Editing beneficial single nucleotide polymorphisms into the genome: A new approach to genetic disease

将有益的单核苷酸多态性编辑到基因组中：遗传疾病的新方法

• 批准号: nhmrc : GNT1098391
• 负责人: Prof Merlin Crossley
• 金额: $ 64.7万
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2016
• 资助国家: 澳大利亚
• 起止时间: 2016-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/editing-beneficial-single-genetic-disease/1345987
• 关键词: Editing; beneficial; single; nucleotide; polymorphisms

β-thalassaemia and sickle cell anaemia are red blood cell diseases caused by deficiencies in adult β-globin, a component of oxygen-carrying haemoglobin. Interestingly there is a rare group of patients whose symptoms are reduced by naturally occurring mutations that upregulate another globin gene to compensate for defective β-globin. We are investigating how these beneficial mutations elevate globin levels with a view to engineering them into cells of affected patients to treat these disorders.

β-地中海贫血和镰状细胞性贫血是由成人β-珠蛋白缺乏引起的红细胞疾病，β-珠蛋白是携氧血红蛋白的一种成分，实际上，有一组罕见的患者的症状可以通过上调另一个珠蛋白基因的自然发生的突变而减轻。我们正在研究这些有益的突变如何提高珠蛋白水平，以便将它们工程化到受影响的患者细胞中以治疗这些疾病。