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A call for global action for rare diseases in Africa.
Baynam, Gareth S; Groft, Stephen; van der Westhuizen, Francois H; Gassman, Safiyya D; du Plessis, Kelly; Coles, Emily P; Selebatso, Eda; Selebatso, Moses; Gaobinelwe, Boikobo; Selebatso, Tebogo; Joel, Dipesalema; Llera, Virginia A; Vorster, Barend C; Wuebbels, Barbara; Djoudalbaye, Benjamin; Austin, Christopher P; Kumuthini, Judit; Forman, John; Kaufmann, Petra; Chipeta, James; Gavhed, Désirée; Larsson, Annika; Stojiljkovic, Maja; Nordgren, Ann; Roldan, Emilio J A; Taruscio, Domenica; Wong-Rieger, Durhane; Nowak, Kristen; Bilkey, Gemma A; Easteal, Simon; Bowdin, Sarah; Reichardt, Juergen K V; Beltran, Sergi; Kosaki, Kenjiro; van Karnebeek, Clara D M; Gong, Mengchun; Shuyang, Zhang; Mehrian-Shai, Ruty; Adams, David R; Puri, Ratna D; Zhang, Feng; Pachter, Nicholas; Muenke, Maximilian; Nellaker, Christoffer; Gahl, William A; Cederroth, Helene; Broley, Stephanie; Schoonen, Maryke; Boycott, Kym M; Posada, Manuel.
Affiliation
  • Baynam GS; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
  • Groft S; The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
  • van der Westhuizen FH; School of Medicine, Division of Pediatrics; and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.
  • Gassman SD; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • du Plessis K; Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa. Francois.vanderWesthuizen@nwu.ac.za.
  • Coles EP; Corporate Affairs Rare Disease, Pfizer USA, New York, NY, USA.
  • Selebatso E; Rare Diseases South Africa, Johannesburg, South Africa.
  • Selebatso M; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
  • Gaobinelwe B; Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana.
  • Selebatso T; Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana.
  • Joel D; Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana.
  • Llera VA; Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana.
  • Vorster BC; Botswana University of Agriculture and Natural Resources, Gaborone, Botswana.
  • Wuebbels B; 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.
  • Djoudalbaye B; GEISER Foundation, Mendoza, Argentina.
  • Austin CP; Laboratory for Inborn Errors of Metabolism (PLIEM), Center for Human Metabolomics (CHM) at the Potchefstroom Campus of the North-West University, Potchefstroom, South Africa.
  • Kumuthini J; Professional Patient Advocates in the Life Sciences (PPALS), Danbury, CT, USA.
  • Forman J; Africa Centres for Disease Control and Prevention, African Union Commission, Addis Ababa, Ethiopia.
  • Kaufmann P; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Chipeta J; Centre for Proteomic & Genomic Research, Observatory, Cape Town, South Africa.
  • Gavhed D; Unaffiliated rare-disease advocate, Wellington, New Zealand.
  • Larsson A; AveXis, San Diego, CA, USA.
  • Stojiljkovic M; University of Zambia School of Medicine, Department of Pediatrics and Child Health, University Teaching Hospitals-Lusaka Children Hospital, Lusaka, Zambia.
  • Nordgren A; 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.
  • Roldan EJA; Regional Cancer Center Uppsala Örebro, Uppsala, Sweden.
  • Taruscio D; Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, Belgrade, Serbia.
  • Wong-Rieger D; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Nowak K; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolina Institutet, Stockholm, Sweden.
  • Bilkey GA; Innovation Division, GADOR SA, Buenos Aires, Argentina.
  • Easteal S; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
  • Bowdin S; Canadian Organization for Rare Disorders, Toronto, Ontario, Canada.
  • Reichardt JKV; Rare Diseases International, Geneva, Switzerland.
  • Beltran S; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
  • Kosaki K; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
  • van Karnebeek CDM; Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
  • Gong M; John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
  • Shuyang Z; Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK.
  • Mehrian-Shai R; Australian Institute of Tropical Health and Medicine (AITHM), James Cook University, Smithfield, Queensland, Australia.
  • Adams DR; Centro Nacional de Análisis Genómico, Centre for Genomic Regulation (CNAG-CRG), Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Puri RD; Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Zhang F; Center for Medical Genetics, Keio University, Tokyo, Japan.
  • Pachter N; Departments of Pediatrics and Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands.
  • Muenke M; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Nellaker C; National Rare Diseases Registry System of China (NRDRS), Beijing, China.
  • Gahl WA; Peking Union Medical College Hospital, Beijing, China.
  • Cederroth H; Pediatric Hemato-Oncology, Sheba Medical Center, Ramat Gan, Israel.
  • Broley S; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
  • Schoonen M; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Boycott KM; SeekIn. Inc., Yantian, Shenzhen, Guangdong, China.
  • Posada M; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
Nat Genet ; 52(1): 21-26, 2020 01.
Article in En | MEDLINE | ID: mdl-31873296
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Global Health / Rare Diseases / Health Planning / Health Promotion / International Cooperation Limits: Humans Country/Region as subject: Africa Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Australia
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Global Health / Rare Diseases / Health Planning / Health Promotion / International Cooperation Limits: Humans Country/Region as subject: Africa Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Australia