A call for global action for rare diseases in Africa

Gareth S Baynam^{1

2

3}, Stephen Groft⁴, Francois H van der Westhuizen⁵, Safiyya D Gassman⁶, Kelly du Plessis⁷, Emily P Coles⁸, Eda Selebatso⁹, Moses Selebatso⁹, Boikobo Gaobinelwe⁹, Tebogo Selebatso^{9

10}, Dipesalema Joel¹¹, Virginia A Llera¹², Barend C Vorster¹³, Barbara Wuebbels¹⁴, Benjamin Djoudalbaye¹⁵, Christopher P Austin⁴, Judit Kumuthini¹⁶, John Forman¹⁷, Petra Kaufmann¹⁸, James Chipeta¹⁹, Désirée Gavhed²⁰, Annika Larsson²¹, Maja Stojiljkovic²², Ann Nordgren^{23

24}, Emilio J A Roldan²⁵, Domenica Taruscio²⁶, Durhane Wong-Rieger^{27

28}, Kristen Nowak⁸, Gemma A Bilkey^{8

29}, Simon Easteal³⁰, Sarah Bowdin³¹, Juergen K V Reichardt³², Sergi Beltran^{33

34}, Kenjiro Kosaki³⁵, Clara D M van Karnebeek^{36

37}, Mengchun Gong³⁸, Zhang Shuyang³⁹, Ruty Mehrian-Shai⁴⁰, David R Adams⁴¹, Ratna D Puri⁴², Feng Zhang⁴³, Nicholas Pachter^{1

44

45}, Maximilian Muenke⁴⁶, Christoffer Nellaker⁴⁷, William A Gahl⁴⁸, Helene Cederroth⁴⁹, Stephanie Broley¹, Maryke Schoonen⁵⁰, Kym M Boycott⁵¹, Manuel Posada⁵²

Affiliations

¹ Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
² The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
³ School of Medicine, Division of Pediatrics; and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.
⁴ National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
⁵ Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa. Francois.vanderWesthuizen@nwu.ac.za.
⁶ Corporate Affairs Rare Disease, Pfizer USA, New York, NY, USA.
⁷ Rare Diseases South Africa, Johannesburg, South Africa.
⁸ Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
⁹ Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana.
¹⁰ Botswana University of Agriculture and Natural Resources, Gaborone, Botswana.
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.
¹² GEISER Foundation, Mendoza, Argentina.
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.
¹⁴ Professional Patient Advocates in the Life Sciences (PPALS), Danbury, CT, USA.
¹⁵ Africa Centres for Disease Control and Prevention, African Union Commission, Addis Ababa, Ethiopia.
¹⁶ Centre for Proteomic & Genomic Research, Observatory, Cape Town, South Africa.
¹⁷ Unaffiliated rare-disease advocate, Wellington, New Zealand.
¹⁸ AveXis, San Diego, CA, USA.
¹⁹ University of Zambia School of Medicine, Department of Pediatrics and Child Health, University Teaching Hospitals-Lusaka Children Hospital, Lusaka, Zambia.
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.
²¹ Regional Cancer Center Uppsala Örebro, Uppsala, Sweden.
²² Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, Belgrade, Serbia.
²³ Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
²⁴ Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolina Institutet, Stockholm, Sweden.
²⁵ Innovation Division, GADOR SA, Buenos Aires, Argentina.
²⁶ National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
²⁷ Canadian Organization for Rare Disorders, Toronto, Ontario, Canada.
²⁸ Rare Diseases International, Geneva, Switzerland.
²⁹ Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
³⁰ John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
³¹ Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK.
³² Australian Institute of Tropical Health and Medicine (AITHM), James Cook University, Smithfield, Queensland, Australia.
³³ Centro Nacional de Análisis Genómico, Centre for Genomic Regulation (CNAG-CRG), Barcelona Institute of Science and Technology, Barcelona, Spain.
³⁴ Universitat Pompeu Fabra (UPF), Barcelona, Spain.
³⁵ Center for Medical Genetics, Keio University, Tokyo, Japan.
³⁶ Departments of Pediatrics and Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands.
³⁷ Department of Pediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands.
³⁸ National Rare Diseases Registry System of China (NRDRS), Beijing, China.
³⁹ Peking Union Medical College Hospital, Beijing, China.
⁴⁰ Pediatric Hemato-Oncology, Sheba Medical Center, Ramat Gan, Israel.
⁴¹ Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
⁴² Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India.
⁴³ SeekIn. Inc., Yantian, Shenzhen, Guangdong, China.
⁴⁴ School of Medicine, Division of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia.
⁴⁵ School of Medicine, Curtin University, Perth, Western Australia, Australia.
⁴⁶ Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
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.
⁴⁸ National Human Genome Research Institute and NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
⁴⁹ Wilhelm Foundation, Sandbacken, Brottby, Sweden.
⁵⁰ Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa.
⁵¹ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
⁵² Instituto de Investigación en Enfermedades Raras & CIBERER, Instituto de Salud Carlos III, Madrid, Spain.

PMID: 31873296
DOI: 10.1038/s41588-019-0552-2

A call for global action for rare diseases in Africa

Gareth S Baynam et al. Nat Genet. 2020 Jan.

. 2020 Jan;52(1):21-26.

doi: 10.1038/s41588-019-0552-2.

Authors

Affiliations

¹ Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
² The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
³ School of Medicine, Division of Pediatrics; and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.
⁴ National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
⁵ Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa. Francois.vanderWesthuizen@nwu.ac.za.
⁶ Corporate Affairs Rare Disease, Pfizer USA, New York, NY, USA.
⁷ Rare Diseases South Africa, Johannesburg, South Africa.
⁸ Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
⁹ Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana.
¹⁰ Botswana University of Agriculture and Natural Resources, Gaborone, Botswana.
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.
¹² GEISER Foundation, Mendoza, Argentina.
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.
¹⁴ Professional Patient Advocates in the Life Sciences (PPALS), Danbury, CT, USA.
¹⁵ Africa Centres for Disease Control and Prevention, African Union Commission, Addis Ababa, Ethiopia.
¹⁶ Centre for Proteomic & Genomic Research, Observatory, Cape Town, South Africa.
¹⁷ Unaffiliated rare-disease advocate, Wellington, New Zealand.
¹⁸ AveXis, San Diego, CA, USA.
¹⁹ University of Zambia School of Medicine, Department of Pediatrics and Child Health, University Teaching Hospitals-Lusaka Children Hospital, Lusaka, Zambia.
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.
²¹ Regional Cancer Center Uppsala Örebro, Uppsala, Sweden.
²² Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, Belgrade, Serbia.
²³ Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
²⁴ Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolina Institutet, Stockholm, Sweden.
²⁵ Innovation Division, GADOR SA, Buenos Aires, Argentina.
²⁶ National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
²⁷ Canadian Organization for Rare Disorders, Toronto, Ontario, Canada.
²⁸ Rare Diseases International, Geneva, Switzerland.
²⁹ Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
³⁰ John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
³¹ Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK.
³² Australian Institute of Tropical Health and Medicine (AITHM), James Cook University, Smithfield, Queensland, Australia.
³³ Centro Nacional de Análisis Genómico, Centre for Genomic Regulation (CNAG-CRG), Barcelona Institute of Science and Technology, Barcelona, Spain.
³⁴ Universitat Pompeu Fabra (UPF), Barcelona, Spain.
³⁵ Center for Medical Genetics, Keio University, Tokyo, Japan.
³⁶ Departments of Pediatrics and Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands.
³⁷ Department of Pediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands.
³⁸ National Rare Diseases Registry System of China (NRDRS), Beijing, China.
³⁹ Peking Union Medical College Hospital, Beijing, China.
⁴⁰ Pediatric Hemato-Oncology, Sheba Medical Center, Ramat Gan, Israel.
⁴¹ Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
⁴² Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India.
⁴³ SeekIn. Inc., Yantian, Shenzhen, Guangdong, China.
⁴⁴ School of Medicine, Division of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia.
⁴⁵ School of Medicine, Curtin University, Perth, Western Australia, Australia.
⁴⁶ Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
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.
⁴⁸ National Human Genome Research Institute and NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
⁴⁹ Wilhelm Foundation, Sandbacken, Brottby, Sweden.
⁵⁰ Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa.
⁵¹ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
⁵² Instituto de Investigación en Enfermedades Raras & CIBERER, Instituto de Salud Carlos III, Madrid, Spain.

PMID: 31873296
DOI: 10.1038/s41588-019-0552-2

No abstract available

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References

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-St...
1. Valdez, R., Ouyang, L. & Bolen, J. Prev. Chronic Dis. 13, 150491 (2016). - DOI
1. Rare Diseases: Understanding This Public Health Priority (European Organisation for Rare Diseases, 2005); https://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf
1. 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/2013ReportStateofArtRDActivitie...
1. Schieppati, A., Henter, J. I., Daina, E. & Aperia, A. Lancet 371, 2039–2041 (2008). - DOI

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A call for global action for rare diseases in Africa

Affiliations

A call for global action for rare diseases in Africa

Authors

Affiliations

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Miscellaneous