Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in early infancy. By providing genetic testing for this condition our research aims to improve patient care and provide novel insights into mechanisms of insulin secretion.
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 over half of these individuals and their family members.
In 2018, the Exeter team partnered with Congenital Hyperinsulinism International. 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.
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.
