Diabetes Genes
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Prof Andrew Hattersley’s team brings together researchers working in molecular genetics, human physiology, biochemistry, clinical investigation, and patient care.

Their ground-breaking work in monogenic diabetes (diabetes caused by a change in a single gene) has received over 30 national and international prizes and more than £26M in funding since 2009.

History

Together with Prof Sian Ellard, Prof Hattersley founded a genetics laboratory at the Royal Devon University Healthcare NHS Foundation Trust in 1995 that combined research with NHS diagnostics. Prof Maggie Shepherd (Diabetes Specialist Nurse) led professional and patient education as they discovered, and learned how best to treat, new genetic subtypes of diabetes. Prof Tim Frayling was the team’s first PhD student in 1996 and is now a world leader in the study of genetic predisposition for diabetes and obesity. Together, they established a diagnostic service to provide genetic testing for patients, both in the UK and across the world.

Monogenic Diabetes

Monogenic diabetes results from an alteration in one of the three billion bases in a patient’s genetic code. Searching for these genetic changes is “like looking for one spelling mistake in a library full of books.” Yet Professor Hattersley and his colleagues in Exeter have identified the single altered base for 15 distinct genetic types of diabetes. Treatment decisions for monogenic diabetes are based on the individual gene, thus allowing for a precision medicine approach tailored to person.

Precision Medicine: A Success Story

One dramatic example is in neonatal diabetes (diabetes diagnosed in the first six months of life). Previously, these babies were diagnosed with Type 1 diabetes and expected to remain on insulin injections for their whole lives, often with poor outcomes. The team discovered that the majority of patients with neonatal diabetes had a genetic mutation which rendered the potassium channel of pancreatic beta cells unresponsive. Prof Hattersley’s theory that these patients could be treated with oral sulphonylurea therapy, which can close potassium channels was trialled and successful. In 2006, the first large group of patients with the mutation were able to transfer off insulin and onto tablets. The discovery fundamentally changed treatment and prognosis for children with neonatal diabetes worldwide.

Watch Prof Hattersley discuss his work

Watch Prof Ellard discuss her work

Watch Prof Frayling discuss his work

Watch Prof Shepherd discuss her work

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