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 : 1117510
• 负责人: Prof Nigel Laing
• 金额: $ 57.23万
• 依托单位: The University of Western Australia
• 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
• 起止时间: 2017-01-01 至 2021-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/improving-outcomes-individuals-genetic-disease/946231
• 关键词: Improving; outcomes; individuals; families; affected

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.

我的目标是减少遗传性疾病造成的疾病和死亡，特别是未出生的儿童、新生儿和婴儿。我将通过寻找我们还不知道的遗传性疾病的原因，研究遗传性疾病的治疗方法，并开发更好的诊断遗传性疾病的方法来做到这一点。我还将研究在隐性疾病影响儿童之前发现其携带者的方法，以避免儿童受到严重疾病的影响。