Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

Gareth Baynam, Daria Julkowska,Sarah Bowdin,Azure Hermes,Christopher R. McMaster, Elissa Prichep,Étienne Richer,Francois H. van der Westhuizen,Gabriela M. Repetto,Helen Malherbe,Juergen K. V. Reichardt,Laura Arbour,Maui Hudson,Kelly du Plessis,Melissa Haendel,Phillip Wilcox,Sally Ann Lynch, Shamir Rind,Simon Easteal, Xavier Estivill,Nadine Caron,Meck Chongo,Yarlalu Thomas, Mary Catherine V. Letinturier,Barend Christiaan Vorster

Nature Genetics（2024）

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摘要

hieving 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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