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 R.
Prichep, Elissa
Richer, Etienne
Van der Westhuizen, Francois H.
Repetto, Gabriela M.
Malherbe, Helen L.

Journal Title

Journal ISSN

Volume Title

Publisher

Nature Research

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

Genetic services, Genetics research, Indigenous people, Healthcare, Rare diseases, Genetic diseases, SDG-03: Good health and well-being, Indigenous rare diseases, Health inequity, SDG-10: Reduced inequalities

Sustainable Development Goals

SDG-03:Good heatlh and well-being
SDG-10:Reduces inequalities

Citation

Baynam, G., Julkowska, D., Bowdin, S. et al. Advancing diagnosis and research for rare genetic diseases in Indigenous peoples. Nature Genetics 56, 189–193 (2024). https://doi.org/10.1038/s41588-023-01642-1.