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.
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Acknowledgements
This manuscript was prepared by the authors in their personal capacity. The views and opinions expressed here are those of the authors and do not necessarily reflect the views, opinions, or position of their employers or organizations. The IRDiRC Indigenous Population Task Force was supported by the Scientific Secretariat of IRDiRC, funded by the European Union through the European Joint Programme on Rare Disease (EJP RD) under the European Union’s Horizon 2020 Research and Innovation Programme (grant agreement 825575). The Scientific Secretariat is hosted at the French National Institute of Health and Medical Research (INSERM) in Paris, France.
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G.B. proposed, developed, and chaired the related IRDiRC Task Force, wrote multiple sections of this article, and coordinated the writing and review of the manuscript. D.J., S.B., A.H., C.R.M., E.P., E.R., F.v.d.W., G.M.R., H.M., J.K.V.R, L.A., Ma.H., K.d.P., Me.H., P.W., S.L., S.R., S.E., X.E., N.C., M.C., Y.T. and B.C.V. participated in the related IRDiRC Task Force, co-conceived the framework of the paper and contributed to writing and review. J.K.V.R. contributed to the section on engagement and edited the entire manuscript. M.C.V.L. revised and edited the entire manuscript.
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Nature Genetics thanks Sara Hull, Krystal Tsosie and Ambroise Wonkam for their contribution to the peer review of this work.
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Baynam, G., Julkowska, D., Bowdin, S. et al. Advancing diagnosis and research for rare genetic diseases in Indigenous peoples. Nat Genet 56, 189–193 (2024). https://doi.org/10.1038/s41588-023-01642-1
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DOI: https://doi.org/10.1038/s41588-023-01642-1
