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Improving outcomes for individuals and families affected by genetic disease.

Improving outcomes for individuals and families affected by genetic disease.
改善受遗传病影响的个人和家庭的结果。
批准号:
nhmrc : GNT1117510
负责人:
Prof Nigel Laing
金额:
$83.88万
依托单位:
依托单位国家:
澳大利亚
项目类别:
Research Fellowships
财政年份:
2017
资助国家:
澳大利亚
项目状态:
已结题
起止时间:
2017-01-01 至 --

项目摘要

项目成果

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中文摘要
翻译
我的目标是减少遗传性疾病造成的疾病和死亡,特别是在未出生的儿童、新生儿和婴儿中。我将通过寻找我们尚不知道的遗传疾病的原因,研究遗传疾病的治疗方法以及开发更好的诊断遗传疾病的方法来实现这一目标。我还将研究在隐性疾病影响儿童之前发现隐性疾病携带者的方法,使他们的孩子避免患上严重疾病。
英文摘要
I aim to reduce illness and death caused by inherited diseases, particularly in unborn children, newborns and infants. I will do this by finding causes of inherited diseases we don’t yet know, investigating treatments for inherited diseases and developing better methods of diagnosing inherited diseases. I will also investigate methods of finding carriers of recessive diseases before they have affected children, so that they can avoid having children affected with severe diseases.
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Improving outcomes for individuals and families affected by genetic disease.
  • 批准号:
    nhmrc : 1117510
  • 项目类别:
    Research Fellowships
  • 资助金额:
    $57.23万
  • 财政年份:
    2017
  • 负责人:
    Prof Nigel Laing
  • 依托单位:
Neuromics: application of next generation sequencing to neurogenetic disorders in Australia.
  • 批准号:
    nhmrc : 1055295
  • 项目类别:
    Targeted Calls
  • 资助金额:
    $70.09万
  • 财政年份:
    2013
  • 负责人:
    Prof Nigel Laing
  • 依托单位:
Improving diagnosis of rare disorders
  • 批准号:
    nhmrc : GNT1055295
  • 项目类别:
    International Collaborations
  • 资助金额:
    $53.3万
  • 财政年份:
    2013
  • 负责人:
    Prof Nigel Laing
  • 依托单位:
Nigel G Laing, NH&MRC Principal Research Fellowship: neurogenetics – gene discovery, pathobiology, novel therapeutics, novel diagnostics and translation.
  • 批准号:
    nhmrc : 1002147
  • 项目类别:
    Research Fellowships
  • 资助金额:
    $58.71万
  • 财政年份:
    2011
  • 负责人:
    Prof Nigel Laing
  • 依托单位:
海外基金