Rare Disease

Leveraging novel genomic and advanced analytics at scale to improve diagnosis

Building Australia’s largest collection of research-accessible rare disease genomic data

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 6,000 individuals across 3,500 families, creating Australia's largest research-accessible rare disease genomic database. This secure cloud-based collaborative analysis platform allows controlled access for clinicians and researchers to identify disease-causing genetic variants.
Hundreds of new diagnoses have already been returned to families as a result of our work. 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.

Harnessing advanced analytics to drive more successful diagnoses of rare diseases for undiagnosed families

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 Analysis of undiagnosed patients' data is often outdated, and the process cannot scale to meet the demands of population-scale genomic medicine.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.