• To collect saliva DNA samples from 500 Indigenous RHD patients and 1000 matched controls – participants of a similar age – for genotyping to better understand the pathogenesis (development patterns) of Rheumatic Heart Disease (RHD), which could lead to better treatments and improve the genetic literacy of key stakeholders.
  • To carefully and ethically conduct large-scale genetic research in an Australian Aboriginal and Torres Strait Islander context;
  • Determine the genetic associations of susceptibility to RHD in Indigenous Australian communities.

Even though RHD is preventable, Australia has the highest recorded rates of the disease in the world. Many RHD sufferers in Australia die either because their disease is so severe that surgery can’t help, or because they don’t get a chance to even consider surgery.

Indigenous Australians are up to eight times more likely than non-Indigenous Australians to be hospitalised for Acute Rheumatic Fever (ARF) and RHD. They are 20 times more likely to die from the condition too.

On average, Indigenous people die from RHD in their mid-thirties, compared to non-Indigenous people with the same disease who can expect to live well into their sixties.

Many Indigenous people will get group A streptococcus infections but only some will develop RHD. It’s not well understood why some people are susceptible to RHD and others aren’t.

Enter RHD Genetics, a new collaborative study into the role genetics plays in the disease’s presence and progression.

Implications for policy and practice:

It’s anticipated the study will prompt further investigations into genetic determinants of disease among Indigenous Australians.

Project manager:
Contact information:
Project dates:

The study will run until 2015.


  • National Health and Medical Research Council (NHMRC)
  • Walter and Eliza Hall Institute (WEHI)
  • University of Melbourne
  • Curtin University
  • Telethon Institute of Child Health Research