Congenital hyperinsulinaemic hypoglycaemia is the most common cause of hyperinsulinism in early infancy. By providing genetic testing our research aims to improve care for individuals with this condition and to 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 2850 individuals diagnosed with congenital hyperinsulinism from 78 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.
‘Thanks again for you Sarah and for all your team at Exeter Lab who gave us a great support and help to diagnose our patient’ – Clinician, United Arab Emirates
‘Thank you so much for the genetics and all the help. Thank you so much’ – Clinician, India
‘We would like to express our heart-felt thanks to you for doing mutation studies for our patients under your research project’ – Clinician, India
‘Congratulations for the great work you have done to diagnose these families. All of us (families and doctors) are very grateful for it’ – Clinician, Spain
‘Thank you so much for your great support and for sending us the results of our patients’ – Clinician, Vietnam
‘I want to thank your valuable help, for conducting the test for our patient. Thanks to your support to let us have a better approach of the case, now we have the diagnosis’ – Clinician, Guatemala