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 for this condition, 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 Genomics Laboratory has provided genetic testing for more than 5,500 individuals living with congenital hyperinsulinism, representing over 100 countries worldwide. Through this work, the laboratory 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 discovering the genes that cause congenital hyperinsulinism in the 50% of families who do not have a genetic diagnosis By rapidly bringing our novel research findings into routine genetic testing, 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 Hyperinsulinism Research department and the Centre for Molecular Genetics at the University of Exeter Medical School and Royal Devon and Exeter Hospital, Exeter, UK.
