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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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

共 50 条

[1] Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
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
Reichardt, Juergen K. V.
Arbour, Laura
Hudson, Maui
du Plessis, Kelly
Haendel, Melissa
Wilcox, Phillip
Lynch, Sally Ann
Rind, Shamir
Easteal, Simon
Estivill, Xavier
Caron, Nadine
Chongo, Meck
Thomas, Yarlalu
Letinturier, Mary Catherine V.
Vorster, Barend Christiaan
[J]. NATURE GENETICS, 2024, 56 (2) : 189 - 193
[2] Advancing diagnosis and research for rare genetic diseases in Indigenous
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
Reichardt, Juergen K. V.
Arbour, Laura
Hudson, Maui
du Plessis, Kelly
Haendel, Melissa
Wilcox, Phillip
Lynch, Sally Ann
Rind, Shamir
Easteal, Simon
Estivill, Xavier
Caron, Nadine
Chongo, Meck
Thomas, Yarlalu
Letinturier, Mary Catherine V.
Vorster, Barend Christiaan
[J]. NATURE GENETICS, 2024, 56 (02) : 189 - 193
[3] Collective Biopolitics The Rights of Indigenous Peoples in Genetic Research
Garba, Ibrahim
[J]. TECNOSCIENZA-ITALIAN JOURNAL OF SCIENCE & TECHNOLOGY STUDIES, 2018, 9 (02): : 181 - 196
[4] Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases
Filocamo, Mirella
Baldo, Chiara
Goldwurm, Stefano
Renieri, Alessandra
Angelini, Corrado
Moggio, Maurizio
Mora, Marina
Merla, Giuseppe
Politano, Luisa
Garavaglia, Barbara
Casareto, Lorena
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[J]. ORPHANET JOURNAL OF RARE DISEASES, 2013, 8
[5] Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases
Mirella Filocamo
Chiara Baldo
Stefano Goldwurm
Alessandra Renieri
Corrado Angelini
Maurizio Moggio
Marina Mora
Giuseppe Merla
Luisa Politano
Barbara Garavaglia
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Francesca Dagna Bricarelli
[J]. Orphanet Journal of Rare Diseases, 8
[6] Genetic Diagnosis of Rare Diseases: Past and Present
Ramos-Fuentes, Feliciano
Gonzalez-Meneses, Antonio
Ars, Elisabet
Hernandez-Jaras, Julio
[J]. ADVANCES IN THERAPY, 2020, 37 (SUPPL 2) : 29 - 37
[7] Genetic Diagnosis of Rare Diseases: Past and Present
Feliciano Ramos-Fuentes
Antonio González-Meneses
Elisabet Ars
Julio Hernández-Jaras
[J]. Advances in Therapy, 2020, 37 : 29 - 37
[8] The difficulties and importance of research in rare genetic diseases
Hunter, Michael
Johnson, Nicholas E.
[J]. MUSCLE & NERVE, 2018, 57 (04) : 520 - 521
[9] Advancing reconciliation in scholarship of occupational therapy and Indigenous Peoples' health
Restall, Gayle
Phenix, Angie
Valavaara, Kaarina
[J]. CANADIAN JOURNAL OF OCCUPATIONAL THERAPY-REVUE CANADIENNE D ERGOTHERAPIE, 2019, 86 (04): : 256 - 261
[10] Addressing challenges in the diagnosis and treatment of rare genetic diseases
Boycott, Kym M.
Ardigo, Diego
[J]. NATURE REVIEWS DRUG DISCOVERY, 2018, 17 (03) : 151 - 152

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