Researcher in focus: Professor Andrew Hattersley

Andrew Hattersley, Professor of Molecular Medicine at the University of Exeter Medical School and Consultant Physician at the Royal Devon and Exeter NHS Foundation Trust, has been awarded a CBE for his work in revolutionising the diagnosis and treatment of diabetes globally.

Throughout his career, Professor Hattersley has developed a profound understanding of the complexity of diabetes. With more than 500 peer-reviewed publications, chapters and books, he has been ranked one of the most cited diabetes researchers in Europe. His research has primarily focused on monogenic diabetes – a type of diabetes that is caused by a single genetic mutation. His pioneering studies have helped transform our understanding of this subtype of diabetes, its disease mechanisms and its complications.

Professor Hattersley said: “It is a tremendous honour and privilege to receive this award. I have been extremely lucky to work with exceptional colleagues in Exeter over the past 22 years. This award recognises their extraordinary efforts as much as my own. It has been very exciting to see the science of gene discovery have a direct impact on patient care.”

Professor Hattersley rapidly transformed Exeter from a centre without a genetics lab to being the premier international centre for monogenic diabetes. With funding from Diabetes UK, Professor Hattersley and Professor Sian Ellard established a molecular genetics laboratory at the Royal Devon and Exeter Hospital in 1995. Here, they integrated routine diagnostic testing with genetics research.

Professor Hattersley said: “This was a single lab with no barriers between research, making scientific discoveries and diagnostic testing for clinical care. This ensured that research findings moved rapidly into clinical care.”

Since then, Professor Hattersley’s team has grown into an internationally acclaimed research and diagnostic centre for monogenic forms of diabetes. He now leads a 29-person research team that integrates cutting-edge scientific research with an NHS diagnostic laboratory, and routine patient care in diabetes.

“It was a plan from the very start to choose to work differently from other genetics labs and diabetes research teams. We were young, small and flexible and could react rapidly to new results. This gave us an edge. We didn’t need to learn about old technology; we could jump right in and use the newest equipment.” Professor Andrew Hattersley

To date, Professor Hattersley and his team have identified 13 of the 24 known gene mutations that cause monogenic diabetes, and have provided genetic testing to more than 1,750 people from 87 countries. Their research into the genetic causes of diabetes has also led to the recognition of new subtypes of diabetes that have unique clinical features, with specific requirements for their treatment and clinical care.

Significantly, Professor Hattersley and his team discovered that a mutation in the Kir2.6 gene causes a rare form of diabetes in new-born babies known as neonatal diabetes. They also found that these babies could be treated more effectively with a simple tablet than with daily multiple insulin injections. This work led to the rewriting of international guidelines for all patients diagnosed with diabetes before 6 months to include immediate genetic diagnosis. His team now offer rapid, free, genetic testing for infants diagnosed in the first six months of life. As a result, more than 1,200 patients from over 80 countries have now been spared a lifetime of injecting themselves with insulin up to five times a day.

For Professor Hattersley, gene discovery is only the beginning, not the end. His vision is that gene testing will go hand in hand with the best clinical management and treatment: “It is in the interaction between genetic testing and clinical care where we really hope to make a difference. A lot of labs discover genes; we strive to discover the cause and find the optimal treatment.”

Find out more about Professor Hattersley’s work and recent EASD-Novo Nordisk Foundation prize in the video below: