The Challenge
Rare diseases often go undiagnosed, especially in minority population groups. Many families from these communities struggle to access genetic diagnoses, limiting their ability to receive appropriate medical care and support.
This project aims to address this gap by improving the genomic diagnosis of rare diseases specifically among minority population groups across Australia
Project Overview
The Centre for Population Genomics (CPG), led by Professor Daniel MacArthur, is dedicated to enhancing the capacity for genomic diagnosis of rare diseases in under-represented ancestry groups. This involves collecting and analysing genomic data from these populations and integrating it into a comprehensive genomics database to benefit all Australians.
Project Outcomes
The project’s goal is to build genomic resources that represent Australia’s diverse communities. This is achieved through:
- OurDNA Samples: A biospecimen repository
- OurDNA Data: Controlled-access genomic datasets
- OurDNA Browser: An open-access reference database
These resources are critical for accurately interpreting genomic tests and directly contribute to delivering diagnoses for Australian families.
Measuring Impact
Hearts & Minds measures its impact across six core categories as developed by the Association of Australian Medical Research Institutes. Key highlights include:
Advancing Knowledge
- Collaborative projects: The CPG is working with research and clinical partners on 37 active research projects.
Knowledge sharing: CPG’s work in rare disease diagnosis and the OurDNA program has been presented at seminars and conferences worldwide.
Recognition: Lead researcher Professor Daniel MacArthur received the 2025 European Society of Human Genetics (ESHG) Award for outstanding achievement in human genetics, recognising his leadership in making genomic medicine more equitable and accessible.
Community reach: OurDNA has partnered with 22 community organisations and 39 individuals, including bicultural workers, to recruit 2,000 participants from the Filipino and Vietnamese communities in Melbourne and Sydney. - Media coverage: The project has featured in 12 articles and interviews, including in The Australian, SBS Filipino and ABC Radio.
Research Capacity Building
- External committees: Professor MacArthur serves on the Advisory Board for the Australian Alliance for Artificial Intelligence in Healthcare.
Rare disease platform: The CPG’s CaRDinal platform is expanding access to best-practice genomic analysis for Australia’s rare disease research community.
Nationwide reach: Across Australia, 37 research cohorts and around 300 clinicians and researchers use the CaRDinal platform and its web-based analysis tool, seqr, to share data and knowledge that accelerate discovery for rare disease research.
Health Impacts
- Improved diagnosis and treatment: The CPG has provided diagnoses to more than 450 families affected by rare diseases, often ending years of uncertainty and guiding access to specialised care.
Global impact: Through novel gene discovery, CPG has contributed to diagnoses worldwide. For example, identifying RNU4-2 as a disease-associated gene is estimated to explain developmental delay and intellectual disability in more than 100,000 people globally.
Economic Impacts
- Access to Expertise: A comprehensive genomics database will enable clinicians and families to obtain genetic diagnoses, allowing Australians to make informed decisions about their future and potential treatments.
This project is a vital step towards equitable genomic diagnosis for rare diseases. It ensures that all Australians, regardless of their ancestry, have access to accurate diagnoses, targeted care and the best possible health outcomes.
Funding support from Hearts and Minds Investments, as nominated by Core Fund Manager, Tribeca Investment Partners. This content was last updated in August 2025, for further information and updates, visit the Centre for Population Genomics.
