Coordination of the Fanconi anemia pathway to maintain genome stability

范可尼贫血是一种遗传性疾病，平均在7岁时出现骨髓衰竭，是20岁左右死亡的主要原因。许多患者还会患上白血病，这是他们年轻时的另一个压倒性障碍。19种蛋白质中任何一种的不正确功能都可能导致范可尼贫血。我们将寻找一种药物，可以弥补其中一种蛋白质的缺失，使其他蛋白质发挥正确的功能，为治疗提供可能的线索。

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.