Congenital hyperinsulinaemic hypoglycaemia is the most common cause of hyperinsulinism 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 the first referral in 2003 the molecular genetics laboratory in Exeter has provided testing for over 3500 individuals diagnosed with congenital hyperinsulinism from 85 different countries around the world. This work has provided an accurate genetic diagnosis for over 45% of these individuals and their family members. In 2018 the team in Exeter joined forces with Congenital Hyperinsulinism International. Generous funds from this charitable organisation will cover the costs of genetic testing for individuals who would otherwise be unable to receive genetic screening. This new partnership is helping to ensure that there are no barriers for individuals diagnosed with this condition.
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.