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Hyperinsulinism Genes Exeter

Providing information for patients and professionals on the underlying genetic mechanisms of congenital hyperinsulinism.

Welcome

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.

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What is Congenital Hyperinsulinism?

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Genetic Subtypes

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Genetic Testing

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Testimonials

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

Hyperinsulinism Genes
2020-06-17T08:40:26+00:00

Clinician, Guatemala

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.
Thank you so much for the genetics and all the help. Thank you so much.

Clinician, India

Hyperinsulinism Genes
2020-06-15T15:04:04+00:00

Clinician, India

Thank you so much for the genetics and all the help. Thank you so much.
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

Hyperinsulinism Genes
2020-06-15T15:03:54+00:00

Clinician, United Arab Emirates

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
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

Hyperinsulinism Genes
2020-06-17T08:39:41+00:00

Clinician, Spain

Congratulations for the great work you have done to diagnose these families. All of us (families and doctors) are very grateful for it.
We would like to express our heart-felt thanks to you for doing mutation studies for our patients under your research project.

Clinician, India

Hyperinsulinism Genes
2020-06-17T08:39:11+00:00

Clinician, India

We would like to express our heart-felt thanks to you for doing mutation studies for our patients under your research project.
Thank you so much for your great support and for sending us the results of our patients.

Clinician, Vietnam

Hyperinsulinism Genes
2020-06-17T08:40:01+00:00

Clinician, Vietnam

Thank you so much for your great support and for sending us the results of our patients.
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Hyperinsulinism Genes

Tom chairs session of major international genetics conference

29 October 2020

Tom Laver organised and chaired an invited session on penetrance of monogenic disease at the ASHG international genetics conference to a live audience of over 500 people.

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