Centre for Population Genomics (CPG)
Population genomics and equitable genomic medicine
At the Centre for Population Genomics, we are working to create a world in which genomic information enables comprehensive disease prediction, accurate diagnosis and effective therapeutics for all people.
Our mission is to establish respectful partnerships with diverse communities, collect and analyse genomic data at a transformative scale, and drive genomic discovery and equitable genomic medicine in Australia.
The Centre for Population Genomics, a partnership between Murdoch Children’s Research Institute (MCRI) and the Garvan Institute of Medical Research in Sydney, is focused on addressing this challenge. The Centre’s joint presence at these two institutes allows us to take advantage of our complementary strengths in genomic medicine: Garvan’s leadership in population genomics and data science, and MCRI’s deep expertise in working with large cohorts of children, rare paediatric diseases, and the translation of research findings into clinical outcomes.
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What's important about Population Genomics?
Medicine is going through a major shift thanks to rapid advancements in genomics, data science and therapeutics. These advancements are paving the way for the new field of genomic medicine. Genomic medicine approaches have already profoundly altered the treatment of cancer and the diagnosis of severe genetic diseases. It also has the potential for significant advances soon, allowing us to predict better, diagnose and treat various disorders.
Australia already uses genomic technologies in clinical settings, but we face a major challenge. Genomic medicine must compare patient data with data from many healthy individuals, but existing genomic resources lack representation from many large Australian communities. Unless this can be rapidly addressed, it will create increasing inequity in healthcare outcomes, with under-represented communities facing less accurate genetic diagnosis, poorer risk predictions, and more limited access to precision therapies.
Data Science and its importance for child health
Watch as Beckett asks Professor Daniel MacArthur to explain data science.
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Our projects
The Centre for Population Genomics develops population genomics tools and resources, and carries out major scientific projects in three key areas:
- Understanding the genetic diversity of Australia’s populations
- Using genetic and genomic data to explore gene function and find new therapeutic targets
- Using genomic technologies to improve the diagnosis and treatment of rare disease
Genetic diversity
Increasing inclusion of under-represented communities in genomic research.
OurDNA
This program is designed to address the critical gap in the representation of many Australian communities in genomic resources, which affects the ability of patients from these communities to benefit from genomic medicine. The program will assemble a resource of genetic variation data from over 25,000 Australians, including 10,000 newly generated high-quality whole-genome sequences from participants from under-represented groups recruited following deep community engagement and co-design.
The program is supported by a $10 million MRFF grant (2022-27), which involves a national consortium of 44 investigators from 24 institutions with expertise spanning community engagement, population studies, large-scale genomic sample acquisition, data generation and analysis, clinical and population genetics, ethics, economics and implementation science.
The overall aim of the OurDNA program is to improve the inclusion of communities of diverse ancestry in genomic research and contribute to making the benefits of genomic medicine accessible to all Australians.
Gene Function
Using naturally occurring genetic variation to explore the function of human genes.
Cell expression resource
We’re working with Professors Joseph Powell (Garvan Institute), Alex Hewitt (University of Tasmania) and Gemma Figtree (University of Sydney) to establish the largest cohort of both whole-genome sequencing and single-cell RNA-sequencing data ever generated globally. This will lead to the discovery of new biology. We'll explore how genetic variations influence gene activity in different cell types, which will help us understand the mechanisms of disease and enable future drug development.
Rare Disease
Leveraging new genomic and analysis methods at scale to improve diagnosis.
Collaborative rare disease diagnosis and gene discovery projects
Severe inherited diseases such as muscular dystrophy are individually rare but collectively common, affecting more than one in 12 Australian children. Our team has worked with clinical collaborators from across Australia to build the largest research-accessible cohort of rare disease families in the country, now spanning more than 5,000 individuals. We apply novel genomic and analysis methods to identify the underlying genetic causes of each family's condition, making it more likely that they can access better healthcare options, clinical trials, and effective treatments.
Automated interpretation pipeline
In partnership with national and international collaborators, we have developed an automated platform for regular reanalysis of genomic data from undiagnosed families, substantially increasing the probability of a successful diagnosis. This approach has already yielded more than 100 new diagnoses for families where initial genetic analysis was unsuccessful.