1. European Commission. Rare Diseases. EU research on rare diseases [internet]. Available from: https://research-and-innovation.ec.europa.eu/research-area/health/rare-diseases_en [accessed 2023 Jun].
2. EURORDIS – Rare Diseases Europe. What is a rare disease? [internet]. Available from: https://www.eurordis.org/information-support/what-is-a-rare-disease/ [accessed 2024 Mar].
3. European Commission. Rare Diseases [internet]. Available from: https://health.ec.europa.eu/non-communicable-diseases/expert-group-public-health/rare-diseases_en [accessed 2023 Jun].
4. Global Genes. RARE Disease Facts [internet]. Available from: https://globalgenes.org/learn/rare-disease-facts/ [accessed 2023 Jun].
5. Elliot E, Zurynski Y. Rare diseases are a ‘common’ problem for clinicians. Aust Fam Physician 2015;44:630-33.
6. Tumiene B, Peters H, Melegh B, et al. Rare disease education in Europe and beyond: time to act. Orphanet J Rare Dis 2022;17:441.
7. Uhlenbusch N, Lowe B, Harter M, et al. Depression and anxiety in patients with different rare chronic diseases: A cross-sectional study. PLoS One 2019;14:e0211343.
8. Pelentsov LJ, Fielder AL, Laws TA, et al. The supportive care needs of parents with a child with a rare disease: results of an online survey. BMC Fam Pract 2016;17:88.
9. Anderson M, Elliott EJ, Zurynski YA. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis 2013;8:22.
10. Gimenez-Lozano C, Paramo-Rodriguez L, Cavero-Carbonell C, et al. Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain. Int J Environ Res Public Health 2022;19(16):10366.
11. Zurynski Y, Deverell M, Dalkeith T, et al. Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays. Orphanet J Rare Dis 2017;12:68.
12. Bhattacharya K, Millis N, Jaffe A, et al. Rare diseases research and policy in Australia: On the journey to equitable care. J Paediatr Child Health 2021;57:778-81.
13. Australian Government Department of Health. National Strategic Action Plan for Rare Diseases [internet]. Available from: https://www.health.gov.au/resources/publications/national-strategic-action-plan-for-rare-diseases [accessed 2023 Jan], 2020.
14. Mito Foundation. Understanding mito [internet]. Available from: https://www.mito.org.au/about-mito/mitochondrial-disease [accessed 2024 Apr].
15. National Health and Medical Research Council (NHMRC). Mitochondrial donation [internet]. Available from: https://www.nhmrc.gov.au/mitochondrial-donation [accessed 2024 Apr].
16. Mito Foundation. Home page [internet]. Available from: https://www.mito.org.au [accessed 2024 May].
17. Newson AJ, de Lacey S, Dowling DK, et al. Public attitudes towards novel reproductive technologies: a citizens’ jury on mitochondrial donation. Hum Reprod 2019;34:751-57.
18. United States National Library of Medicine. MedlinePlus: Spinal muscular atrophy [internet]. Available from: https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy/ [accessed 2024 Apr].
19. United States National Institute of Neurological Disorders and Stroke. Spinal muscular atrophy [internet]. Available from: https://www.ninds.nih.gov/health-information/disorders/spinal-muscular-atrophy [accessed 2024 Apr].
20. United States National Library of Medicine. Gene Reviews: Spinal muscular atrophy [internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1352/ [accessed 2024 Apr].
21. United States National Library of Medicine. MedlinePlus: SATB2-associated syndrome [internet]. Available from: https://medlineplus.gov/genetics/condition/satb2-associated-syndrome/ [accessed 2024 Apr].
22. United States National Library of Medicine. Gene Reviews: SATB2-associated syndrome [internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK458647/ [accessed 2024 Apr].
23. Lewis H, Samanta D, Orsell JL, et al. Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome. Pediatr Neurol 2020;112:94-100.
24. SATB2 Connect. Home page [internet]. Available from: https://satb2.org.au/ [accessed 2024 May].
25. Rare Voices Australia. Engaged, ethical and effective. A Guide for Rare Disease Organisation Leaders in Australia [internet]. Available from: https://rarevoices.org.au/launched-a-guide-for-rare-disease-organisation-leaders-in-australia/ [accessed 2024 Apr].
26. Australian Public Service Academy. Delivering great policy [internet]. Available from: https://www.apsacademy.gov.au/aps-craft/strategy-policy-evaluation/delivering-great-policy [accessed 2024 Apr].
27. Independent Commission Against Corruption South Australia. Policy framework [internet]. Available from: https://www.icac.sa.gov.au/documents/Integrity-Spotlight-Policy-Framework [accessed 2024 Apr].
28. Rare Voices Australia. RVA Education: Amplifying Advocacy Using the National Strategic Action Plan for Rare Diseases [internet]. Available from: https://education.rarevoices.org.au/courses/advocacy-and-the-national-strategic-action-plan-for-rare-diseases/ [accessed 2024 Apr].
29. Rare Voices Australia. RVA Education: Australia’s Rare Disease Landscape [internet]. Available from: https://education.rarevoices.org.au/courses/australias-rare-disease-landscape/ [accessed 2024 Apr].
30. Medicines Australia. Working Together Guide [internet]. Available from: https://www.medicinesaustralia.com.au/community/health-consumer-advocacy-and-support/working-together-guide/ [accessed 2024 Apr].
31. Association of State and Territorial Dental Directors. Handbook on Planning, Evaluating, and Improving Collaboration for Oral Health Programs [internet]. Available from: https://www.astdd.org/docs/collaboration-evaluation-handbook.pdf [accessed 2024 Apr], 2020.
32. Millis N. Why effective advocacy is more important than ever [internet]. Available from: https://www.linkedin.com/pulse/why-effective-advocacy-more-important-than-ever-nicole-millis/ [accessed 2024 Apr], 2020.
33. Health Issues Centre. The Kit: A Guide To The Advocacy We Choose To Do [internet]. Available from: https://hic.org.au/the-kit-a-guide-to-the-advocacy-we-choose-to-do/ [accessed 2024 Apr].
34. Medics 4 Rare Diseases. Rare Disease 101 – Australia (course) [internet]. Available from: https://learn.m4rd.org/mod/page/view.php?id=440 [accessed 2023 Jul].
35. NSW Health Agency for Clinical Innovation. Organisational co-design readiness assessment [internet]. Available from: https://aci.health.nsw.gov.au/__data/assets/pdf_file/0018/641601/ACI-template-organisational-co-design-readiness-assessment.pdf [accessed 2024 Apr].