Australian Childhood Diabetes DNA Repository (ACDDR)

Diabetes is the name given to a group of different conditions in which there is too much glucose in the blood. Glucose is the body’s main source of energy. It is converted by insulin to a form that is stored in the liver until we need it. In people with diabetes, the pancreas does not produce enough insulin. In some cases no insulin is produced. Without insulin, the glucose remains in the blood and can damage organs.

There are two main types of diabetes: Type 1 and Type 2. In Type 1 diabetes (T1D), the pancreas cannot produce insulin because the cells that make the insulin have been destroyed by the body’s own immune system. The insulin must be replaced with multiple injections.

People with Type 2 diabetes are insulin resistant, meaning their pancreas can make insulin but the insulin is not working as well as it should. The level of glucose in the blood cannot remain at a safe level. In the past, Type 2 diabetes was commonly seen only in adults. However, due to a reduction in the amount of exercise and an increase in the consumption of energy-rich foods, children are now being diagnosed with this serious disease: child-onset Type 2 diabetes (cT2D).

The Australian Childhood Diabetes DNA Repository (ACDDR) is located within the Centre for Diabetes Research (CDR) at Harry Perkins Institute of Medical Research (HPIMR/Perkins). It is supervised by Professor Grant Morahan.

The repository aims to:

• Identify genes that predispose people to type 1 diabetes or to type 2 diabetes;
• Understand why some people develop diabetes; and
• Help researchers discover new treatments.

A repository is a bank for DNA. It contains small amounts of the DNA stored in a deep freeze for long periods of time. This DNA bank contains 6600 DNA samples from 2000 Australian families affected by either Type 1 or child-onset Type 2 diabetes. Each family in the repository consists of the biological mother and father as well as the child with diabetes. As with all medical research projects involving human samples, approval for collection of these samples was granted by an appropriate Human Research Ethics Committee (HREC). Outside researchers will require their own HREC approval to be able to access the DNA samples, as well as our approval, with which they can then research genetics links associated with diabetes.

At the Perkins, we are able to extract the DNA from saliva samples. These samples are collected in a special container with a preservative – so the samples do not have to be refrigerated. Once the DNA has been extracted, we produce more DNA using a process called Whole Genome Amplification (WGA). This was how we collected DNA for the ACDDR, and how we still collect DNA for our ongoing genetic projects. The extra DNA produced by WGA is then stored for researchers to use – with your consent.

While recruitment for the ACDDR is now closed and research work is underway on the samples collected, the CDR is currently involved with other studies that are still recruiting. For more information please visit our Perkins Centre for Diabetes Research lab page at https://perkins.org.au/research/labs/cmm-program/diabetes-overview/ or contact Research Assistant Bek Brittain at [email protected].