There are more than 7,000 genetic diseases that collectively affect at least one in every 17 Australians, disproportionately children. For nearly half of all Australians affected by these conditions, current approaches can't provide a confident diagnosis.
Without a diagnosis, families affected by genetic disease cannot access family planning options, critical new precision medicines, or design optimal healthcare plans.
We are working with clinicians and research scientists across Australia on more than 20 projects, including the Australian Undiagnosed Diseases Network, to find answers for more families affected by genetic disease.
Through this network, we have assembled data from over 11,600 individuals across 5,900 families (as of October 2026), creating Australia's largest research-accessible rare disease genomic database. Our cloud-based collaborative analysis platform, CaRDinal, enables secure data sharing, provides cutting-edge analysis tools, and supports collaborative interpretation by clinicians and researchers to more efficiently identify disease-causing genetic variants.
960 new diagnoses have already been returned to families as a result of our work (as of June 2026). Our scientific and clinical impact also provides a foundation for a wide variety of downstream research projects to understand the genetic basis of rare disorders and the identification of new therapeutic targets.
Current genetic disease diagnosis is manually intensive, requiring hours of effort from expert curators, making genetic testing expensive and time-consuming. Analysis of undiagnosed patients' data is often outdated, and the process cannot scale to meet the demands of population-scale genomic medicine.
To build a more scalable model for genomic analysis, our team is partnering with national and international collaborators to build an automated platform for regular reanalysis of genomic data from undiagnosed families.
This approach – which can be run quickly and cheaply on thousands of samples – has already yielded more than 150 new diagnoses for families where initial genetic analysis was unsuccessful.
We are working with academic, industry, and clinical partners to establish integrate powerful new AI technologies into the diagnosis of rare genetic disease, applying them to large research cohorts and deploying them at scale in clinical labs nationwide.
Analysis was supported by the Centre for Population Genomics (Garvan Institute of Medical Research and Murdoch Children’s Research Institute) and was funded in part by a National Health and Medical Research Council (NHMRC) investigator grant (2009982), the Medical Research Future Fund (MRFF) Genomics Health Futures Mission (2008820 and 2032931), and an MRFF National Critical Research Infrastructure grant (NCRIXXIV000186).
This work also forms part of Australian BioCommons’ GUARDIANS program, which is enabled by NCRIS investment via Bioplatforms Australia