A call for global action for rare diseases in Africa

Gareth S. Baynam; Stephen Groft; Francois H. van der Westhuizen; Safiyya D. Gassman; Kelly du Plessis; Emily P. Coles; Eda Selebatso; Moses Selebatso; Boikobo Gaobinelwe; Tebogo Selebatso; Dipesalema Joel; Virginia A. Llera; Barend C. Vorster; Barbara Wuebbels; Benjamin Djoudalbaye; Christopher P. Austin; Judit Kumuthini; John Forman; Petra Kaufmann; James Chipeta; Désirée Gavhed; Annika Larsson; Maja Stojiljkovic; Ann Nordgren; Emilio J.A. Roldan; Domenica Taruscio; Durhane Wong-Rieger; Kristen Nowak; Gemma A. Bilkey; Simon Easteal; Sarah Bowdin; Juergen K.V. Reichardt; Sergi Beltran; Kenjiro Kosaki; Clara D.M. van Karnebeek; Mengchun Gong; Zhang Shuyang; Ruty Mehrian-Shai; David R. Adams; Ratna D. Puri; Feng Zhang; Nicholas Pachter; Maximilian Muenke; Christoffer Nellaker; William A. Gahl; Helene Cederroth; Stephanie Broley; Maryke Schoonen; Kym M. Boycott; Manuel Posada

doi:10.1038/s41588-019-0552-2

A call for global action for rare diseases in Africa

Gareth S. Baynam, Stephen Groft, Francois H. van der Westhuizen, Safiyya D. Gassman, Kelly du Plessis, Emily P. Coles, Eda Selebatso, Moses Selebatso, Boikobo Gaobinelwe, Tebogo Selebatso, Dipesalema Joel, Virginia A. Llera, Barend C. Vorster, Barbara Wuebbels, Benjamin Djoudalbaye, Christopher P. Austin, Judit Kumuthini, John Forman, Petra Kaufmann, James ChipetaDésirée Gavhed, Annika Larsson, Maja Stojiljkovic, Ann Nordgren, Emilio J.A. Roldan, Domenica Taruscio, Durhane Wong-Rieger, Kristen Nowak, Gemma A. Bilkey, Simon Easteal, Sarah Bowdin, Juergen K.V. Reichardt, Sergi Beltran, Kenjiro Kosaki, Clara D.M. van Karnebeek, Mengchun Gong, Zhang Shuyang, Ruty Mehrian-Shai, David R. Adams, Ratna D. Puri, Feng Zhang, Nicholas Pachter, Maximilian Muenke, Christoffer Nellaker, William A. Gahl, Helene Cederroth, Stephanie Broley, Maryke Schoonen, Kym M. Boycott, Manuel Posada

医学部臨床遺伝学センター

研究成果: Comment/debate › 査読

23 被引用数 (Scopus)

本文言語	English
ページ（範囲）	21-26
ページ数	6
ジャーナル	Nature genetics
巻	52
号	1
DOI	https://doi.org/10.1038/s41588-019-0552-2
出版ステータス	Published - 2020 1月 1

ASJC Scopus subject areas

遺伝学

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10.1038/s41588-019-0552-2

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引用スタイル

Baynam, G. S., Groft, S., van der Westhuizen, F. H., Gassman, S. D., du Plessis, K., Coles, E. P., Selebatso, E., Selebatso, M., Gaobinelwe, B., Selebatso, T., Joel, D., Llera, V. A., Vorster, B. C., Wuebbels, B., Djoudalbaye, B., Austin, C. P., Kumuthini, J., Forman, J., Kaufmann, P., ... Posada, M. (2020). A call for global action for rare diseases in Africa. Nature genetics, 52(1), 21-26. https://doi.org/10.1038/s41588-019-0552-2

Baynam, GS, Groft, S, van der Westhuizen, FH, Gassman, SD, du Plessis, K, Coles, EP, Selebatso, E, Selebatso, M, Gaobinelwe, B, Selebatso, T, Joel, D, Llera, VA, Vorster, BC, Wuebbels, B, Djoudalbaye, B, Austin, CP, Kumuthini, J, Forman, J, Kaufmann, P, Chipeta, J, Gavhed, D, Larsson, A, Stojiljkovic, M, Nordgren, A, Roldan, EJA, Taruscio, D, Wong-Rieger, D, Nowak, K, Bilkey, GA, Easteal, S, Bowdin, S, Reichardt, JKV, Beltran, S, Kosaki, K, van Karnebeek, CDM, Gong, M, Shuyang, Z, Mehrian-Shai, R, Adams, DR, Puri, RD, Zhang, F, Pachter, N, Muenke, M, Nellaker, C, Gahl, WA, Cederroth, H, Broley, S, Schoonen, M, Boycott, KM & Posada, M 2020, 'A call for global action for rare diseases in Africa', Nature genetics, vol. 52, no. 1, pp. 21-26. https://doi.org/10.1038/s41588-019-0552-2

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title = "A call for global action for rare diseases in Africa",

author = "Baynam, {Gareth S.} and Stephen Groft and {van der Westhuizen}, {Francois H.} and Gassman, {Safiyya D.} and {du Plessis}, Kelly and Coles, {Emily P.} and Eda Selebatso and Moses Selebatso and Boikobo Gaobinelwe and Tebogo Selebatso and Dipesalema Joel and Llera, {Virginia A.} and Vorster, {Barend C.} and Barbara Wuebbels and Benjamin Djoudalbaye and Austin, {Christopher P.} and Judit Kumuthini and John Forman and Petra Kaufmann and James Chipeta and D{\'e}sir{\'e}e Gavhed and Annika Larsson and Maja Stojiljkovic and Ann Nordgren and Roldan, {Emilio J.A.} and Domenica Taruscio and Durhane Wong-Rieger and Kristen Nowak and Bilkey, {Gemma A.} and Simon Easteal and Sarah Bowdin and Reichardt, {Juergen K.V.} and Sergi Beltran and Kenjiro Kosaki and {van Karnebeek}, {Clara D.M.} and Mengchun Gong and Zhang Shuyang and Ruty Mehrian-Shai and Adams, {David R.} and Puri, {Ratna D.} and Feng Zhang and Nicholas Pachter and Maximilian Muenke and Christoffer Nellaker and Gahl, {William A.} and Helene Cederroth and Stephanie Broley and Maryke Schoonen and Boycott, {Kym M.} and Manuel Posada",

note = "Funding Information: 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. Funding Information: 1Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia. 2The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, Western Australia, Australia. 3School of Medicine, Division of Pediatrics; and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia. 4National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. 5Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa. 6Corporate Affairs Rare Disease, Pfizer USA, New York, NY, USA. 7Rare Diseases South Africa, Johannesburg, South Africa. 8Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia. 9Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana. 10Botswana University of Agriculture and Natural Resources, Gaborone, Botswana. 11Department of Pediatric and Adolescent Medicine, Faculty of Medicine, University of Botswana School of Medicine, Botswana-Baylor Children{\textquoteright}s Clinical Centre of Excellence and Princess Marina Hospital, Gaborone, Botswana. 12GEISER Foundation, Mendoza, Argentina. 13Laboratory for Inborn Errors of Metabolism (PLIEM), Center for Human Metabolomics (CHM) at the Potchefstroom Campus of the North-West University, Potchefstroom, South Africa. 14Professional Patient Advocates in the Life Sciences (PPALS), Danbury, CT, USA. 15Africa Centres for Disease Control and Prevention, African Union Commission, Addis Ababa, Ethiopia. 16Centre for Proteomic & Genomic Research, Observatory, Cape Town, South Africa. 17Unaffiliated rare-disease advocate, Wellington, New Zealand. 18AveXis, San Diego, CA, USA. 19University of Zambia School of Medicine, Department of Pediatrics and Child Health, University Teaching Hospitals—Lusaka Children Hospital, Lusaka, Zambia. 20Department of Women{\textquoteright}s and Children{\textquoteright}s Health, Childhood Cancer Research Unit, Karolinska Institutet, and Karolinska Center for Rare Diseases, Karolinska University Hospital, Stockholm, Sweden. 21Regional Cancer Center Uppsala {\"O}rebro, Uppsala, Sweden. 22Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, Belgrade, Serbia. 23Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. 24Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolina Institutet, Stockholm, Sweden. 25Innovation Division, GADOR SA, Buenos Aires, Argentina. 26National Centre for Rare Diseases, Istituto Superiore di Sanit{\`a}, Rome, Italy. 27Canadian Organization for Rare Disorders, Toronto, Ontario, Canada. 28Rare Diseases International, Geneva, Switzerland. 29Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia. 30John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia. 31Cambridge University Hospitals NHS Foundation Trust, Addenbrooke{\textquoteright}s Hospital, Cambridge, UK. 32Australian Institute of Tropical Health and Medicine (AITHM), James Cook University, Smithfield, Queensland, Australia. 33Centro Nacional de An{\'a}lisis Gen{\'o}mico, Centre for Genomic Regulation (CNAG-CRG), Barcelona Institute of Science and Technology, Barcelona, Spain. 34Universitat Pompeu Fabra (UPF), Barcelona, Spain. 35Center for Medical Genetics, Keio University, Tokyo, Japan. 36Departments of Pediatrics and Clinical Genetics, Emma Children{\textquoteright}s Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands. 37Department of Pediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands. 38National Rare Diseases Registry System of China (NRDRS), Beijing, China. 39Peking Union Medical College Hospital, Beijing, China. 40Pediatric Hemato-Oncology, Sheba Medical Center, Ramat Gan, Israel. 41Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA. 42Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India. 43SeekIn. Inc., Yantian, Shenzhen, Guangdong, China. 44School of Medicine, Division of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia. 45School of Medicine, Curtin University, Perth, Western Australia, Australia. 46Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA. 47Nuffield Department of Women{\textquoteright}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. 48National Human Genome Research Institute and NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA. 49Wilhelm Foundation, Sandbacken, Brottby, Sweden. 50Children{\textquoteright}s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada. 51Instituto de Investigaci{\'o}n en Enfermedades Raras & CIBERER, Instituto de Salud Carlos III, Madrid, Spain. *e-mail: Francois.vanderWesthuizen@nwu.ac.za",

year = "2020",

month = jan,

day = "1",

doi = "10.1038/s41588-019-0552-2",

language = "English",

volume = "52",

pages = "21--26",

journal = "Nature genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "1",

}

TY - JOUR

T1 - A call for global action for rare diseases in Africa

AU - Baynam, Gareth S.

AU - Groft, Stephen

AU - van der Westhuizen, Francois H.

AU - Gassman, Safiyya D.

AU - du Plessis, Kelly

AU - Coles, Emily P.

AU - Selebatso, Eda

AU - Selebatso, Moses

AU - Gaobinelwe, Boikobo

AU - Selebatso, Tebogo

AU - Joel, Dipesalema

AU - Llera, Virginia A.

AU - Vorster, Barend C.

AU - Wuebbels, Barbara

AU - Djoudalbaye, Benjamin

AU - Austin, Christopher P.

AU - Kumuthini, Judit

AU - Forman, John

AU - Kaufmann, Petra

AU - Chipeta, James

AU - Gavhed, Désirée

AU - Larsson, Annika

AU - Stojiljkovic, Maja

AU - Nordgren, Ann

AU - Roldan, Emilio J.A.

AU - Taruscio, Domenica

AU - Wong-Rieger, Durhane

AU - Nowak, Kristen

AU - Bilkey, Gemma A.

AU - Easteal, Simon

AU - Bowdin, Sarah

AU - Reichardt, Juergen K.V.

AU - Beltran, Sergi

AU - Kosaki, Kenjiro

AU - van Karnebeek, Clara D.M.

AU - Gong, Mengchun

AU - Shuyang, Zhang

AU - Mehrian-Shai, Ruty

AU - Adams, David R.

AU - Puri, Ratna D.

AU - Zhang, Feng

AU - Pachter, Nicholas

AU - Muenke, Maximilian

AU - Nellaker, Christoffer

AU - Gahl, William A.

AU - Cederroth, Helene

AU - Broley, Stephanie

AU - Schoonen, Maryke

AU - Boycott, Kym M.

AU - Posada, Manuel

N1 - Funding Information: 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. Funding Information: 1Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia. 2The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, Western Australia, Australia. 3School of Medicine, Division of Pediatrics; and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia. 4National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. 5Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa. 6Corporate Affairs Rare Disease, Pfizer USA, New York, NY, USA. 7Rare Diseases South Africa, Johannesburg, South Africa. 8Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia. 9Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana. 10Botswana University of Agriculture and Natural Resources, Gaborone, Botswana. 11Department 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. 12GEISER Foundation, Mendoza, Argentina. 13Laboratory for Inborn Errors of Metabolism (PLIEM), Center for Human Metabolomics (CHM) at the Potchefstroom Campus of the North-West University, Potchefstroom, South Africa. 14Professional Patient Advocates in the Life Sciences (PPALS), Danbury, CT, USA. 15Africa Centres for Disease Control and Prevention, African Union Commission, Addis Ababa, Ethiopia. 16Centre for Proteomic & Genomic Research, Observatory, Cape Town, South Africa. 17Unaffiliated rare-disease advocate, Wellington, New Zealand. 18AveXis, San Diego, CA, USA. 19University of Zambia School of Medicine, Department of Pediatrics and Child Health, University Teaching Hospitals—Lusaka Children Hospital, Lusaka, Zambia. 20Department of Women’s and Children’s Health, Childhood Cancer Research Unit, Karolinska Institutet, and Karolinska Center for Rare Diseases, Karolinska University Hospital, Stockholm, Sweden. 21Regional Cancer Center Uppsala Örebro, Uppsala, Sweden. 22Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, Belgrade, Serbia. 23Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. 24Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolina Institutet, Stockholm, Sweden. 25Innovation Division, GADOR SA, Buenos Aires, Argentina. 26National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy. 27Canadian Organization for Rare Disorders, Toronto, Ontario, Canada. 28Rare Diseases International, Geneva, Switzerland. 29Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia. 30John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia. 31Cambridge University Hospitals NHS Foundation Trust, Addenbrooke’s Hospital, Cambridge, UK. 32Australian Institute of Tropical Health and Medicine (AITHM), James Cook University, Smithfield, Queensland, Australia. 33Centro Nacional de Análisis Genómico, Centre for Genomic Regulation (CNAG-CRG), Barcelona Institute of Science and Technology, Barcelona, Spain. 34Universitat Pompeu Fabra (UPF), Barcelona, Spain. 35Center for Medical Genetics, Keio University, Tokyo, Japan. 36Departments of Pediatrics and Clinical Genetics, Emma Children’s Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands. 37Department of Pediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands. 38National Rare Diseases Registry System of China (NRDRS), Beijing, China. 39Peking Union Medical College Hospital, Beijing, China. 40Pediatric Hemato-Oncology, Sheba Medical Center, Ramat Gan, Israel. 41Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA. 42Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India. 43SeekIn. Inc., Yantian, Shenzhen, Guangdong, China. 44School of Medicine, Division of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia. 45School of Medicine, Curtin University, Perth, Western Australia, Australia. 46Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA. 47Nuffield 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. 48National Human Genome Research Institute and NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA. 49Wilhelm Foundation, Sandbacken, Brottby, Sweden. 50Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada. 51Instituto de Investigación en Enfermedades Raras & CIBERER, Instituto de Salud Carlos III, Madrid, Spain. *e-mail: Francois.vanderWesthuizen@nwu.ac.za

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JF - Nature genetics

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