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应对罕见病和孤儿病

斯坦福—罕见病往往被忽视,原因嘛,好吧,就是因为它们罕见。但是,从总量看,它们影响着为数巨大的人们。在美国,罕见病被定义为影响不到200,000人的疾病。但罕见病症有6,800多种,而从世界范围看,它们折磨着数以亿计的人。然而对这些疾病只有大约250种治疗方法可用。

之所以如此,原因之一是患者人数较少导致研究病例和测试药物变得十分困难。结果,医学界人士常常对这些疾病的症候和病例所知甚少。

今年早些时候,我参与了加利福尼亚州的一个罕见病日项目。项目的主题是收集了众多(70多种)因为某种遗传错误而导致的很难弄懂的疾病。这种遗传错误发生在蛋白质和脂类上化学添加糖成分的细胞结构上。

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