The genetic control of platelet production and function

血小板是在体内循环并形成血液凝块的微小细胞。人体在任何时候都有超过一万亿的细胞，它们每周都被驻留在骨髓中的造血细胞所取代。保持血小板正常数量的稳定是非常重要的，任何显著的下降都可能导致危及生命的出血。低血小板计数的临床名称是血小板减少症，这是一个非常常见的问题。它可以由基因突变、病毒感染或化疗等癌症治疗引起。提高血小板减少症患者血小板数量的唯一方法是输血，但输血有风险和潜在的副作用。虽然我们对身体如何产生血小板有了相当多的了解，但我们还没有足够的知识来开发新的治疗方法。我们的工作重点是鉴定控制这一过程的基因，从血小板减少的小鼠模型开始，基因组定位，基因分离，最后，在新鉴定的基因和血小板减少患者之间建立联系。它将使我们更好地了解血小板是如何产生的，人类疾病是如何出错的，以及如何开发新的治疗方法来治疗血小板。

Platelets are the tiny cells that circulate in the body and make blood clot. The human body has more than a trillion of them at any one time, and they are replaced every week by the blood producing cells that reside in the bone marrow. Keeping the normal number of platelets steady is incredibly important any significant drop can result in a life-threatening hemorrhage. The clinical name given to a low platelet count is thrombocytopenia, and it is a very common problem. It can be caused by genetic mutations, viral infections, or by cancer treatments like chemotherapy. The only way to raise platelet numbers in a person with thrombocytopenia is a blood transfusion, which carries with it risks and potential side effects. While we understand quite a lot about how the body produces platelets, we don t know anywhere enough to be able to develop new treatments. Our work is focused on the identification of the genes that control the process, beginning with mouse models of thrombocytopenia, genome mapping, gene isolation, and finally, making the links between the newly identified genes and patients with thrombocytopenia. It will give us a much better understanding of how platelets are produced, how things go wrong in human disease, and how new therapies might be developed to treat them.