University of Exeter Medical School, Exeter, UK
info@hyperinsulinismgenes.org
University of Exeter Medical School, Exeter, UK
info@hyperinsulinismgenes.orgThis project provides free routine genetic testing for individuals who cannot access diagnostics through their healthcare system or personal means. Funded by the charitable organisation Congenital Hyperinsulinism International, it has already supported more than 1,137 children from 65 countries worldwide. The outcomes of this partnership have been presented at multiple international meetings including the European Society of Pediatric Endocrinology (2021, 2023, 2025) and multiple CHI annual family conferences. The work has also been discussed on the Podcast, InSequence, hosted by Genuity Science.
If you are a clinician caring for a family with CHI who would benefit from this initiative, please get in touch.
By partnering with clinical and research teams around the world, we help analyse, interpret, and publish genetic data from diverse regional and national congenital hyperinsulinism (CHI) cohorts. Through these collaborations, we aim to strengthen local research capacity, highlight the genetic diversity of CHI across populations, and ensure that important findings are shared with the global community. If you are a researcher seeking support with analysing or publishing genetic data generated in our Laboratory, we welcome you to get in touch with our team
Our research is published in open access journals to ensure that our research is freely available to the global community. Manuscripts are also uploaded to preprint servers such as Medrxiv ahead of publication.
We host laboratory placements and visits to Exeter for scientists working on congenital hyperinsulinism, creating valuable opportunities to share expertise and foster international collaboration. Researchers from the USA, India, Finland, Spain, and France have participated, contributing to a vibrant exchange of knowledge and advancing our collective understanding of the condition.
Since 2021, we have been supporting the team at the Broad Institute who have been developing the Genetic Prevalence Estimator (GeniE). This tool uses gnomAD allele frequencies to estimate the genetic prevalence of autosomal recessive diseases. As hyperinsulinism disease and gene experts, we have provided input throughout the study by helping with gene selection, identifying sources of genetic variation and providing evidence of pathogenicity of variants identified in congenital hyperinsulinism genes.
The CRN is a patient-driven partnership, coordinated by Congenital Hyperinsulinism International. It brings together doctors, researchers, and patient advocates from around the world to advance research and improve care for people with hyperinsulinism.
The network meets regularly online and holds an annual in-person conference. Prof Sarah Flanagan, from the Exeter Centre for Hyperinsulinism Genetics, co-chairs the genetics workstream.
A collaboration between the University of Exeter, the Royal Devon University Healthcare NHS Foundation Trust, and Rezolute, a US-based, clinical-stage biopharmaceutical company, is driving the advancement of patient research and genetic testing for children born with congenital hyperinsulinism. With Phase 3 clinical trials in progress, this active partnership highlights the evolving cooperation between industry, academia, and the NHS to improve patient outcomes.
We are developing a range of family-friendly materials to explain all aspects of the genetics of hyperinsulinism in a clear and accessible way. This work is being created in close partnership with patient advocacy organisations to ensure it reflects the real experiences and needs of families.
The project is supported by a writer-in-residence at Royal Devon University Healthcare NHS Foundation Trust, funded by Royal Literary Fund, who provides feedback to help ensure the information is clear, engaging and accessible. Published information sheets can be found on our Resources for Families page.
