Introducing the South African Rare Diseases Access Initiative

Authors

  • H Malherbe Centre for Metabolomics, North-West University & Rare Diseases South Africa NPC

DOI:

https://doi.org/10.7196/SAMJ.2023.v113i8.1142

Keywords:

rare diseases, healthcare access, South Africa, diagnostics, care

Abstract

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References

Orphanet. Prevalence and incidence of rare diseases: Bibliographic data. Diseases listed by decreasing

prevalence, incidence or number of published cases. Paris: Orphanet, 2022. https://www.orpha.net/

orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf

(accessed 5 March 2022).

European Organisation on Rare Diseases. Rare diseases: Understanding this public health priority.

Paris: EURORDIS, 2005. https://www.eurordis.org/wp-content/uploads/2009/12/princeps_

document-EN.pdf (accessed 23 April 2023).

Haendel M, Vasilevsky N, Unni D, et al. How many rare diseases are there? Nat Rev Drug Discov

;19(2):77-78. https://doi.org/10.1038/d41573-019-00180-y

Rare Diseases International. Operational Description of Rare Diseases. A Reference to Improve the

Recognition and Visibility of Rare Diseases. Paris: RDI, 2022. https://www.rarediseasesinternational.

org/description-for-rd/ (accessed 30 March 2022).

Statistics South Africa. Statistical Release P0302. Mid-year population estimates 2022. Pretoria: StatsSA,

https://www.statssa.gov.za/publications/P0305/P03052021.pdf (accessed 20 February 2023).

Council of the European Union. Council recommendation on action in the field of rare diseases. J Eur

Comm 2009:C151/7-C151/10. https://eur-lex.europa.eu/legal-content/EN/TXT/?uri=celex%3A3200

H0703%2802%29 (accessed 23 April 2023).

Wakap SN, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases:

Analysis of the Orphanet database. Eur J Hum Genet 2020;28(2):165-173. https://doi.org/10.1038/

s41431-019-0508-0

Black N, Martineau F, Manacorda T. Diagnostic odyssey for rare diseases: Exploration of potential

indicators. Policy Innovation Research Unit. London: School of Hygiene and Tropical Medicine, 2015.

https://piru.ac.uk/assets/files/Rare%20diseases%20Final%20report.pdf (accessed 23 April 2023).

US Food and Drug Administration. Rare disease cures accelerator – to support innovation and quality

in rare disease drug development USA. Maryland: FDA, 2022. https://www.fda.gov/drugs/regulatoryscience-research-and-education/rare-disease-cures-accelerator (accessed 23 April 2023).

Rare Diseases Access Initiative. Call for a National Rare Disease Framework. Johannesburg: Rare

Diseases South Africa, 2020.

Rare Diseases Access Initiative. Workshop Report: Rare Diseases Access Initiative (RDAI): ‘Advancing

into Action’. 27 October 2022. Johannesburg: Rare Diseases South Africa, 2023.

National Department of Health, South Africa. National Health Insurance Policy for National Health

Act No. 61 of 2003. Towards Universal Health Coverage. Government Gazette No. 40955:627. Pretoria:

NDoH, 2017.

United Nations General Assembly. Sustainable Development Goal 3: Ensure Healthy Lives and Promote

Wellbeing for All and at All Ages. Geneva:

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Published

2023-08-03

Issue

Section

Correspondence

How to Cite

1.
Malherbe H. Introducing the South African Rare Diseases Access Initiative . S Afr Med J [Internet]. 2023 Aug. 3 [cited 2025 Apr. 24];113(8):8. Available from: https://samajournals.co.za/index.php/samj/article/view/1142