Identifying the genetic and environmental causes of congenital malformation

确定先天性畸形的遗传和环境原因

• 批准号: nhmrc : 1135886
• 负责人: Prof Sally Dunwoodie
• 金额: $ 52.37万
• 依托单位: The University of New South Wales
• 依托单位国家: 澳大利亚
• 项目类别: Research Fellowships
• 财政年份: 2018
• 资助国家: 澳大利亚
• 起止时间: 2018-01-01 至 2022-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/identifying-genetic-environmental-congenital-malformation/1318303
• 关键词: Identifying; genetic; environmental; causes; congenital

Birth defects are common, devastating and costly to families and to society. The cause is unknown in 80% of cases. This research is helping families by finding the gene mutations that cause birth defects. Gene discoveries, in some cases, will highlight environmental factors that are important for normal embryo formation, such as oxygen levels and dietary components. By identifying gene and environmental factors associated with causing birth defects, we hope to ameliorate or prevent many cases.

出生缺陷很常见，对家庭和社会来说具有破坏性且代价高昂。 80% 的病例病因不明。这项研究通过寻找导致出生缺陷的基因突变来帮助家庭。在某些情况下，基因发现将突出对正常胚胎形成很重要的环境因素，例如氧气水平和饮食成分。通过识别与导致出生缺陷相关的基因和环境因素，我们希望改善或预防许多病例。