MRFF funding awarded to national project to improve genetic disease diagnosis

Murdoch Children's Research Institute

A consortium of Australian and international partners that aims to leverage advances in AI technology to improve genetic disease diagnosis will be created after federal funding was awarded for the project.

The project will be led by a team from the Centre for Population Genomics, a joint initiative between Murdoch Children’s Research Institute (MCRI) and Garvan Institute of Medical Research.

The $8 million grant from the Medical Research Future Fund‘s Genomics Health Futures Mission, which funds research to integrate genomic knowledge and technology into clinical practice, was announced by Federal Health Minister Mark Butler.

Professor Daniel MacArthur, chief investigator on the grant and Director of the Centre for Population Genomics, is focused on building a more equitable future for genomic medicine. This field of medicine harnesses developments in genomics, data science and therapeutics to improve the prediction, diagnosis and treatment of disease.

The funding will be used to establish the Australian Alliance for Secure Genomics and AI in Rare Disease (AASGARD), designed to empower safer use of advanced analytics, including AI technology, to improve the diagnosis of genetic diseases.

Severe genetic diseases such as muscular dystrophy affect at least one in 17 Australians, disproportionately children. Clinicians need to know the precise DNA changes that have caused a disorder in order to provide the most effective care to patients and their families.

Professor MacArthur said, “Unfortunately, for nearly half of all Australian patients affected by these conditions, current approaches can’t provide a confident diagnosis, preventing families from accessing critical new precision medicines.

“A new wave of powerful analysis tools leveraging AI promises to change the way we diagnose genetic disease, just as they are transforming so many other fields.”

Victorian Clinical Genetics Service (VCGS) Clinical Geneticist and AASGARD second chief investigator Professor Zornitza Stark said, “For these methods to be used in clinical practice we need to make sure that they are both accurate and safe, and that requires very careful frameworks for testing and validating new tools and for integrating them into routine clinical care.”

The AASGARD consortium will include researchers and clinical laboratories in Australia, as well as research partners in the US and UK, working together to ensure these emerging technologies can help as many Australian patients as possible while maintaining the highest safety standards.

“The program will develop and rigorously test new AI-driven analysis tools, apply them to help tens of thousands of Australian patients, and share the resulting frameworks and knowledge so that others can benefit,” Professor MacArthur said.

AASGARD partners include Australian Genomics, led by MCRI Director Professor Kathryn North AC and Managing Director Tiffany Boughtwood, Australian Institute of Health Innovation (Macquarie University), Victorian Clinical Genetics Service; SA Pathology, Genomics England, the Broad Institute of MIT and Harvard and Microsoft Research

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