Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

被引：0

作者：

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

机构：

[1] Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of Health

[2] University of Western Australia,Faculty of Health and Medicine, Division of Pediatrics

[3] University of Western Australia,Telethon Kids Institute

[4] University of Notre Dame,Faculty of Medicine

[5] Curtin University,Faculty of Science and Engineering, Spatial Sciences

[6] Notre Dame University,Faculty of Medicine

[7] University of Melbourne,School of Population and Global Health

[8] French National Institute of Health and Medical Research (Inserm),IRDiRC Scientific Secretariat

[9] Addenbrooke’s Hospital,Department of Clinical Genetics

[10] Australian National University,National Centre for Indigenous Genomics

[11] Dalhousie University,Department of Pharmacology

[12] Canadian Institutes of Health Research,Institute of Genetics

[13] World Economic Forum,Platform on Shaping the Future of Health and Healthcare

[14] North-West University,Human Metabolomics

[15] Clinica Alemana Universidad del Desarrollo,Facultad de Medicina, Center for Genetics and Genomics

[16] University of Pretoria,Department of Biochemistry, Genetics and Microbiology

[17] Rare Diseases South Africa,Australian Institute of Tropical Health and Medicine

[18] James Cook University,Department of Medical Genetics

[19] University of British Columbia,Faculty of Maori and Indigenous Studies

[20] University of Waikato,Oregon Clinical and Translational Research Institute

[21] Oregon Health and Science University,Department of Mathematics and Statistics

[22] University of Otago,National Rare Disease Office

[23] Mater Misericordiae University Hospital,Academic Centre on Rare Diseases

[24] University College Dublin,Centre for Human Metabolomics

[25] Western Australian Register of Developmental Anomalies,undefined

[26] Quantitative Genomics Medicine Laboratories (qgenomics),undefined

[27] Esplugues de Llobregat,undefined

[28] UBC Centre for Excellence in Indigenous Health,undefined

[29] UBC Northern Medical Program and Department of Surgery,undefined

[30] North-West University,undefined

来源：

Nature Genetics | 2024年 / 56卷

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中图分类号：

学科分类号：

摘要：

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.

引用

页码：189 / 193

页数：4

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