Pleased to be able to offer a summer placement at the Exeter Centre for Hyperinsulinism Genetics through this scheme. The Research Access Placements programme is open to undergraduates from underrepresented backgrounds
@gensocuk.bsky.social
Another huge team effort! We’ve detected disease-causing low-level mosaic variants in the blood of people with #congenitalhyperinsulinism, meaning that more patients who haven’t had surgery can now get a genetic diagnosis without pancreatic tissue testing.
A 94-bp Deletion in the Promoter of the Beta-Cell Disallowed gene SLC16A1 causing Adult-onset Hyperinsulinism www.medrxiv.org/content/10.6...
Our preprint is out :-)
A 94-bp Deletion in the Promoter of the Beta-Cell Disallowed gene SLC16A1 causing Adult-onset Hyperinsulinism https://www.medrxiv.org/content/10.64898/2025.12.16.25342131v1
What a great #ESPE #ESE meeting in Copenhagen. Pleased to have been given 2 opportunities to showcase the team’s work and also managed to squeeze in some sightseeing.
The highlight was though talking to some of the wonderful clinicians who have referred patients for #HI genetic testing in Exeter.
Great to see a parliamentary debate focussing on some of the many challenges faced by families living with #congenitalhyperinsulinism
Really pleased that the great work of the Exeter NHS Genomics lab and research team were also acknowledged 🧬
parliamentlive.tv/event/index/...
Characterization of Congenital Hyperinsulinism in Argentina: Clinical Features, Genetic Findings, and Treatment Outcomes https://www.medrxiv.org/content/10.1101/2025.03.14.25323434v1
Nature research paper: Rare disease gene association discovery in the 100,000 Genomes Project
https://go.nature.com/41jAqdQ
New Research: Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing
www.frontiersin.org/journals/end...?
