Congenital hyperinsulinism is the most common cause of persistent low blood sugar (hypoglycaemia) in early infancy, which can be dangerous if not diagnosed and treated promptly. By providing routine genetic testing, our laboratory aims to improve patient care by guiding treatment decisions and helping families understand why the condition has occurred.
Since receiving its first referral in 2001, the Exeter laboratory has provided genetic testing for more than 5,500 individuals living with congenital hyperinsulinism, representing over 100 countries worldwide. Through this work, the team has delivered an accurate genetic diagnosis for more than half of these individuals and their family members.
In 2018, the Exeter team partnered with Congenital Hyperinsulinism International to establish the Open Hyperinsulinism Genes Project. Thanks to the generous support of this charitable organization, the costs of genetic testing are now covered for individuals who might otherwise be unable to access screening. This partnership is helping to ensure that no one diagnosed with congenital hyperinsulinism faces barriers to genetic testing.
Click here to see a video about this exciting partnership.
Our research is focused on using state-of-the-art technology to discover the genes that cause congenital hyperinsulinism in the 50% of families who do not have a genetic diagnosis and studies to improve variant detection. Our research further aims to improve knowledge of phenotypic outcomes associated with specific genetic variants, including features of hyperinsulinism, syndromic disease and neurological outcomes.
By rapidly bringing our novel research findings into routine genetic testing and working with industrial partners, we aim to improve diagnosis and guide treatment, ensuring that all families can benefit from the latest scientific advances.
The Exeter team are fully committed to outreach and public patient involvement. We aim to put patients and families at the centre of everything we do, listening to their experiences, involving them in research planning, and ensuring that our work addresses their needs and priorities. This patient-centred approach guides not only our research but also the services and support we provide.
Hyperinsulinismgenes.org aims to provide information for patients and professionals on the underlying genetic mechanisms of congenital hyperinsulinism. This website is run by the Congenital Hyperinsulinism research team at the University of Exeter Medical School and the Genomics Laboratory at the Royal Devon University Hospital, Exeter, UK.
Commitment to Environmental Sustainability
The HIgenes team is committed to conducting our research as sustainably as possible. Our laboratories are enrolled in the LEAF initiative, a sustainability accreditation initiative for laboratory spaces. The RILD laboratory has held Gold accreditation – the highest possible award – since September 2023, and in November 2025 this accreditation was renewed for a further two years. This work has been led by Dr Jessica Hopkins from the HIgenes team.
We are also a member of Green DiSC; a certification scheme focused on sustainable computing in laboratories and have recently submitted our bronze application.
The team continue to adopt additional measures to ensure sustainability is embedded in our practices. These include emailing patient reports rather than sending them by post, and providing home collection kits that reduce the need for patients to travel to hospitals. These steps not only support environmental goals but also offer clear benefits for both patients and clinicians.
