A call for global action for rare diseases in Africa.,Nature Genetics

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A call for global action for rare diseases in Africa.
Nature Genetics ( IF 31.7 ) Pub Date : 2019-12-23 , DOI: 10.1038/s41588-019-0552-2
Gareth S Baynam _{1,

2,

3} , Stephen Groft ₄ , Francois H van der Westhuizen ₅ , Safiyya D Gassman ₆ , Kelly du Plessis ₇ , Emily P Coles ₈ , Eda Selebatso ₉ , Moses Selebatso ₉ , Boikobo Gaobinelwe ₉ , Tebogo Selebatso _{9,

10} , Dipesalema Joel ₁₁ , Virginia A Llera ₁₂ , Barend C Vorster ₁₃ , Barbara Wuebbels ₁₄ , Benjamin Djoudalbaye ₁₅ , Christopher P Austin ₄ , Judit Kumuthini ₁₆ , John Forman ₁₇ , Petra Kaufmann ₁₈ , James Chipeta ₁₉ , Désirée Gavhed ₂₀ , Annika Larsson ₂₁ , Maja Stojiljkovic ₂₂ , Ann Nordgren _{23,

24} , Emilio J A Roldan ₂₅ , Domenica Taruscio ₂₆ , Durhane Wong-Rieger _{27,

28} , Kristen Nowak ₈ , Gemma A Bilkey _{8,

29} , Simon Easteal ₃₀ , Sarah Bowdin ₃₁ , Juergen K V Reichardt ₃₂ , Sergi Beltran _{33,

34} , Kenjiro Kosaki ₃₅ , Clara D M van Karnebeek _{36,

37} , Mengchun Gong ₃₈ , Zhang Shuyang ₃₉ , Ruty Mehrian-Shai ₄₀ , David R Adams ₄₁ , Ratna D Puri ₄₂ , Feng Zhang ₄₃ , Nicholas Pachter _{1,

44,

45} , Maximilian Muenke ₄₆ , Christoffer Nellaker ₄₇ , William A Gahl ₄₈ , Helene Cederroth ₄₉ , Stephanie Broley ₁ , Maryke Schoonen ₅ , Kym M Boycott ₅₀ , Manuel Posada ₅₁

Affiliation

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

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.

中文翻译：

呼吁对非洲的罕见病采取全球行动。

在南非举行的第十一届国际罕见病和孤儿药物国际会议（ICORD）上，发起了“非洲—罕见病”倡议，并促进了多方利益相关者的参与，以应对非洲稀有疾病患者所面临的挑战和机遇。与国际罕见病研究协会合作制定的以下ICORD全球行动呼吁，综合了审议的结果，并强调了应对罕见病对公共卫生的全球影响所需的国际合作努力。

更新日期：2019-12-23

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