The difficulties and importance of research in rare genetic diseases

被引:1
|
作者
Hunter, Michael [1 ]
Johnson, Nicholas E. [1 ]
机构
[1] Univ Utah, Dept Neurol, 175 North Med Dr, Salt Lake City, UT 84132 USA
基金
美国国家卫生研究院;
关键词
COST;
D O I
10.1002/mus.26043
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:520 / 521
页数:2
相关论文
共 50 条
  • [1] The Importance of Hematology Working Groups for Rare Genetic Diseases
    Elbagoury, Marwan
    Kashari, Ohoud F.
    [J]. BLOOD, 2020, 136
  • [2] The importance of international collaboration for rare diseases research: a European perspective
    D Julkowska
    C P Austin
    C M Cutillo
    D Gancberg
    C Hager
    J Halftermeyer
    A H Jonker
    L P L Lau
    I Norstedt
    A Rath
    R Schuster
    E Simelyte
    S van Weely
    [J]. Gene Therapy, 2017, 24 : 562 - 571
  • [3] The importance of international collaboration for rare diseases research: a European perspective
    Julkowska, D.
    Austin, C. P.
    Cutillo, C. M.
    Gancberg, D.
    Hager, C.
    Halftermeyer, J.
    Jonker, A. H.
    Lau, L. P. L.
    Norstedt, I.
    Rath, A.
    Schuster, R.
    Simelyte, E.
    van Weely, S.
    [J]. GENE THERAPY, 2017, 24 (09) : 562 - 571
  • [4] Clinical research challenges in rare genetic diseases in Brazil
    Giugliani, Luciana
    Vanzella, Claudia
    Zambrano, Marina Bauer
    Donis, Karina Carvalho
    Wendland Wallau, Thais Klassmann
    da Costa, Fernando Machado
    Giugliani, Roberto
    [J]. GENETICS AND MOLECULAR BIOLOGY, 2019, 42 (01) : 305 - 311
  • [5] 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
  • [6] The importance of rare diseases for psychiatry
    Lauterbach, Margo D.
    Schildkrout, Barbara
    Benjamin, Sheldon
    Gregory, Michael D.
    [J]. LANCET PSYCHIATRY, 2016, 3 (12): : 1098 - 1100
  • [7] 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
  • [8] An innovative portal for rare genetic diseases research: The semantic Diseasecard
    Lopes, Pedro
    Oliveira, Jose Luis
    [J]. JOURNAL OF BIOMEDICAL INFORMATICS, 2013, 46 (06) : 1108 - 1115
  • [9] Use of Zebrafish Models to Boost Research in Rare Genetic Diseases
    Crouzier, Lucie
    Richard, Elodie M.
    Sourbron, Jo
    Lagae, Lieven
    Maurice, Tangui
    Delprat, Benjamin
    [J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (24)
  • [10] 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