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 CPG’s mission is to develop tools and resources that lay the foundations for a more equitable approach to the diagnosis, and ultimately treatment, of genetic disease for Australia’s diverse communities. This will be achieved through a number of key programs:
- The OurDNA program is engaging with under-represented communities to build a more representative genomic resource for these groups, essential for accurately interpreting genomic tests and providing accurate diagnoses to Australian families.
- The Talos automated platform for reanalysis of genomic data from undiagnosed families affected by severe genetic diseases to improve diagnosis rates. Talos enables genomic test providers to revisit existing genomic data regularly and efficiently, applying the latest knowledge from the international rare disease community to support new diagnoses.
- The CaRDinal platform (previously known as the rare disease platform), which has brought together genomic data from more than 5,000 individuals from families affected by genetic disease, and has already provided new diagnoses back to over 250 families.
Measuring Impact
Hearts and 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 collaborating on more than 30 research projects across at least 15 disease areas, including kidney disease, bone marrow failure, mitochondrial disease, neurodegeneration/ataxia, cardiac disease, leukodystrophies, and immune diseases.
- Research Partners: The CPG’s collaborative partners include medical research institutes, universities, and clinical genetics laboratories like the Victorian Clinical Genetics Service.
Research Capacity Building
- Knowledge Sharing: The CPG’s CaRDinal platform supports best practice genomic analysis for the Australian rare disease research community. It supports over 200 active users, fostering rapid sharing of data, knowledge, and ideas.
Health Impacts
- Improved Diagnosis and Treatment: The work at the CPG has provided diagnoses to over 250 families affected by rare diseases, allowing them to access support. This number will continue to grow as the database expands and their analysis tools improve.
- Improved Health Status: Although treatments are currently not available for the majority of the 7,000 known rare genetic disorders, the CPG are in a period of rapid development of new therapeutic approaches that will likely lead to the emergence of new effective treatments. A genetic diagnosis is essential for patients to be able to enter clinical trials or access these new medicines.
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 crucial step towards providing equitable genomic diagnosis for rare diseases, ensuring that all Australians, regardless of their ancestry, have access to the best possible healthcare and support.
Funding support from Hearts and Minds Investments, as nominated by Core Fund Manager, Tribeca Investment Partners. This content was last updated in July 2024, for further information and updates, visit the Centre for Population Genomics.
