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.
A unified platform to support rare disease analysis from data to diagnosis:
research cohorts
individuals
families
exomes
genomes
long read genomes
researchers who have used the platform
Are you interested in joining CaRDinal or have questions?
Reach out to us at: cardinal@populationgenomics.org.au
Institution: Harry Perkins Institute of Medical Research
Chief Investigator: Nigel Laing
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.
Institution: VCGS / MCRI / RCH
Chief Investigator: Sue White, Tiong Tan
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.
Institution: MCRI
Chief Investigator: John Christodoulou
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.
Institution: James Cook University / The University of Queensland
Chief Investigator: Andrew Mallett
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.
Institution: Peter MacCallum Cancer Center
Chief Investigator: Piers Blombery
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.
Institution: Garvan
Chief Investigator: Owen Siggs, Jodie Ingles
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.
Institution: MCRI
Chief Investigator: David Thorburn
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.
Institution: Sydney Children's Hospitals Network, The Children's Hospital at Westmead
Chief Investigator: Elizabeth Emma Palmer, Alan Ma
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.
Institution: University of Western Australia
Chief Investigator: Gina Ravenscroft
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.