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A call for global action for rare diseases in Africa

The 11th International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opportunities for, Africans living with rare diseases. The following ICORD Global Call to Action, developed in collaboration with the International Rare Diseases Research Consortium, synthesizes the outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health.

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Fig. 1: Population genome data across Africa.

References

  1. 1.

    WA Rare Diseases Strategic Framework 2015–2018 (Government of Western Australia Department of Health, 2018); http://ww2.health.wa.gov.au/Reports-and-publications/WA-Rare-Diseases-Strategic-Framework-2015-2018

  2. 2.

    Valdez, R., Ouyang, L. & Bolen, J. Prev. Chronic Dis. 13, 150491 (2016).

    Article  Google Scholar 

  3. 3.

    Rare Diseases: Understanding This Public Health Priority (European Organisation for Rare Diseases, 2005); https://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf

  4. 4.

    2013 Report on the State of the Art of Rare Disease Activities in Europe (European Union Committee of Experts on Rare Diseases, 2013); http://www.eucerd.eu/upload/file/Reports/2013ReportStateofArtRDActivities.pdf?bcsi_scan_313cddce030931be=0&bcsi_scan_filename=2013ReportStateofArtRDActivities.pdf

  5. 5.

    Schieppati, A., Henter, J. I., Daina, E. & Aperia, A. Lancet 371, 2039–2041 (2008).

    Article  Google Scholar 

  6. 6.

    Ogunrin, O., Taiwo, F. & Frith, L. J. Empir. Res. Hum. Res. Ethics 14, 78–87 (2019).

    Article  Google Scholar 

  7. 7.

    Pepper, M.S. et al. S. Afr. J. Sci. https://doi.org/10.17159/sajs.2018/a0302 (2018).

  8. 8.

    Dawkins, H. J. S. et al. Clin. Transl. Sci. 11, 11–20 (2018).

    Article  Google Scholar 

  9. 9.

    Taruscio, D., Floridia, G., Salvatore, M., Groft, S. C. & Gahl, W. A. Adv. Exp. Med. Biol. 1031, 25–38 (2017).

    Article  Google Scholar 

  10. 10.

    Taruscio, D. et al. Mol. Genet. Metab. 116, 223–225 (2015).

    CAS  Article  Google Scholar 

  11. 11.

    Manolio, T. A. et al. Nature 461, 747–753 (2009).

    CAS  Article  Google Scholar 

  12. 12.

    Gravel, S. et al. Proc. Natl Acad. Sci. USA 108, 11983–11988 (2011).

    CAS  Article  Google Scholar 

  13. 13.

    Bustamante, C. D., Burchard, E. G. & De la Vega, F. M. Nature 475, 163–165 (2011).

    CAS  Article  Google Scholar 

  14. 14.

    Muenke, M., Adeyemo, A. & Kruszka, P. Genet. Med. 18, 1085–1087 (2016).

    Article  Google Scholar 

  15. 15.

    Bilkey, G. A. et al. Front. Public Health 7, 42 (2019).

    Article  Google Scholar 

  16. 16.

    Malherbe, H. L., Christianson, A. L., Woods, D. & Aldous, C. J. Community Genet. 8, 65–73 (2017).

    Article  Google Scholar 

  17. 17.

    Taruscio, D. et al. Public Health Genomics 17, 115–123 (2014).

    Article  Google Scholar 

  18. 18.

    Taruscio, D. et al. Adv. Exp. Med. Biol. 1031, 301–322 (2017).

    Article  Google Scholar 

  19. 19.

    Lebese, V., Aldous, C. & Malherbe, H. L. S. Afr. Med. J. 106, 992–995 (2016).

    CAS  Article  Google Scholar 

  20. 20.

    Rajmil, L., Perestelo-Pérez, L. & Herdman, M. Adv. Exp. Med. Biol. 686, 251–272 (2010).

    Article  Google Scholar 

  21. 21.

    Taruscio, D. et al. Public Health Genomics 18, 184–191 (2015).

    Article  Google Scholar 

  22. 22.

    Martins, C., Godycki-Cwirko, M., Heleno, B. & Brodersen, J. Eur. J. Gen. Pract. 24, 106–111 (2018).

    Article  Google Scholar 

  23. 23.

    Nowak, K. J., Bauskis, A., Dawkins, H. J. & Baynam, G. Eur. J. Hum. Genet. 26, 616–617 (2018).

    Article  Google Scholar 

  24. 24.

    Parker, M. & Kwiatkowski, D. P. Genome Biol. 17, 44 (2016).

    Article  Google Scholar 

Download references

Acknowledgements

We thank F. S. Alkuraya for valuable insights during the development of this manuscript and J. Groft for providing the protea flower pictures (Supplementary Note). We also thank the 11th International Conference on Rare Diseases and Orphan Drugs, without which the development of this manuscript would not have been possible.

G.S.B. is supported by the Angela Wright Bennett Foundation, McCusker Charitable Foundation and Roy Hill Community Foundation. J.K. is supported by H3ABioNet, which is funded by NIH Common Fund Award/NHGRI grant U41HG006941. J.K.V.R. is supported by IDFEC, the International Development Fund for Economy and Culture. C.N. is supported by MRC Fellowship MR/M014568/1.

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G.S.B., S.G., F.H.v.d.W., S.D.G., K.d.P., E.S., M. Selebasto, B.G., T.S., D.J., V.A.L., B.C.V., B.W., B.D., C.P.A., J.K., J.F., P.K., J.C., D.G., A.L., M. Stojiljkovic, A.N., E.J.A.R., D.T., D.W.-R., C.D.M.v.K. and M.P. conceived the paper concept. G.S.B., S.G., F.H.v.d.W., S.D.G., K.d.P., E.S., V.A.L., B.C.V., B.W., B.D., C.P.A., J.K., J.F., P.K., J.C., D.G., A.L., M. Stojiljkovic, A.N., E.J.A.R., D.T., D.W.-R., C.D.M.v.K., M.P., E.P.C., S.E., S. Bowdin, K.K., M.G., Z.S., R.M.-S., D.R.A., R.D.P., F.Z., N.P., M.M. and H.C. drafted the manuscript. G.S.B., S.G., F.H.v.d.W., S.D.G., C.P.A., J.K., D.G., A.L., M. Stojiljkovic, A.N., D.T., C.D.M.v.K., M.P., E.P.C., S.E., S. Bowdin, K.K., M.G., Z.S., R.M.-S., D.R.A., R.D.P., F.Z., N.P., M.M., H.C., M. Selebasto, B.G., T.S., D.J., K.N., G.A.B., J.K.V.R., S. Beltran, C.N., W.A.G., S. Broley, M. Schoonen, and K.M.B. edited the manuscript. All authors reviewed and approved the final manuscript version for submission.

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Correspondence to Francois H. van der Westhuizen.

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The authors declare the existence of a non-financial competing interest, acknowledging the involvement of select authors in the International Conference on Rare Diseases and Orphan Drugs, the International Rare Diseases Research Consortium (IRDiRC), the Undiagnosed Diseases Network International, Rare Diseases International and Rare Diseases South Africa.

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Baynam, G.S., Groft, S., van der Westhuizen, F.H. et al. A call for global action for rare diseases in Africa. Nat Genet 52, 21–26 (2020). https://doi.org/10.1038/s41588-019-0552-2

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