Advancing diagnosis and research for rare genetic diseases in Indigenous peoples.

Autor: Baynam G; Rare Care Centre and Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Faculty of Health and Medicine, Division of Pediatrics, University of Western Australia, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Faculty of Medicine, University of Notre Dame, Fremantle, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Faculty of Science and Engineering, Spatial Sciences, Curtin University, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Faculty of Medicine, Notre Dame University, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia. gareth.baynam@health.wa.gov.au., Julkowska D; IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (Inserm), Paris, France., Bowdin S; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK., Hermes A; National Centre for Indigenous Genomics, Australian National University, Canberra, Australian Capital Territory, Australia., McMaster CR; Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia, Canada.; Institute of Genetics, Canadian Institutes of Health Research, Halifax, Nova Scotia, Canada., Prichep E; Platform on Shaping the Future of Health and Healthcare, World Economic Forum, New York, NY, USA., Richer É; Institute of Genetics, Canadian Institutes of Health Research, Halifax, Nova Scotia, Canada., van der Westhuizen FH; Human Metabolomics, North-West University, Potchefstroom, South Africa., Repetto GM; Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Malherbe H; Department of Biochemistry, Genetics and Microbiology, University of Pretoria, Pretoria, South Africa.; Rare Diseases South Africa, Johannesburg, South Africa., Reichardt JKV; Australian Institute of Tropical Health and Medicine, James Cook University, Smithfield, Queensland, Australia., Arbour L; Department of Medical Genetics, University of British Columbia, Victoria, British Columbia, Canada., Hudson M; Faculty of Maori and Indigenous Studies, University of Waikato, Hamilton, New Zealand., du Plessis K; Rare Diseases South Africa, Johannesburg, South Africa., Haendel M; Oregon Clinical and Translational Research Institute, Oregon Health and Science University, Portland, OR, USA., Wilcox P; Department of Mathematics and Statistics, University of Otago, Dunedin, New Zealand., Lynch SA; National Rare Disease Office, Mater Misericordiae University Hospital, Dublin, Ireland.; Academic Centre on Rare Diseases, University College Dublin, Dublin, Ireland., Rind S; Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia., Easteal S; National Centre for Indigenous Genomics, Australian National University, Canberra, Australian Capital Territory, Australia., Estivill X; Quantitative Genomics Medicine Laboratories (qgenomics), Esplugues de Llobregat, Barcelona, Spain., Caron N; UBC Centre for Excellence in Indigenous Health, Vancouver, British Columbia, Canada.; UBC Northern Medical Program and Department of Surgery, Prince George, British Columbia, Canada., Chongo M; UBC Centre for Excellence in Indigenous Health, Vancouver, British Columbia, Canada., Thomas Y; Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia., Letinturier MCV; IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (Inserm), Paris, France., Vorster BC; Centre for Human Metabolomics, North-West University, Capetown, South Africa.

Publikováno v: Nature genetics [Nat Genet] 2024 Feb; Vol. 56 (2), pp. 189-193.

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Rare diseases and space health: optimizing synergies from scientific questions to care.

Autor: Puscas M; Astronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of Canada, Longueil, Canada.; The School of Health Sciences, University of Western Ontario, London, Canada., Martineau G; Astronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of Canada, Longueil, Canada.; Hawaii Institute of Marine Biology (HIMB), Kaneohe, HI, USA., Bhella G; Astronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of Canada, Longueil, Canada.; University of Waterloo, Waterloo, Canada., Bonnen PE; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Carr P; The Strategic Review Group Inc., Ottawa, Canada., Lim R; Legislative and Regulatory Modernization, Health Canada, Ottawa, Canada., Mitchell J; Pediatric Endocrinology and Biochemical Genetics, Montreal Children's Hospital-McGill University, Human Genetics and Pediatrics, McGill University, Montreal, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Urquieta E; Translational Research Institute for Space Health (TRISH) and Department of Emergency Medicine and Center for Space Medicine, Baylor College of Medicine, Houston, TX, USA., Flamenbaum J; Canadian Institutes of Health Research Ethics Office, Ottawa, Canada., Iaria G; Department of Psychology, Hotchkiss Brain Institute, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada., Joly Y; Centre of Genomics and Policy, Faculty of Medicine, Human Genetics, McGill University, Montreal, Canada., Richer É; Canadian Institutes of Health Research Institute of Genetics, Ottawa, Canada., Saary J; Department of Medicine, Division of Occupational Medicine, University of Toronto, Toronto, Canada., Saint-Jacques D; Astronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of Canada, Longueil, Canada.; Astronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of Canada, Longueil, Canada., Buckley N; Astronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of Canada, Longueil, Canada. nicole.buckley@esa.int.; Directorate of Human Spaceflight and Robotic Exploration, European Space Agency, Noordwijk, Holland. nicole.buckley@esa.int., Low-Decarie E; Astronauts, Life Sciences and Space Medicine Canadian Space Agency, Government of Canada, Longueil, Canada. etienne.decarie@gmail.com.; Agriculture and Agri-Food Canada, Government of Canada, Montreal, Canada. etienne.decarie@gmail.com.

Publikováno v: NPJ microgravity [NPJ Microgravity] 2022 Dec 22; Vol. 8 (1), pp. 58. Date of Electronic Publication: 2022 Dec 22.

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