Coordination of the Fanconi anemia pathway to maintain genome stability

协调范可尼贫血途径以维持基因组稳定性

• 批准号: nhmrc : GNT1129757
• 负责人: Dr Wayne Crismani
• 金额: $ 47.01万
• 依托单位国家: 澳大利亚
• 项目类别: Career Development Fellowships
• 财政年份: 2017
• 资助国家: 澳大利亚
• 起止时间: 2017-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/coordination-fanconi-anemia-genome-stability/1347772
• 关键词: Coordination; Fanconi; anemia; pathway; maintain

Fanconi anaemia is a heritable disorder where bone marrow failure occurs on average at age seven and is the major cause of death at around age 20. Many patients also develop leukaemia, representing another overwhelming hurdle in their youth. The incorrect function of any one of 19 proteins can lead to Fanconi anaemia. We will search for a drug that can compensate for the absence of one of these proteins to allow correct function of the other proteins offering possible leads for treatment.

范可尼贫血是一种遗传性疾病，骨髓衰竭平均发生在7岁，是20岁左右死亡的主要原因。许多患者还患上白血病，这是他们年轻时的另一个巨大障碍。19种蛋白质中的任何一种功能不正确都可能导致范可尼贫血。我们将寻找一种药物，可以弥补这些蛋白质之一的缺失，使其他蛋白质的正确功能为治疗提供可能的线索。