Centre for Population Genomics
Population genomics and equitable genomic medicine
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 in the near future, allowing us to better predict, diagnose and treat various disorders.
Australia is already using genomic technologies in clinical settings, but we face a major challenge. Genomic medicine needs to 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.
The Centre for Population Genomics, a partnership between Murdoch Children’s Research Institute 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.
The Centre for Population Genomics’ mission is to:
- Build respectful partnerships with diverse Australian communities
- Work with these communities to collect and analyse genomic data at transformative scale
- Drive genomic discovery and ultimately a more equitable model for genomic medicine
Data science and its importance for child health
Watch as Beckett asks Professor Daniel MacArthur to explain data science.
Donate to the Centre for Population Genomics
With your support, we can ensure more children around the world live healthy and fulfilled lives.
Group Leaders
Group Members
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 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 genetic diseases are individually rare, but collectively common, with more than 7,000 conditions affecting more than two million Australians. The Centre for Population Genomics collaborates with clinicians and research scientists across Australia on 25 projects, including the Australian Undiagnosed Diseases Network. We have gathered data from over 5,000 individuals in rare disease families, which has helped to create Australia's largest research-accessible rare disease dataset. This data is stored in a cloud platform enabling identification of disease-causing genetic variants. Thanks to this work, hundreds of families have received diagnoses.
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.