The birth of a child is one of life’s most joyous moments. But for Mel Anderson, the overwhelming happiness of welcoming her baby girl, Sarah, was quickly overshadowed by fear and uncertainty. Within hours of her birth, Sarah’s health took a concerning turn. “By the 36th hour, I had a floppy child who still hadn’t […]
CaRDinal
A national platform accelerating rare disease diagnosis and discovery for Australian families through collaborative research across Australia and beyond.
The CaRDinal platform, led by the Rare Disease Team at the Centre for Population Genomics (CPG), is a national, cloud-based infrastructure designed to support collaborative rare disease genomic analysis. It brings together secure data sharing, cutting-edge analysis tools, and collaborative interpretation to enable faster diagnoses and large-scale discoveries that are difficult to achieve in isolation.
What CaRDinal offers
A unified platform to support rare disease analysis from data to diagnosis:
- Secure, cloud-based infrastructure hosted on Google Cloud Platform, with strong data governance and controlled access.
- Automated data ingest and metadata integration including direct links to major sequencing providers and REDCap databases.
- Best-practice analysis pipelines for SNVs, SVs, CNVs, STRs, mitochondrial variants, and long-read genomes.
- Collaborative variant interpretation through seqr, an intuitive interface supporting team-based diagnosis and discovery.
- Automated monthly reanalysis with Talos, using the latest clinical databases (e.g. ClinVar) to surface new findings in unsolved cases.
- A growing national meta-cohort that enables cross-study analysis and gene discovery beyond the scope of individual projects.
- Integrated matchmaking features to support coordinated gene discovery across studies.
- Hands-on onboarding and support from the CPG team to guide platform use and troubleshooting.
CaRDinal
at a glance
38
research cohorts
9,000
individuals
4,800
families
3,350
exomes
6,150
genomes
280
long read genomes
300
researchers who have used the platform
Why collaborate?
- Increase your diagnostic yield
- Contribute to national-level gene discovery
- Retain full data ownership and control
- Receive comprehensive support for data ingestion, analysis, and results sharing
- Be part of a platform that translates genomic science into real-world impact
How to join CaRDinal
Are you interested in joining CaRDinal or have questions?
Reach out to us at: cardinal@populationgenomics.org.au
Featured projects
Closing the gap in diagnosis of neurological disorders
Closing the gap in diagnosis of neurological disorders including ataxias and neuropathies – a trans-Australia collaboration. This project aimed to identify the genetic determinants of neurogenetic disorders such as ataxias, hereditary spastic paraplegia and neuropathies.
RDNow
Offers advanced multi-omics diagnoses and personalised care to children from the Royal Children’s Hospital who remain undiagnosed after standard genomic testing. A secure diagnosis facilitates access to cutting-edge treatments, clinical trials, and research.
UDNAus
The Australian Undiagnosed Disease Network (UDN-Aus) is a national initiative working to lift genomic diagnosis rates above 70% for people with undiagnosed rare genetic conditions, enabling precise, personalised care. It brings together medical specialists, laboratories, computing experts, consumers, and researchers to harness cutting-edge genomic and analytical tools to solve these challenging cases.
KidGen
KidGen is a national collaborative dedicated to improving care for people with genetic kidney disease. Bringing together clinicians, researchers, and scientists across Australia, KidGen combines cutting-edge research, advanced diagnostics, and workforce education to deliver better outcomes for patients and families.
IBMDx
The IBMDx study uses whole genome and transcriptome sequencing to improve diagnosis of inherited bone marrow failure syndromes and related disorders, which are rare, genetically diverse conditions that can appear at any age. The study aims to deliver definitive diagnoses, deepen understanding, and assess the impact and practicalities of implementing genomic testing in healthcare.
Genomics of Rare Disease Registry
The Genomics of Rare Disease Registry is a national initiative to uncover and understand the genetic causes of rare diseases, aiming to improve their identification, understanding, and management.
MitoMDT
MitoMDT is a national network of clinicians, researchers, and diagnostic scientists combining genomics and other omics technologies to improve mitochondrial disease diagnosis to over 70%. The project aims to uncover new genes, mechanisms, and phenotypes, enabling personalised treatments and better patient outcomes.
GeneAdd
GeneAdd is an undiagnosed diseases program supporting patients with a suspected rare genetic condition who have not yet received a diagnosis to participate in research to reach a diagnosis as quickly as possible. The program also provides an enabling framework for research to develop new treatments.
Ravenscroft Rare Disease
The Ravenscroft Rare Disease cohort aims to identify genetic causes underlying rare disease, the cohort consists of diverse phenotypes including myopathy, muscular dystrophy, fetal akinesia, arthrogryposis, metabolic myopathy, rhabdomyolysis, neuropathy, OPDM, movement disorders, cardiomyopathy, aortopathy.
Stories from the CaRDinal community
When Abbey was born, everything seemed to go smoothly. “Well, no labour is truly uneventful, but there was nothing that stood out,” said her mum Sarah. Things shifted when Abbey was about three months old and she began showing signs of developmental delays. She was slow to reach milestones, and her parents grew increasingly concerned. […]