partnership can be found here.

Sian attends the Congenital Hyperinsulinism International Family Conference in Athens. A great opportunity to highlight the importance of genetics in the condition and to learn from families.

Sarah attended the Children’s Hyerinsulinism Charity, Bringing Families Together Conference. It was a great opportunity for talk to the families about the underlying genetic causes of the disorder and to learn from their experiences

HUGE CONGRATULATIONS to Sian who has been awarded an OBE in the Queen’s birthday honours list. The team had great fun helping Sian celebrate in sunny Exeter.

Jayne Houghton provides a great training session to the diagnostic team at the RD&E Hospital on occurrence of hyperinsulinism in Kabuki syndrome.

Tom Laver helps to bring science to the masses at the University of Exeter ‘Pint of Science’ event. Standing room only for his talk on ‘When genes go wrong, learning from rare disease’.

Sarah Flanagan has been selected to receive the G.B. Morgagni Young Investigator Award, a prize which celebrates exceptional research in the field of metabolic diseases. The prize is named after Giovanni Battista Morgagni who was one of the first scientists to carry out research on human anatomy and is awarded once every two years to outstanding young research talent making a significant contribution to the field of diabetes research. Sarah will be presented with the prize at a ceremony in Venice on 19^th October, where she will also be presenting a lecture. Read more about this story here.

Woolly hats off to our great team who braved the snow to keep the Exeter laboratory open. Here is their innovative attempt to create more staff!

The Exeter Monogenic Diabetes Training course was a great success. Over 100 delegates from 12 different countries attended the two day symposium where they learnt how to better diagnose and manage this condition. The role of HNF4A in congenital hyperinsulinism was discussed by Kevin Colclough and Maggie Shepherd during their presentations.

Our new paper describing a pathogenic variant in the MAFA gene in families with insulinomatosis and diabetes is receiving some good media attention. This important finding provides insights into the role of MAFA in the pancreatic beta cell. The early edition of the paper is freely available for download on the PNAS website.

The HI Genes team kick off the new year by attending the University of Exeter’s Institute of Biomedical Sciences retreat held at the beautiful Dartington Hall. Sarah gave an overview of the team’s work and Tom presented a poster on the role of UCP2 in hyperinsulinism. The event provided a fantastic opportunity to form networks and new collaborations with others working in the field of molecular biology.

We are supporting World Diabetes Day. Diabetes affects the lives of many individuals diagnosed with congenital hyperinsulinism. Up to 53% of individuals develop hyperglycaemia following near-total pancreatectomy and for some, this will progress to insulin-treated diabetes. Individuals with dominantly inherited K-ATP channel mutations and hyperinsulinism due to a HNF4A mutation are also at increased risk of developing diabetes in early adulthood.

The HIgenes team and it’s honorary members put on their running shoes to raise money for the Children’s Hyperinsulinism charity. We had over 25 runners from Exeter who ran either 5K, 10K or 21K. Thanks to everyone involved.

Sarah attends the Endocrine First Global summit in Athens, Greece. This was a great opportunity to meet with collaborators and many of the lovely clinicians who refer patients to Exeter for genetic testing.

There is still plenty of time to sign up for Halloween HI-ke. A virtual 5K, 10K or half-marathon race. All proceeds go to the Hyperinsulinism Charity. It’s a fantastic cause so please help to support this if you can (See here for further details).

Tom represents the HIgenes team at the EASD-Study Group on Genetics of Diabetes conference in Leiden. During the meeting, Tom presented his work on investigating the role of variants in UCP2 in individuals with congenital hyperinsulinism.

Ten months since its launch and we have received our 1000th visitor to the HIgenes website. We are always trying to improve the content of website so if you have any suggestions or comments please email them directly to S.Flanagan@exeter.ac.uk.

Anna Bussell, an MSc Student at the University of Exeter, has joined the HIgenes research group. Welcome to the team Anna!

To mark World Diabetes Day Sian describes the teams work researching the genetic causes of neonatal diabetes and hyperinsulinism for the University of Exeter Medical School Facebook page. To see the video click here.

The HIgenes team had the pleasure of welcoming Julie Raskin, Davelyn Hood and Janna Pelle from Congenital Hyperinsulinism International to Exeter. After a tour of the laboratory and discussions around the research taking place in Exeter the team learnt about the great work being undertaken by CHI.

Sian attends the Congenital Hyperinsulinism International Family Conference in Paris where she explains about the crucial role of genetics in this condition.

Sarah talks to the Exeter Molecular Genetics Diagnostic team (those that do all of the hard work!) about the importance of genetic testing in individuals with congenital hyperinsulinism.

Sarah talks to the Genetic Diabetes Nurses at the Exeter study day on the role of HNF1A mutations in congenital hyperinsulinism.

Sian and Sarah attend the 2016 ‘Congenital Hypoglycaemia Disorders: Hyperinsulinism and GSD’ professional conference hosted by the Children’s Hospital of Philadelphia and the Congenital Hyperinsulinism International (CHI) family day conference.

Sarah explains her work on congenital hyperinsulinism to colleagues at the Living Systems Institute Research Symposium at the University of Exeter.