Functional Genomics of Type I Diabetes Complications

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Type 1 diabetes has an enormous impact on the quality of life for the ~140, 000 people in Australia with this disease. In Australia type 1 diabetes is increasing at the rate of ~3% per year, a trend also seen worldwide. There is no cure for type 1 diabetes.

The incidence of type 1 diabetes is highest in children and adolescents being one of most common chronic diseases in children. Australia is in the top-ten countries worldwide for incidence of type 1 diabetes in children under 15 and some studies have suggested Australia has one of the highest incidence rates worldwide.

Many people with type 1 diabetes will also develop complications. Some people with long term type 1 diabetes may experience hypoglycaemia unawareness, a serious complication where the sufferer is no longer able to recognise the signs, and therefore treat themselves, when their blood glucose level falls dangerously low. This can result in collapse, unconsciousness and possibly coma or death. Many people with T1D will suffer from kidney disease, some requiring dialysis or a kidney transplant. Unfortunately we still do not have a clear understanding of why some people with diabetes get hypoglycaemia unawareness or kidney disease.

At Garvan, Associate Professor Shane T. Grey and his team are very interested in knowing more about the genes that contribute to type 1 diabetes at the functional level. This study will analyse the genes of people who have type 1 diabetes and also a diabetic complication including kidney failure and/or hypoglycaemia unawareness.

The approach is that by identifying, not only the genes, but how their function may be changed or different in people with type 1 diabetes, will lead to major breakthroughs in understanding diabetes, and result in the discovery of new prognostic markers and drug targets to treat type 1 diabetes.

World-First Whole Genome Sequencing of Type 1 Diabetes

The Garvan Institute recently became one of the first in the world to acquire technology that can sequence a whole human genome at a base cost of around AUD$1,500. This provides A/Prof Grey’s team with the opportunity to fill a significant scientific gap – to be the first in the world to use this technology to look at key genes and mutations in Australians living with type 1 diabetes and diabetic complications, in particular, those with hypoglycaemic unawareness and/or kidney failure.

To achieve this aim of functionally annotating the gene changes in type 1 diabetes, A/Prof Grey has assembled an outstanding team of senior researchers from within the Garvan Institute of Medical Research and nationally, including clinical leaders from Westmead Hospital’s Millennium Institute, The Children's Hospital at Westmead,  The Royal Adelaide Hospital, and experts from the Charles Perkins Centre, University of Sydney, the Australian National University (ANU), as well as international leaders from New Zealand, USA and Canada.

Using these very new genome technologies and cutting edge scientific methods, the team is embarking on a new program with the aim of functionally annotating the gene changes in type 1 diabetes that lead to complications.