第2785期:The Life-saving Secrets In Your Baby(1)

So on April 22, 2015, a four-day-old baby girl in Boston, let's call her baby Maria, became the first healthy infant in human history to have her genome comprehensively sequenced, comprehensively analyzed, as part of a clinical controlled trial in preventive genomics.2015年4月22日，在波士顿，一名只有四天大的女婴——我们姑且称她为玛丽亚宝宝——成为人类历史上第一位健康婴儿，她的基因组在一项预防性基因组学的临床对照试验中被全面测序并进行全面分析。Now, why is this important? It's great to be first, but it's important because when children are ill, everybody's upset. But when children remain ill and doctors can't figure out what's going on, well, that casts their parents into a diagnostic odyssey that can take years and be incredibly agonizing. It can create all sorts of misunderstanding, misdiagnosis and mismanagement.那么，为什么这很重要呢？成为“第一”固然值得称道，但更重要的是，当孩子生病时，全家都会陷入焦虑。而当孩子长期患病而医生却无法找出病因时，父母就会踏上一段漫长而痛苦的“诊断奥德赛”，这种折磨可能持续多年。它会带来各种误解、误诊，甚至错误治疗。Now, sometimes those children will go on to get genetic testing, and sometimes they'll find an answer. And sometimes those answers mean that you can treat the child, but by then it can be too late. The damage is permanent. This is particularly tragic because there are so many treatable genetic conditions today, and they're going to be even more with gene editing, cell and gene therapies. In fact, it's been suggested that over 90 percent of genetic conditions will be treatable in the next few years with gene editing.有时候，这些孩子最终会接受基因检测，有时候能找到答案。而有时这些答案意味着孩子是可以治疗的，但等到那时，往往已经为时已晚，损害不可逆转。这尤其令人痛心，因为如今已有许多遗传性疾病是可治疗的，而随着基因编辑、细胞与基因疗法的发展，可治疗的遗传病将会更多。事实上，有人预测，在未来几年内，超过90%的遗传性疾病都将通过基因编辑得到治疗。So the key to this is obviously finding these children early, actually analyzing their DNA at or shortly after birth. And so ten years ago, I pulled together a team at Harvard Medical School, Mass General Brigham, Broad Institute, Ariadne Labs, and got together with a brilliant group of co-leaders: Alan Beggs, Amy McGuire, Heidi Rehm and Ingrid Holm. And together, we launched the BabySeq or Baby Sequencing Project, the world's first trial of newborn genomic sequencing.因此，关键显然在于尽早发现这些孩子，在出生时或出生后不久就对他们的DNA进行分析。于是十年前，我在哈佛医学院、麻省总医院、布罗德研究所和阿里阿德涅实验室组建了一支团队，并与一群杰出的共同领导者——艾伦·贝格斯、艾米·麦奎尔、海蒂·雷姆和英格丽德·霍尔姆——携手合作。我们共同启动了“婴儿基因组测序计划”（BabySeq Project），这是世界上第一个针对新生儿进行基因组测序的试验。Now, when we presented this information at medical meetings, we didn't quite get the reaction we were hoping for.然而，当我们在医学会议上展示这些成果时，却并没有得到我们所期望的反应。