Centre for Population Genomics
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.
We believe everyone should be able to benefit from advances in genomic medicine.
Our mission
We aim to:
- Build respectful partnerships with diverse communities
- Collect and analyse genomic data at a transformative scale
- Drive discovery and equitable access to genomic medicine across Australia.
Our research focus
Our scientific and clinical programs are focused on three core areas:
- Genetic diversity: Increasing inclusion of under-represented communities in genomic research.
- Gene function: Using naturally occurring genetic variation to explore the function of human genes.
- Rare disease: Leveraging novel genomic and analysis methods at scale to improve diagnosis.
Our team
We are a remote-first, geographically distributed hub for innovation in genomics, data science, and clinical translation, with over 40 team members located across Australia and New Zealand.
Collaborations
The Centre for Population Genomics is a collaboration between the Murdoch Children’s Research Institute (MCRI) and the Garvan Institute of Medical Research in Sydney.
This joint presence allows us to harness complementary strengths: Garvan’s leadership in population genomics and data science, and MCRI’s expertise in large-scale paediatric cohorts, rare childhood diseases, and translating research into clinical care.
For more information please visit our website.
Visit the Centre for Population Genomics website
The importance of Population Genomics
Medicine is undergoing a major transformation, driven by rapid advances in genomics, data science, and therapeutics. These developments are shaping the emerging field of genomic medicine, which is already changing how we diagnose and treat disease.
Real-world impact
Genomic approaches have significantly improved cancer treatment and the diagnosis of serious genetic conditions. They also hold great promise for the future, helping us better predict, diagnose, and manage a wide range of health conditions.
The challenge in Australia
Australia is already using genomic technologies in clinical care, but there’s a key challenge: genomic medicine depends on comparing a patient’s data with data from many healthy individuals. Currently, genomic databases do not reflect the full diversity of Australia’s population and communities.
The risk of inequity
If this gap isn’t addressed rapidly, it will lead to growing inequities in healthcare outcomes. Under-represented communities may face:
- Less accurate diagnoses
- Poorer risk predictions
- Reduced access to personalised treatments
Data Science and its importance for child health
Watch as Beckett asks Professor Daniel MacArthur to explain data science.
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With your support, we can give more children have the opportunity to live a healthy and fulfilled life.
Contact us
Professor Daniel MacArthur
Director, Centre for Population Genomics
Email:
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Group Leaders
Group Members
Research focus
Our scientific and clinical programs are focused on three core areas:
- Genetic diversity: Increasing inclusion of under-represented communities in genomic research.
- Gene function: Using naturally occurring genetic variation to explore the function of human genes.
- Rare disease: Leveraging novel genomic and analysis methods at scale to improve diagnosis.
Genetic diversity
We are committed to increasing the inclusion of under-represented communities in genomic research. By building more representative genomic datasets, we aim to ensure that all Australians can benefit from advances in genomic medicine.
OurDNA - Australian Genetic Diversity Database
OurDNA is an initiative designed to address the critical lack of representation of many Australian communities in existing genomic resources. This gap limits the ability of patients from these communities to benefit from genomic medicine.
The program will create a comprehensive resource of genetic variation data from over 25,000 Australians. This includes 10,000 newly generated, high-quality whole-genome sequences from participants in under-represented groups, recruited through deep community engagement and co-design.
Get involved today.
Read more...Gene function
We use naturally occurring genetic variation to investigate how human genes work. Understanding gene function is essential for uncovering the biological mechanisms behind disease and identifying new opportunities for treatment.
Cell expression resource
We are collaborating with Professors Joseph Powell (Garvan Institute), Alex Hewitt (University of Tasmania), and Gemma Figtree (University of Sydney) to build the world’s largest dataset combining whole-genome sequencing and single-cell RNA sequencing.
This groundbreaking resource will enable researchers to:
- Discover new biological pathways
- Understand how genetic variation affects gene activity in specific cell types
- Reveal the molecular mechanisms that drive disease
- Support the development of future therapies
By linking genetic variation to gene expression at the single-cell level, this project will provide powerful insights into the mechanisms of disease and enable future drug development.
Rare disease
We use advanced genomic technologies and large-scale analysis methods to improve the diagnosis of rare genetic conditions.
Collaborative rare disease diagnosis and gene discovery
Severe inherited conditions such as muscular dystrophy. are individually rare but collectively common, affecting more than one in 12 Australian children.
To address this, we’ve partnered with clinical teams across the country to build Australia’s largest research-accessible cohort of rare disease families, now including over 5,000 individuals.
By applying new genomic and analytical techniques, we aim to identify the genetic causes behind each family’s condition. This knowledge can lead to:
- More accurate diagnoses
- Access to clinical trials
- Better healthcare and treatment options.
Automated interpretation pipeline
In partnership with national and international partners, we’ve developed an automated platform that regularly reanalyses genomic data from undiagnosed families. This innovative approach significantly increases the chances of finding a diagnosis over time.
To date, this pipeline has delivered over 100 new diagnoses for families who previously had no answers, demonstrating the power of continuous data interpretation in rare disease research.
Funding
Thank you to our supporters.
- 2023 Medical Research Future Fund Genomics Health Futures Mission grant
Collaborations
The Centre for Population Genomics is a collaboration between the Murdoch Children’s Research Institute (MCRI) and the Garvan Institute of Medical Research in Sydney.
Reports
CPG Reports (2023) Co-Design Workshops with NSW Filipino Australians: Outreach and communications to recruit participants to the OurDNA Program, Centre for Population Genomics, Garvan Institute of Medical Research & Murdoch Children's Research Institute, Sydney & Melbourne, Australia.
CPG Reports (2022) Diversity in genetic services and genomic datasets: A 2021 survey of clinical geneticists and genetic counsellors working in Australia, Centre for Population Genomics, Garvan Institute of Medical Research & Murdoch Children's Research Institute, Sydney & Melbourne, Australia.