Researchers

Researchers

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.

Policy

Research and Data Collection

Research Partnerships

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

Clinical Trials

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.

Involving People Living With a Rare Disease in Research

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

Education

Funding Opportunities

Other Information

Other links to information that may be of interest:

References

  1. 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/
  2. 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
  3. 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
  4. 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
  5. 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

Page Last Updated

23 January 2025