A call for global action for rare diseases in Africa

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.