Canberra Health Services is one of the few places in the world using personalised medicine to develop specific treatments for kidney and autoimmune disease. It was this unique approach that led to the discovery of a gene mutation that accelerates kidney disease in some people.

Canberra Health Services nephrologist and Australian National University researcher Dr Simon Jiang is part of a team of scientists who identified the mutation. Dr Jiang and his team were approached by a group of researchers from Queensland and the Northern Territory who have been trying to find out why Tiwi Islanders have the highest reported rate of kidney disease worldwide. They knew there was a strong genetic component to the high rates, but they didn’t know why.

When sequencing the genome of patients with autoimmune kidney disease and Indigenous Tiwi Islanders with extreme rates of kidney disease, Dr Jiang and his team identified a mutation in the gene VANGL1. Further testing also found that the gene helps prevent the immune system from attacking the kidney.

‘People with this mutation will be significantly more likely to develop kidney disease,’ says Dr Jiang.

‘The study has major implications for Indigenous people with kidney disease, such as the Tiwi Islanders, in whom the mutation occurs at much higher rates.’

Located 80km north of Darwin, the Tiwi Islands have the highest recorded rate of kidney disease in the world, four times more likely than mainland Indigenous Australians and 11 times more likely than that of non-Indigenous Australians.

‘About 15 per cent of the population has the gene mutation, but when it’s coupled with an inflammatory disease, it permits damage to the kidney.’

‘When you have a systemic immune or inflammatory disease, the mutation allows the immune system to attack the kidney. The gene’s natural function is to slow down the inflammatory process but for about 15 per cent of the population, a mutation in the gene can cause kidney disease,’ Dr Jiang says.

‘Previously we thought that immune diseases such as Lupus and Rheumatoid arthritis attack the kidneys by chance. What we’ve shown though, is that the kidney has its own way of resisting or stopping that attack.’

The discovery has helped medical practitioners better understand autoimmune diseases and how to personalise treatment for each patient.

‘The researchers from Queensland approached us and asked if we could use the same personalised medicine approach we use to help patients with kidney disease and adapt it to help determine what might be driving kidney disease in the Tiwi Islands. Through this, we were able to discover the VANGL1 gene mutation.’

‘The reason why each person develops kidney disease is different. In personalised medicine, what we try to do is understand for each person at the cellular level what has happened to their immune system and why they have developed that disease. After we first see our patients in the clinic, there’s years of laboratory work to discover and prove what their immune systems are doing before we can bring them back in for treatment,’ Dr Jiang says.

‘We use this work to try and develop treatments that are specific to each individual person, whether it’s coming up with new therapies or using existing therapies in new ways to get results.’

‘Being one of the only places in the world using this type of personalised medicine with our kidney patients, we have lots of scientists and clinicians approach us to try and adapt the work into different settings and diseases, not just for discovery but also to improve patient care.’

‘It’s a new way of doing medicine, where in the past if you go to your GP with a cough and a fever, they’d tell you that you have a chest infection and you would be treated the same regardless of your age, ethnicity or gender.’

‘What we now do differently is that we say, while there are similar aspects to diseases, each person has their own genetics, behavioural and environmental impacts that can come together to mean a disease occurs in a very specific way to each person. And if you can understand that person, you can understand why they’ve developed that disease and can treat it much better.’

‘We often get complex referrals for patients from Melbourne, Sydney and Queensland, so the more successes we have as a team, the more we’re able to prove that this method works, and we can help people who were previously unable to be treated.’

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