The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.
Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique.
There are over 7,000 rare diseases and over 80% of these are genetic in origin. Rare diseases are often complex, serious, chronic and progressive conditions with few treatment options, posing a variety of challenges to Australian healthcare and disability systems. With an estimated 2 million Australians living with a rare disease1 and the number of known rare diseases increasing thanks to advances in technology, including genomics, there is a lot to be learned.
Limited knowledge and data, and high unmet need are common challenges for rare diseases. Despite these gaps, and the crucial role for research and innovation in improving outcomes for people living with a rare disease, research is still lacking. Researchers struggle to secure funding and coordinate statistically robust studies with small patient numbers. There is often little interest in rare disease research and development from the pharmaceutical industry due to low demand for any specific product.1 Since the launch of the Australian Government’s National Strategic Action Plan for Rare Diseases2 in 2020, there has been targeted investment in rare disease research in Australia.
The information on this page is intended as a guide only. If you are aware of any additional information that may benefit stakeholders with an interest in this page or another page on the RARE Portal, or if you notice any broken links or misleading information, please let us know via the Contribute page.
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Policy | Research and Data Collection | Involving People Living With a Rare Disease in Research | Guides and Resources | Education | Funding Opportunities | Healthcare Professionals | Other Information | References
Rare Voices Australia (RVA) led the collaborative development of the Action plan, which was launched in 2020 by the Australian Government. The Action Plan is the first nationally coordinated effort to address rare diseases in Australia. Due to the great complexity, significant unmet need and critical urgency associated with rare diseases, systemic reform is required. The Action Plan represents the views of the rare disease sector and outlines a comprehensive, collaborative and evidence-based approach to achieving the best possible health and wellbeing outcomes for Australians living with a rare disease.2
Research into rare diseases should be informed by the end game—policy-backed systemic health reform that leads to better outcomes for Australians living with a rare disease. There are a range of relevant policies and reports driving change in rare disease care and support in Australia. Some of these are listed below.
- National Strategic Action Plan for Rare Diseases
- The New Frontier – Delivering better health for all Australians
- Newborn Bloodspot Screening – National Policy Framework
- Australian Government Department of Health and Aged Care – What we’re doing about rare diseases
- National Medicines Policy
- Disability & Rare Disease: Towards Person Centred Care for People with Rare Diseases
- Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia
- Cell and Gene Therapies: Rising to the Challenge
- National Clinical Trials Governance Framework and User Guide
- National Health Genomics Policy Framework
- National Approach to Genomic Information Management (NAGIM) Blueprint
Research and Data Collection
Research into rare diseases must address existing gaps and be informed by, and ultimately translatable to, clinical care.2 It must be collaborative and person-centred, and inform evidence-based policy across all systems, extending beyond health to incorporate disability, social/welfare, mental health, education, employment and housing.2 The Action Plan calls for investment into all types of research, including rare disease coding; data collection and registries; fundamental discovery research; qualitative research; pre-clinical testing; and clinical trials.2 Below are links to initiatives and organisations actively working to progress research into rare diseases. There are also links to information about Australian clinical trials, registries and biobanks.
The national peak body, RVA, can link researchers with over 100 rare disease organisations. RVA has many formal research partnerships. For more information please refer to the RVA Guidelines for Research Partnerships.
Rare Disease Consortia
- Australian Functional Genomics Network (AFGN) – connecting clinicians, diagnostic labs and researchers the use of the Australian Functional Genomics Researcher Registry, a database of model system teams in Australia
- Australian Genomics
- Garvan Institute of Medical Research: Rare Disease Program
Rare diseases are often serious and progressive, so taking timely action is critical. For many people living with a rare disease, participation in a clinical trial may be the only way to access treatment.2 Due to limited treatment options, it is essential that people living with a rare disease can benefit from new transformative treatments and health technologies through access to clinical trials. When speaking with potential participants it is important for researchers and healthcare professionals to discuss risk, benefit and other considerations to ensure informed consent and manage expectations. Below are links to clinical trials information and guidelines.
- Australian Clinical Trials – searchable database of the Australian New Zealand Clinical Trials Registry
- NIH Clinical trials.gov – database of privately and publicly funded clinical studies conducted around the world
- The National One Stop Shop – developing the requirements and specifications for streamlined human related research approvals
- National Clinical Trials Governance Framework and User Guide
- Department of Health and Aged Care – Clinical Trials Activity initiative
- Australian Clinical Trials Handbook
- Therapeutic Goods Administration (TGA) – Information about clinical trial schemes
- Australian Genomics – National clinical consent forms for genomic testing
Registries and Biobanks
The Action Plan calls for a national, coordinated and systemic approach to the collection and use of rare disease data to enable the monitoring and accumulation of knowledge for more timely and accurate diagnosis, best practice and health service planning. Registries are fundamental to increasing rare disease knowledge around clinical practice, epidemiology and post-market surveillance of therapeutics. They are also vitally important for linking people to clinical trials for new treatments and therapies. There are numerous registries collecting different types of data on specific rare diseases—both in Australia and overseas. To understand more about the rare disease registry landscape in Australia please read the Audit of Australian Rare Disease Registries. Below are some links to Australian registries and biobank information, as well as references to international best practice.
- Examples of Australian Rare Disease Registries
- Australian Health Biobank
- NSW Biobank Certification Program and Biobank Locator
- AFGN Researcher Registry
- The Australian Paediatric Surveillance Unit (APSU) – national resource to facilitate surveillance of uncommon childhood diseases and complications for more common diseases or adverse effects of treatment
- Human Disease Genes – international library of websites for professional information about genes and copy number variants and their clinical consequences
- EURORDIS-NORD-CORD Joint Declaration of 10 Key Principles for Rare Disease Patient Registries
- International best practice in rare disease registries:EPIRARE,3 Slovenia,4 EURORDIS Registries Fact Sheet.5
Involving People Living With a Rare Disease in Research
Supporting people living with a rare disease extends beyond healthcare into empowering them to participate in research. Often, people living with a rare disease become the drivers of research as they advocate for a diagnosis, treatments and improved quality of life for current and future generations.
It is vital for researchers to engage with, and actively listen to, people living with a rare disease when planning their research—from the conceptualisation of research questions, through to data collection and the dissemination and implementation of findings. Co-design with people living with a rare disease ensures research has greater impact and translation. This aligns with the priorities of research funding bodies. For more information about how best to involve people living with a rare disease in your research, visit the links below.
- The National Health and Medical Research Council (NHMRC) – Consumer and community engagement
- NHMRC – Consumer Involvement
- NHMRC – Statement on Consumer and Community Engagement in Health and Medical Research
- NHMRC – Ethical Guidelines for Research with Aboriginal and Torres Strait Islander Peoples
- NHMRC – National Statement on Ethical Conduct in Human Research
- NHMRC – Payment of participants in research: information for researchers HRECs and other ethics review bodies
- Australian Clinical Trials Alliance – The Consumer Involvement and Engagement Toolkit for researchers and research organisations
- Health Consumer NSW – Joint Research Training for consumers and researchers
- Health Consumers NSW – Information about consumer reimbursement
- Health Consumers NSW and Research4Me – Involving Health Consumer in Health and Medical Research: Enablers and Challenges from a Consumer Perspective
- Involving Consumers in Health and Medical Research: A practical handbook for organisations, researchers, consumers and funders
- Australian Ethical Health Alliance’s Australian Consensus Framework for Ethical Collaboration in the Healthcare Sector (ACF)
If you are looking for a rare disease organsation relevant to your research, please visit the A–Z Support Directory. For more information about a specific rare disease, please visit the A–Z list of rare disease information. If you do not find the rare disease you are looking for, please visit Genetic and Rare Diseases (GARD) Information Center for more information, remembering that information on GARD is based on the American healthcare system.
Guides and Resources
This section provides useful links to national guides and other general resources for researchers working on rare diseases.
- NHMRC Genomic resources for clinicians and researchers
- RD-CODE Project and ORPHAcodes– unique, time-stable and non-reusable numerical identifiers for rare diseases
- Online Mendelian Inheritance in Man (OMIM)
- Australian Genomics
- ClinVar (ClinGen Clinical Genome Resource) – freely accessible, public archive of reports of the relationships among human variations and phenotypes
- The Human Gene Mutation Database (HGMD®)
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Rapid advances in technology and rare disease knowledge demand a continuous commitment to education for all rare disease stakeholders. Below are links to rare disease education resources covering the areas of therapies, genomics, genetics, registries and biobanks, and lived experience stories.
- Learn from people living with a rare disease – personal stories shared with Rare Voices Australia
- Genomic Institute – Genomics Learning Centre
- NSW Centre for Genetics Education (a division of HETI)
- Melbourne Genomics Health Alliance
- NSW Government Health Pathology – Introduction to Biobanking Course
- Monash Clinical Registries – resources and Registry Special Interest Group (SIG)
- Australian Government Therapeutic Goods Administration (TGA): Considerations for researchers developing new therapeutics
- Queensland Health: Translating research into practice (TRIP)
- ANU National Centre for Indigenous Genomics (NCIG) – genome resource for the research community for projects that offer potential benefit to Indigenous Australians
The Australian Government has been investing in research for rare disease, including across related areas such as genomics, clinical trials, research data infrastructure, healthcare delivery and system sustainability. New government funding opportunities open regularly and can be found at the links below. There are also targeted opportunities for research funding offered by some consumer-led rare disease organisations.
- Research Australia: Funding Announcements
- Medical Research Future Fund (MRFF) Grant Opportunities Calendar
- NHMRC Partner Projects
Other links to information that may be of interest:
- Human Genetics Society of Australasia (HGSA)
- Genetic and Rare Diseases (GARD) Information Centre
- Rare Diseases International
- International Rare Diseases Research Consortium (IRDiRC)
- National Organization for Rare Diseases (NORD)
- Canadian Organization for Rare Diseases (CORD)
- Genetic Alliance UK
- EURORDIS – Rare Diseases Europe
- European Reference Networks
- European Joint Programme on Rare Diseases (EJPRD) Innovation Management Toolbox (IMT)
- Forman J, Taruscio D, Llera VA, Barrera LA, Coté TR, Edfjäll C et al. The need for worldwide policy and action plans for rare diseases. Acta Paediatrica [Internet]. 2012;101(8):805–7. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443385/
- Commonwealth of Australia. Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available From: https://www.health.gov.au/sites/default/files/documents/2020/03/national-strategic-action-plan-for-rare-diseases.pdf
- Taruscio D, Mollo E, Gainotti S, De La Paz MP, Bianchi F, Vittozzi L. The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration. Archives of Public Health. [Internet]. 2014;72(1):35. Available from: https://doi.org/10.1186/2049-3258-72-35
- Stanimirovic D, Murko E, Battelino T, Groselj U. Development of a pilot rare disease registry: A focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia. Orphanet J Rare Dis. [Internet]. 2019;14(1):172. Available from: https://doi.org/10.1186/s13023-019-1146-x
- EURORDIS Policy Factsheet – Rare Disease Patient Registries. 2013. EURORDIS Rare Diseases Europe. 2 p. Available from: https://www.eurordis.org/sites/default/files/publications/Factsheet_registries.pdf
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