Teaming up human genetics with state-of-the art technologies to beat diabetes

The theme for this year’s World Health Day is ‘Beat Diabetes’, so two researchers in the Anna Gloyn group, Katia Mattis and Fernando Abaitua – jointly based at the Wellcome Trust Centre For Human Genetics and the Oxford Centre for Diabetes, Endocrinology, and Metabolism – write about their research into diabetes.


This year’s World Health Day theme is ‘Beat Diabetes’. The campaign’s main goal is to raise awareness about the sustained increase of diabetes and its economic burden on society.

The International Diabetes Federation estimates that currently 415 million people worldwide have diabetes, which accounts for almost 9% of the population, and it predicts this number will double over the next 20 years. Diabetes consists of a group of metabolic diseases which develop when the body does not generate enough insulin, or is unable to use insulin. Consequently, blood glucose levels rise, which in turn can lead to damage of key organs in the body including the heart, kidneys, nerves and eyes. If diabetes is not well managed it can led to premature death. In fact, in the UK alone, poorly managed diabetes is responsible for more than 100 amputations a week and about 24,000 early deaths per year. In addition, the cost of treating diabetes and its complications amounts to greater than 10% of the NHS budget; every minute £25,000 are being spent on diabetes care.

The most prevalent form of diabetes is type 2 diabetes (T2D) which accounts for over 90% of all diabetes cases. It used to be known as adult-onset diabetes, but is worryingly increasing in adolescents and children. The precise causes for its development are not completely understood, but genetic and environmental factors play a major role in disease risk. In recent years, international consortia, led by principal investigators within our Centre, have conducted genome-wide association studies that have identified over 100 regions of the human genome, which influence an individual’s risk of developing T2D. One of the greatest challenges now is to understand how these genetic changes affect the insulin producing beta cells of the pancreas and cause their dysfunction. Since it is tricky to get hold of human pancreatic cells and even more difficult to manipulate them, novel cellular models are needed so that the impact of DNA sequence variants on beta-cell function can be investigated.

To tackle these challenges, our research teams are combining human induced pluripotent stem cells (iPSCs) and genome engineering. iPSCs are a type of cell that can be derived directly from any adult cell and have the potential to replicate indefinitely (“stemness”) as well as give rise to any other cell type in the human body (pluripotency). It is possible to use molecular scissors to cut their DNA and introduce specific DNA base changes that we are interested in, using a new gene-editing tool called CRISPR. We can use these two powerful technological developments to investigate the impact of T2D-risk variants on the ability of these cells to make and secrete the hormone insulin. The hope is that a better understanding of why these critical cells stop making insulin will help us to develop new treatments for patients with T2D.

On this year’s World Health Day, and beyond, our contribution will be to stay super and beat diabetes!

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