Скачать или смотреть Genetic Testing for Congenital Hyperinsulinism - Exeter Team's Breakthrough Research

Discover how the Exeter Hyperinsulinism Team is transforming lives through world-leading genetic testing and research into Congenital Hyperinsulinism (HI).

👩‍⚕️ Led by Principal Clinical Scientist Jane Houghton and Professor Sarah Flanagan, this presentation outlines how the multidisciplinary team in Exeter delivers rapid, accurate diagnoses for HI patients.

🔬 Learn:
How 26+ genes are screened for HI, including ABCC8, GLUD1, and HK1
Real patient cases showing how genetics guides treatment
How de novo variants in HK1 are now recognized as a leading cause of HI
The critical role of research in diagnosing "unsolved" genetic cases
Why parental samples are essential to understanding inheritance and recurrence risk

🌍 Since 2018, Exeter has provided equitable access to advanced genetic testing for over 4,500 individuals from 59 countries—and counting.

📣 Whether you're a clinician, researcher, or affected family, this talk underscores the power of precision medicine and the importance of never giving up on a diagnosis.

Downloadable handouts: https://hyperinsulinism.co.uk/news-ev...
Genetic Information: https://hyperinsulinism.co.uk/genetics/

The Children’s Hyperinsulinism Charity is the only dedicated UK & Ireland charity focused on Hyperinsulinism. Founded and run by parents, we support people of all ages and their families through advocacy, patient-led research, education, and practical resources, making a real difference to families across the UK and Ireland.
https://hyperinsulinism.co.uk/
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