Researchers based out of the University of Queensland have found a way to identify babies who will develop type 1 diabetes (T1D) in future.
The team, including JDRF-funded researcher Ahmed Mehdi, examined data collected over 10 years from children at risk of type 1 diabetes. Before getting T1D, genetically-susceptible individuals develop islet autoantibodies, often during the first few years of life. Almost everyone who develops multiple islet autoantibodies will progress to having T1D, however only a small proportion of those genetically at-risk develop autoantibodies.
There is currently no existing test to predict which genetically-susceptible children are likely to develop the multiple islet autoantibodies.
The researchers identified a seven-gene expression signature in babies under 12 months old, which when combined with a genetic risk score, identified those with a high-risk of developing T1D antibodies. This is one of the first studies to look at changes in gene expression over time, on a large scale.
Having a way to identify which at-risk individuals will progress to T1D and how quickly their beta cells will be destroyed is crucial to being able to monitor these people and provide support and education. These people might also make suitable candidates for future prevention trials if they wish to help researchers make further progress towards a world without T1D.
The discovery will lead to the development of better screening tests to identify children at highest risk within the general population. Currently, antibody screening tests are only used within research programs which screen children at high-risk.
Follow-up and early detection is also shown to prevent diabetic ketoacidosis at diagnosis.
“Most children diagnosed with type 1 diabetes do not have a family history, hence population screening could reduce life threatening complications before diagnosis,” Professor Ranjeny Thomas said.
“This signature can screen out infants who are at low risk of developing type 1 diabetes, so that monitoring can be focused on children with highest risk,” Professor Thomas said.
Lady Cilento Children’s Hospital paediatric endocrinologist Dr Mark Harris said monitoring an at-risk child reduced the likelihood they would present with diabetic ketoacidosis, a medical emergency. As it stands, as many as 40 percent of newly diagnosed kids are reaching diabetic ketoacidosis before their diagnosis is discovered.
“In children who are part of a monitoring program, the incidence of diabetic ketoacidosis is less than five per cent,” he said.
“Through population screening we’d be able to reduce that dramatically, while trialing preventive strategies.”
It can be traumatic for both a child and their family, when he or she becomes dangerously unwell with ketoacidosis. If this research can prevent people becoming very sick before diagnosis, families could avoid lengthy hospital stays and unnecessary extra stress and anxiety during a difficult time.
Even better, if this screening helps researchers to target prevention strategies, this could lead to us eventually stopping T1D in its tracks.