Publication: Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
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Authors
Baynam, Gareth
Julkowska, Daria
Bowdin, Sarah
Hermes, Azure
McMaster, Christopher
Prichep, Elissa
Richer, Étienne
Van der Westhuizen, Francois
Malherbe, Helen
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Abstract
Achieving a diagnosis for Indigenous people living with a rare, often genetic, disease is crucial for equitable healthcare. The International Rare Disease Research Consortium convened a global Task Fo...
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Baynam G, Julkowska D, Bowdin S, Hermes A, McMaster CR, Prichep E, Richer É, van der Westhuizen FH, Repetto GM, Malherbe H, Reichardt JKV, Arbour L, Hudson M, du Plessis K, Haendel M, Wilcox P, Lynch SA, Rind S, Easteal S, Estivill X, Caron N, Chongo M, Thomas Y, Letinturier MCV, Vorster BC. Advancing diagnosis and research for rare genetic diseases in Indigenous peoples. Nat Genet. 2024 Feb;56(2):189-193. doi: 10.1038/s41588-023-01642-1
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