生物医学的民主革命

西雅图—很快,我们就能以非常经济的方式获得人类基因序列并收集大量不同类型的健康数据作为标准医疗手段。已经有不少令人瞩目的例子表明,这些新的基因数据正在改变我们对疾病和诊断的看法。

比如比利(Beery)双胞胎。他们于1996年出生于加利福尼亚州圣迭戈,身患慢性呕吐、癫痫和肌无力。他们和他们的父母长期进行着没完没了的体检和测试。一开始,他们被诊断为脑瘫。接着又被诊断为张力肌障碍,一种罕见的神经疾病。但基于这些诊断的治疗并没有消除这两个孩子的症状。

沮丧的父母给双胞胎进行了基因排序。排序结果表明,他们的诊断有欠全面。先前被查出的张力肌障碍是由干扰了神经传导血清素的基因突变引起的。医生发现,双胞胎的张力肌障碍可以用已有的血清素替换疗法彻底治愈。

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