Publication: Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
Date
2024
Journal Title
Journal ISSN
Volume Title
Publisher
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 Force to bridge the gap in diagnosing Indigenous rare diseases, and identify solutions to tackle the health inequity faced by Indigenous people.
Description
Keywords
Citation
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