The Exeter Centre for Hyperinsulinism Genetics is internationally recognised for genetic discovery, diagnostics, and translational research in congenital hyperinsulinism.
Since 2001, our laboratory has provided genetic testing for more than 5,500 individuals living with congenital hyperinsulinism, from over 100 countries worldwide. Many of these individuals have enrolled in our research studies aiming to improve knowledge of this condition.
In 2018, we partnered with Congenital Hyperinsulinism International to establish the Open Hyperinsulinism Genes Project which supports the costs of genetic testing for individuals who would otherwise be unable to access screening. This partnership is ensuring that no one with congenital hyperinsulinism faces barriers to genetic testing. Click here to see a video about this exciting partnership.
Our patient-focused research uses state-of-the-art technology house in GOLD LEAF-accredited laboratories to discover the genes that cause congenital hyperinsulinism in the 50% of families without a genetic diagnosis, to improve variant detection and knowledge of clinical 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.
Hyperinsulinismgenes.org aims to provide information for patients and professionals on the underlying genetic mechanisms of congenital hyperinsulinism. This website is run by the Exeter Centre for Hyperinsulinism Genetics at the University of Exeter and the Genomics Laboratory at the Royal Devon University Hospital, Exeter, UK.
