The vision of CPG is a world in which genomic information enables comprehensive disease risk prediction, accurate diagnosis and effective therapeutics for all people.
The next decade will see a transformation of medicine and biology, driven in part by significant advancements in our understanding of the connections between human genetic variation and physical traits. This understanding will allow us to better predict and diagnose disease, and accelerate the discovery and validation of new therapeutic targets. However, current genomic resources are missing many Australian communities, raising the risk that advances in genomic medicine could widen health discrepancies between groups with different ancestry.
The Centre for Population Genomics is a collaboration between the Garvan Institute and the Murdoch Children’s Research Institute (MCRI) in Melbourne. Together, we are building the tools, resources and expertise required to implement population-scale genomic medicine in Australia, and to ensure that the health benefits of genomic technologies can bring benefits to all Australians, regardless of their ancestry.
To learn more about our research activities, visit the Centre for Population Genomics.
The Centre for Population Genomics establishes respectful partnerships with diverse Australian communities, works with those communities to collect and analyse genomic data at transformative scale and uses this data to drive both novel genomic discovery and the development of equitable genomic medicine.
Our flagship program, OurDNA, will involve working with multiple under-represented Australian communities to build a large-scale genomic resource that is more representative of this country’s diversity. This resource will improve our ability to interpret genetic changes found in Australians affected by severe genetic diseases, regardless of their ancestral background, and establishes the foundation for larger-scale studies that will help ensure that all Australian communities benefit from future advances in the prediction and treatment of disease.
The Centre also drives a national network leveraging cutting-edge genomic approaches to improve the diagnosis of patients affected by rare genetic disorders, and contributes to large-scale projects combining whole-genome sequencing and single cell RNA sequencing to understand blood cell biology and to guide the development of new therapeutics. Our projects are underpinned by a set of foundational platforms, including a cloud-based approach to genomic data management and analysis that allows us to tackle the largest genomic data sets ever assembled in Australia.
We aim to contribute to cultural change in Australian human genomics, transitioning from single-state and single-institution models to a national-level vision, and towards more open approaches to data sharing and collaborative science. To continue this legacy, we will train the next generation of Australian experts in genomics, statistical genetics, computational biology, bioinformatics and data science, to support a healthier population for decades to come.
The Centre for Population Genomics will advance genomic medicine by establishing a critical mass of expertise in population-scale genomics, developing population genomics tools and resources, and carrying out transformative scientific projects in three key areas.
Key research areas
Increasing the inclusion of under-represented communities in genomic research
Leveraging novel genomic and analysis methods at scale to improve the diagnosis of severe genetic disorders
Using naturally occurring genetic variation to explore the function of human genes.
Centre for Population Genomics staff are affiliated with both the Garvan Institute and the Murdoch Children’s Research Institute. We are a geographically distributed team, with staff based in Sydney, Melbourne and New Zealand.
Professor Daniel MacArthurDirector Centre for Population Genomics
Elise RichardsAssociate Director
Dr Hannah NicholasManager - Scientific Affairs (CPG)
Dr Ira DevesonLaboratory Head
Associate Professor Jodie InglesProgram Director - Rare Disease / Laboratory Head - Clinical Genomics
Katie de LangePopulation Analysis Lead
Maia AmbegaokarLead, Inclusive Genomics
Associate Professor Owen SiggsProgram Director - Rare Disease / Laboratory Head - Genomic Medicine
James FergusonGenomics Software Engineer
Jaye BrownSenior Project Coordinator
Jillian HammondGenomics Research Assistant
Joanna SweetingResearch Officer
Judy DoSenior Project Coordinator
Julia ForkgenResearch Assistant
Laura YeatesGenetic Research Counsellor / Research Counsellor
Matthew WellandClinical Computational Scientist
Melissa RapadasGenomics Laboratory Scientist
Michael SilkComputational Scientist
Igor StevanovskiLaboratory Research Assistant
Neesha KrishnanResearch Assistant
Nivetha GunasekaranProject Manager
Dr Rocio RiusClinical Variant Curator
Sabrina YanFull-Stack Software Engineer
Sophie HespePhD Student
Tim AmosGenomics Software Engineer
Vivian BakirisFull-Stack Software Engineer
Dr Zhen QiaoResearch Officer
Dr Alex ButtersClinical Laboratory Manager
Dr Andre Martins ReisSenior Research Officer
Dr Anna CuomoResearch Officer
Bindu MadalaOurDNA Biosample Manager
Caitlin UrenProject Officer
Daniel EspositoFull-Stack Software Engineer
Daniel RetiFront End Software Engineer
Ebony RichardsonResearch Genetic Counsellor
Dr Etienne Masle-FarquharSenior Research Officer
Felicity LeslieSenior Research Assistant
Fergus StaffordResearch Assistant
Dr Hasindu GamaarachchiVisiting Scientist
Hiruna SamarakoonPhD Student
Hope TanudisastroMasters Student
These papers highlight the world-leading work of Centre Director, Dr Daniel MacArthur. The Centre is building on these resources to extend the advantages of genomic medicine to all Australians. An updated list of recent publications will be included here soon.
- 2022Human Mutation10.1002/humu.24366
seqr: A web-based analysis and collaboration tool for rare disease genomics.
- 2021Human Mutation10.1002/humu.24309
Variant interpretation using population databases: Lessons from gnomAD.
- 2021Science (New York, N.Y.)10.1126/science.abi8207
From variant to function in human disease genetics.
The mutational constraint spectrum quantified from variation in 141,456 humans.
Evaluating drug targets through human loss-of-function genetic variation.