Building a national rare disease research platform

A new Medical Research Future Fund (MRFF) grant for National Critical Research Infrastructure, announced in July 2026, will expand CaRDinal into a national research infrastructure for rare disease studies across Australia. Supported by the GUARDIANS Program, CaRDinal is a secure, cloud-based platform purpose-built for collaborative rare disease genomic analysis.

CaRDinal was launched in 2022 by the Centre for Population Genomics, and is designed to be used directly by clinical researchers as well as bioinformaticians. Without needing to write code or run their own analyses, they can explore a family's genetic variants and pinpoint the change most likely to explain their condition. With the benefit of data from many studies processed the same way in one place, it becomes easier to find the same gene implicated in unrelated families, which is often the key to identifying a new disease gene. 

Since 2024, CaRDinal's growth has been supported by the GUARDIANS Program, which has helped new research cohorts join the platform.

‘Every cohort that joins CaRDinal makes the platform more useful for everyone on it, because each new family increases the chance of finding a match for someone else,’ says Dr Cas Simons, Rare Disease Program Lead at the Centre for Population Genomics. 

‘The new MRFF funding means we can open CaRDinal up to rare disease researchers right across the country and help bring answers to more families sooner.’

Why is a platform like CaRDinal needed?

More than two million Australians live with a rare disease, yet over half of those who undergo genomic testing remain undiagnosed. Often, this is a data and tooling problem, as the causative genes have not yet been discovered, there is no routine way to revisit static data when new genes are identified, and clinical researchers frequently lack the bioinformatics tools to explore complex genomic datasets themselves.

CaRDinal enables research groups studying rare diseases to bring their patients' genomic data onto the platform, where it is processed in a consistent way and made ready for analysis. As of September 2026, CaRDinal holds genomic data from more than 11,600 people in over 5,700 families living with a rare disease, drawn from over 40 research cohorts across Australia, making it the largest accessible collection of rare disease genomic data in the country. 

Over 400 researchers have used the platform, contributing to over 1,000 genetic diagnoses and many new discoveries.

How can unresolved cases be reanalysed?

Bringing data together on a shared platform also makes it possible to tackle a persistent barrier to diagnosis - revisiting unsolved cases as knowledge grows. Every year, hundreds of new disease genes and disease-causing variants are reported, so a family whose genomic test found no answer a few years ago may have one today. 

To address this, the Centre for Population Genomics developed Talos, an open-source tool that automatically compares genomic data against the latest knowledge of disease genes and variants. Talos is now integrated with CaRDinal and reanalyses families on the platform every month, flagging new candidate diagnoses for research teams to review.

Visit the CaRdinal website

Start using Talos

The Centre for Population Genomics is a joint national initiative of Garvan Institute of Medical Research and Murdoch Children’s Research Institute.  

The GUARDIANS program is accelerating human omics research in Australia through the development of world-class digital infrastructure. The program is led by Australian BioCommons with contributions from partner organisations including the Australian Access Federation, Children’s Cancer Institute Australia, Garvan Institute of Medical Research, National Computational Infrastructure, QIMR Berghofer Medical Research Institute, The University of Melbourne, and The University of Sydney. GUARDIANS forms part of Australian BioCommons’ Human Genome Informatics Initiative and receives National Collaborative Research Infrastructure Strategy support through Bioplatforms Australia.