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A call for global action for rare diseases in Africa

Nature Genetics volume 52, pages 21–26 (2020)Cite this article

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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.

Rare diseases are increasingly being recognized within nations1 and globally as a public-health priority2,3. In the African context, the needs of people living with rare diseases must also be balanced with basic needs, such as nutrition and communicable-disease prevention. Although rare diseases individually have low prevalence, the estimated combined prevalence is 6–8% of the population3,4. Most rare diseases have genetic associations and are often severely debilitating, impairing physical and mental abilities and shortening life expectancy5. To address global rare-disease burden, jurisdictional initiatives must be coordinated with international research, development and collaboration across health systems to ensure that the benefits of these activities accrue to patients and families globally5. For understudied populations, such as those in Africa, there are also specific challenges in addressing rare diseases. Furthermore, genomic research in Africa is still coming to terms with ethical and other issues, such as genomics literacy6; good governance for genomics and biobanking; protection of patients, the public and data7; and, given these limitations, how to expand research and diagnostics within the current global collaborative paradigm.

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Fig. 1: Population genome data across Africa.

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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.

Author information

Authors and Affiliations

  1. Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia

    Gareth S. Baynam, Nicholas Pachter & Stephanie Broley

  2. The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, Western Australia, Australia

    Gareth S. Baynam

  3. School of Medicine, Division of Pediatrics; and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia

    Gareth S. Baynam

  4. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA

    Stephen Groft & Christopher P. Austin

  5. Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa

    Francois H. van der Westhuizen & Maryke Schoonen

  6. Corporate Affairs Rare Disease, Pfizer USA, New York, NY, USA

    Safiyya D. Gassman

  7. Rare Diseases South Africa, Johannesburg, South Africa

    Kelly du Plessis

  8. Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia

    Emily P. Coles, Kristen Nowak & Gemma A. Bilkey

  9. Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana

    Eda Selebatso, Moses Selebatso, Boikobo Gaobinelwe & Tebogo Selebatso

  10. Botswana University of Agriculture and Natural Resources, Gaborone, Botswana

    Tebogo Selebatso

  11. Department of Pediatric and Adolescent Medicine, Faculty of Medicine, University of Botswana School of Medicine, Botswana-Baylor Children’s Clinical Centre of Excellence and Princess Marina Hospital, Gaborone, Botswana

    Dipesalema Joel

  12. GEISER Foundation, Mendoza, Argentina

    Virginia A. Llera

  13. Laboratory for Inborn Errors of Metabolism (PLIEM), Center for Human Metabolomics (CHM) at the Potchefstroom Campus of the North-West University, Potchefstroom, South Africa

    Barend C. Vorster

  14. Professional Patient Advocates in the Life Sciences (PPALS), Danbury, CT, USA

    Barbara Wuebbels

  15. Africa Centres for Disease Control and Prevention, African Union Commission, Addis Ababa, Ethiopia

    Benjamin Djoudalbaye

  16. Centre for Proteomic & Genomic Research, Observatory, Cape Town, South Africa

    Judit Kumuthini

  17. Unaffiliated rare-disease advocate, Wellington, New Zealand

    John Forman

  18. AveXis, San Diego, CA, USA

    Petra Kaufmann

  19. University of Zambia School of Medicine, Department of Pediatrics and Child Health, University Teaching Hospitals—Lusaka Children Hospital, Lusaka, Zambia

    James Chipeta

  20. Department of Women’s and Children’s Health, Childhood Cancer Research Unit, Karolinska Institutet, and Karolinska Center for Rare Diseases, Karolinska University Hospital, Stockholm, Sweden

    Désirée Gavhed

  21. Regional Cancer Center Uppsala Örebro, Uppsala, Sweden

    Annika Larsson

  22. Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, Belgrade, Serbia

    Maja Stojiljkovic

  23. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden

    Ann Nordgren

  24. Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolina Institutet, Stockholm, Sweden

    Ann Nordgren

  25. Innovation Division, GADOR SA, Buenos Aires, Argentina

    Emilio J. A. Roldan

  26. National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy

    Domenica Taruscio

  27. Canadian Organization for Rare Disorders, Toronto, Ontario, Canada

    Durhane Wong-Rieger

  28. Rare Diseases International, Geneva, Switzerland

    Durhane Wong-Rieger

  29. Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia

    Gemma A. Bilkey

  30. John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia

    Simon Easteal

  31. Cambridge University Hospitals NHS Foundation Trust, Addenbrooke’s Hospital, Cambridge, UK

    Sarah Bowdin

  32. Australian Institute of Tropical Health and Medicine (AITHM), James Cook University, Smithfield, Queensland, Australia

    Juergen K. V. Reichardt

  33. Centro Nacional de Análisis Genómico, Centre for Genomic Regulation (CNAG-CRG), Barcelona Institute of Science and Technology, Barcelona, Spain

    Sergi Beltran

  34. Universitat Pompeu Fabra (UPF), Barcelona, Spain

    Sergi Beltran

  35. Center for Medical Genetics, Keio University, Tokyo, Japan

    Kenjiro Kosaki

  36. Departments of Pediatrics and Clinical Genetics, Emma Children’s Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands

    Clara D. M. van Karnebeek

  37. Department of Pediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands

    Clara D. M. van Karnebeek

  38. National Rare Diseases Registry System of China (NRDRS), Beijing, China

    Mengchun Gong

  39. Peking Union Medical College Hospital, Beijing, China

    Zhang Shuyang

  40. Pediatric Hemato-Oncology, Sheba Medical Center, Ramat Gan, Israel

    Ruty Mehrian-Shai

  41. Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA

    David R. Adams

  42. Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India

    Ratna D. Puri

  43. SeekIn. Inc., Yantian, Shenzhen, Guangdong, China

    Feng Zhang

  44. School of Medicine, Division of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia

    Nicholas Pachter

  45. School of Medicine, Curtin University, Perth, Western Australia, Australia

    Nicholas Pachter

  46. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA

    Maximilian Muenke

  47. Nuffield Department of Women’s and Reproductive Health, University of Oxford, and Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK

    Christoffer Nellaker

  48. National Human Genome Research Institute and NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA

    William A. Gahl

  49. Wilhelm Foundation, Sandbacken, Brottby, Sweden

    Helene Cederroth

  50. Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada

    Kym M. Boycott

  51. Instituto de Investigación en Enfermedades Raras & CIBERER, Instituto de Salud Carlos III, Madrid, Spain

    Manuel Posada

Authors
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Contributions

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.

Corresponding author

Correspondence to Francois H. van der Westhuizen.

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Competing interests

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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