Centre for Population Genomics

Genomic diagnosis and gene discovery in rare disease (GDRD)

(PI: Professor Daniel MacArthur, Centre for Population Genomics)

The GDRD project provides the CPG with an overarching framework to collaboratively analyse genomic data, on our seqr analysis platform, using existing and previously consented rare diseases cohorts with the aim of identifying novel disease-causing genetic variants and genetic diagnoses.

By combining existing sets of undiagnosed rare disease cohorts with innovative analytical approaches, this project aims to address the technical, statistical, and functional barriers that hinder the completion of a Mendelian gene catalogue. By addressing these, we hope to further increase the speed and accuracy of genetic diagnosis, which is critical for providing patients and their families with information about the likely future course of the disease, guiding supportive therapy, and reproductive counselling.


Collaborating GDRD projects

Supported by our GDRD overarching framework, we are working with a number of rare diseases researchers, clinicians and projects across Australia, including:

  • Clinical Immunogenomics Research Consortium Australasia (CIRCA) (PI: Professor Stuart Tangye, Garvan Institute of Medical Research): This project is a trans-Tasman collaborative study to identify and understand causative genetic mutations in immunological diseases, and reveal mechanisms of disease pathogenesis. We will then use these findings to help improve outcomes for the patient, their families and other individuals with similar immune diseases.Find out more here.
  • Rare Diseases Now (RDNow) (PI: Associate Professor Sue White, Murdoch Children’s Research Institute): This project, funded by Melbourne’s Royal Children’s Hospital Foundation, aims to establish a pathway for children with rare diseases that remain undiagnosed, even after genomic testing. The project seeks to give these children the best chance of receiving a diagnosis and to access the latest clinical trials and treatments.Find out more here.
  • Mitochondrial Diagnostic Network for Genomics and Omics (PI: Professor David Thorburn, Murdoch Children’s Research Institute): This project seeks to harness new genomic (DNA) technologies plus “omic” analyses of RNAs, proteins and small molecules to improve the diagnostic rate in patients with Mitochondrial Diseases, the most common group of inherited metabolic disorders. Find out more here.
  • Undiagnosed Diseases Network Australia (UDN-Aus) (PI: Professor John Christodoulou, Murdoch Children’s Research Institute): this project brings together a national team of medical specialists, diagnostic laboratories, computing experts and researchers to harness the latest genomic technologies, and emerging computer and laboratory-based tools to boost the diagnosis in undiagnosed individuals to over 70%. Find out more here.
  • Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders (PI: Dr Piers Blombery, Peter MacCallum Cancer Centre): This project seeks to identify novel genetic causes and improve diagnosis for patients with inherited bone marrow failure and related disorders. This project will provide comprehensive genetic analysis for 350 patients with these rare diseases from around Australia.
  • Closing the gap in diagnosis of neurological disorders including ataxias and neuropathies (PI: Professor Nigel Laing, The University of Western Australia): This project is a national collaboration that aims to identify new genetic causes of inherited brain, spinal cord and nerve diseases that are not currently picked up by standard clinical testing pathways. This cohort of patients with mostly adult-onset neurodegenerative diseases has been neglected and remain without a genetic diagnosis following comprehensive diagnostic testing. This represents a huge unmet need. This project will deliver diagnoses for patients and ensure that new findings are implemented into associated clinical diagnostic laboratories to increase the diagnostic percentages for these diseases in Australia.
  • KidGen National Kidney Genomics Program (PI: Professor Andrew Mallett, James Cook University): this is an Australian national and translational genomics program addressing the need to urgently improve the identification and diagnosis of inherited and genetic forms of kidney disease. Using an established national network of renal genetics clinics, they will apply cutting edge genomic approaches to improve the genetic diagnosis rate. Find out more here.