News and Events

January 2018: Our new paper describing a MAFA mutation 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.

January 2018: 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.


November 2017: 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.

October 2017: 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.

October 2017: 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.

September 2017: The HI genes team, along with colleagues from the Diabetes and T2Diabetes genes teams, raised £87.62 to help support the work of a great charity aiming to improve the lives of children with genetic disorders.

August 2017: 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).


May 2017: 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.


Tom at the EASD-SGGD meeting in Leiden

March 2017: 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


February 2017: Congenital Hyperinsulinism International release a behind the scenes video showing the process of genetic testing for Hyperinsulinism in the Exeter Laboratory. Click here to view the short video.


Visit YouTube to see the ‘Behind the Scenes’ clip on HI genetic testing in Exeter

February 2017: Anna Bussell, an MSc Student at the University of Exeter, has joined the HIgenes research group. Welcome to the team Anna!


Anna Bussell joins the HIgenes team

November 2016: 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.


September 2016: 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.

September 2016: Sian attends the Congenital Hyperinsulinism International Family Conference in Paris where she explains about the crucial role of genetics in this condition.

August 2016: 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.


Hyperinsulinism training session for Exeter Molecular Genetics Team

June 2016: Sarah talks to the Genetic Diabetes Nurses at the Exeter study day on the role of HNF1A mutations in congenital hyperinsulinism.


Update on the role of HNF1A mutations in hyperinsulinism for genetics diabetes specialist nurses

April 2016: 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.

March 2016: Sarah explains her work on congenital hyperinsulinism to colleagues at the Living Systems Institute Research Symposium at the University of Exeter.


Sarah explains about the hyperinsulinism research that is being undertaken at the University of Exeter