Advancing diagnosis and research for rare genetic diseases in Indigenous

被引：0

作者：

Baynam, Gareth ^{[1
,2
,3
,4
,5
,6
,7
]}

Julkowska, Daria ^{[8
]}

Bowdin, Sarah ^{[9
]}

Hermes, Azure ^{[10
]}

McMaster, Christopher R. ^{[11
,12
]}

Prichep, Elissa ^{[13
]}

Richer, Etienne ^{[11
]}

van der Westhuizen, Francois H. ^{[14
]}

Repetto, Gabriela M. ^{[15
]}

Malherbe, Helen ^{[16
,17
]}

Reichardt, Juergen K. V. ^{[18
]}

Arbour, Laura ^{[19
]}

Hudson, Maui ^{[20
]}

du Plessis, Kelly ^{[17
]}

Haendel, Melissa ^{[21
]}

Wilcox, Phillip ^{[22
]}

Lynch, Sally Ann ^{[23
,24
]}

Rind, Shamir ^{[25
]}

Easteal, Simon

Estivill, Xavier ^{[26
]}

Caron, Nadine ^{[27
,28
,29
]}

Chongo, Meck ^{[27
]}

Thomas, Yarlalu ^{[25
]}

Letinturier, Mary Catherine V. ^{[8
]}

Vorster, Barend Christiaan ^{[30
]}

机构：

[1] Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, Australia

[2] Univ Western Australia, Fac Hlth & Med, Div Pediat, Perth, WA, Australia

[3] Univ Western Australia, Telethon Kids Inst, Perth, WA, Australia

[4] Univ Notre Dame, Fac Med, Fremantle, WA, Australia

[5] Curtin Univ, Fac Sci & Engn, Spatial Sci, Perth, WA, Australia

[6] Notre Dame Univ, Fac Med, Perth, WA, Australia

[7] Univ Melbourne, Sch Populat & Global Hlth, Melbourne, Vic, Australia

[8] Inserm, IRDiRC Sci Secretariat, French Natl Inst Hlth & Med Res, Paris, France

[9] Addenbrookes Hosp, Dept Clin Genet, Cambridge, England

[10] Australian Natl Univ, Natl Ctr Indigenous Genom, Canberra, ACT, Australia

[11] Dalhousie Univ, Dept Pharmacol, Halifax, NS, Canada

[12] Canadian Inst Hlth Res, Inst Genet, Halifax, NS, Canada

[13] World Econ Forum, Platform Shaping Future Hlth & Healthcare, New York, NY USA

[14] Northwest Univ, Human Metabol, Potchefstroom, South Africa

[15] Univ Desarrollo, Ctr Genet & Genom, Fac Med, Clin Alemana, Santiago, Chile

[16] Univ Pretoria, Dept Biochem Genet & Microbiol, Pretoria, South Africa

[17] Rare Dis South Africa, Johannesburg, South Africa

[18] James Cook Univ, Australian Inst Trop Hlth & Med, Smithfield, RI, Australia

[19] Univ British Columbia, Dept Med Genet, Victoria, BC, Canada

[20] Univ Waikato, Fac Maori & Indigenous Studies, Hamilton, New Zealand

[21] Oregon Hlth & Sci Univ, Oregon Clin & Translat Res Inst, Portland, OR USA

[22] Univ Otago, Dept Math & Stat, Dunedin, New Zealand

[23] Mater Misericordiae Univ Hosp, Natl Rare Dis Off, Dublin, Ireland

[24] Univ Coll Dublin, Acad Ctr Rare Dis, Dublin, Ireland

[25] Western Australian Register Dev Anomalies, Perth, WA, Australia

[26] Quantitat Genom Med Labs qgen, Barcelona, Spain

[27] UBC Ctr Excellence Indigenous Hlth, Vancouver, BC, Canada

[28] Univ British Columbia, Northern Med Program, Prince George, BC, Canada

[29] Univ British Columbia, Dept Surg, Prince George, BC, Canada

[30] Northwest Univ, Ctr Human Metabol, Cape Town, South Africa

来源：

NATURE GENETICS | 2024年 / 56卷 / 02期

关键词：

DISORDERS; NEEDS;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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：5

共 50 条

[1] 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
[J]. Nature Genetics, 2024, 56 : 189 - 193
[2] Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
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Julkowska, Daria
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