Murdoch Children's Research Institute (MCRI) Professor Daniel MacArthur and his team have secured federal funding to expand a cutting-edge system for genetic disease analysis into a national platform.

The $3 million National Critical Research Infrastructure Grant from the Medical Research Future Fund (MRFF) will extend the reach of CaRDinal, an advanced genomic platform that has helped find diagnoses for 450 rare disease patients.

CaRDinal is embedded into the Centre for Population Genomics (CPG), a joint initiative between MCRI and the Garvan Institute of Medical Research in Sydney. It stores and securely shares genetic data from 10,000 people across 34 national sites, representing the largest collection of accessible genomic data from rare disease patients in Australia. 

Image: Professor Daniel MacArthur

Professor MacArthur said the support would help reach the hundreds of thousands of additional Australians who carry a rare genetic condition. 

“Although individually uncommon, rare genetic diseases collectively pose a significant burden, accounting for about 20 per cent of infant deaths and 10 per cent of paediatric hospital admissions,” he said. “Right now, we understand the genetic cause of this disease in less than half of all affected families, leaving many thousands without the answers they need to access reproductive testing, clinical trials and effective treatment."

“CaRDinal supports a network of nearly 300 researchers, allowing them to quickly identify precise genetic changes that may be responsible for disease. However, in order to reach more families, we need to make this technology more broadly available.” 

CPG Rare Disease Program Lead Dr Cas Simons said the platform would soon take in patients from other Australian rare disease groups. 

“Genomics is a rapidly expanding field and CaRDinal is the key to creating a truly national rare disease research platform,” he said. “By bolstering the infrastructure behind CaRDinal, integrating the latest artificial intelligence and data sharing innovations, lowering technical barriers and training more professionals on how to use the platform, we can help bring answers to families faster.” 

Professor MacArthur said his team will model the same consent and safety standards set by the Global Alliance for Genomics and Health (GA4GH). 

Researchers from the Garvan Institute of Medical Research in Sydney and the Victorian Clinical Genetics Services (VCGS) will also contribute to the project. 

Read more about the Centre for Population Genomics.