基因编辑挽救生命
Patrick Doherty had always been very active.
帕特里克·多尔蒂一直很活跃。
He trekked the Himalayas and hiked trails in Spain.
他在曾经喜马拉雅山和西班牙的小径上徒步旅行。
But about a year and a half ago, he noticed pins and needles in his fingers and toes.
大概一年半以前，他开始感觉手指和脚趾有刺痛的感觉。
His feet got cold.
他感觉脚发凉。
And then he started getting out of breath any time he walked his dog up the hills of County Donegal in Ireland where he lives.
然后每当他在他所居住的爱尔兰多尼戈尔县的山上遛狗时，他都会开始感觉上气不接下气。
"I noticed on some of the larger hill climbs I was getting a bit breathless," says Doherty, 65.
“我发现在爬一些更高的山时，会喘不上气，”65岁的多尔蒂说道。
"So I realized something was wrong."
“所以我意识到身体出了问题。”
Doherty found out he had a rare, but devastating inherited disease — known as transthyretin amyloidosis — that had killed his father.
多尔蒂发现自己患上了一种罕见但致命的遗传性疾病——转体蛋白淀粉样变性——正是这种疾病夺去了父亲的生命。
A misshapen protein was building up in his body, destroying important tissues, such as nerves in his hands and feet and his heart.
一种畸形的蛋白质正在他的体内形成，破坏了一些重要的组织，比如他的手脚和心脏里的一些神经。
Doherty had watched others get crippled and die difficult deaths from amyloidosis.
多尔蒂曾目睹过其他人因淀粉样变性而致残，并艰难地死去。
"It's terrible prognosis," Doherty says.
“这真是一个可怕的预测，”多尔蒂说道。
"This is a condition that deteriorates very rapidly. It's just dreadful."
“这种病的病情来得很猛，是很可怕的。”
So Doherty was thrilled when he found out that doctors were testing a new way to try to treat amyloidosis.
所以当多尔蒂发现医生正在测试一种治疗淀粉样变的新方法时，他很激动。
The approach used a revolutionary gene-editing technique called CRISPR, which allows scientists to make very precise changes in DNA.
这种方法使用了一种名为CRISPR的革命性基因编辑技术，它可以让科学家对DNA进行非常精确的编辑。
"I thought: Fantastic. I jumped at the opportunity," Doherty says.
“我当时想，太棒了。听到这个机会简直高兴得跳起来，”多尔蒂说道。
On Saturday, researchers reported the first data indicating that the experimental treatment worked, causing levels of the destructive protein to plummet in Doherty's body and the bodies of five other patients treated with the approach.
上周六，研究人员报告了表明这种实验性治疗有效的首批数据，表明实验性的治疗方法是有效的，使多尔蒂和其他五名用这种方法治疗的患者体内的破坏性蛋白质水平急剧下降。
"I feel fantastic," Doherty says.
“我感觉太棒了，”多尔蒂说道。
"It's just phenomenal."
“感觉太惊喜了。”
The advance is being hailed not just for amyloidosis patients but also as a proof-of-concept that CRISPR could be used to treat many other, much more common diseases.
这项进展不仅为淀粉样变患者带来了欢呼，也被视为CRISPR可用于治疗许多其他更常见疾病的概念性证明。
It's a new way of using the innovative technology.
这些一种使用新方法的新治疗技术。
"This is a major milestone for patients," says Jennifer Doudna of the University of California, Berkeley, who shared a Nobel Prize for her work helping develop CRISPR.
加州大学伯克利分校的詹妮弗·杜德纳说:“这对患者来说是一个重要的里程碑。”杜德纳因帮助开发CRISPR而获得了诺贝尔奖。
"While these are early data, they show us that we can overcome one of the biggest challenges with applying CRISPR clinically so far, which is being able to deliver it systemically and get it to the right place," Doudna says.
杜德纳说:“虽然这些是早期数据，但它们向我们表明，我们可以克服迄今为止将CRISPR应用于临床的最大挑战之一，也就是能够系统地将其传送到正确的地方。”
CRISPR has already been shown to help patients suffering from the devastating blood disorders sickle cell disease and beta thalassemia.
CRISPR已经被证明可以帮助患有严重血液病、镰状细胞病和地中海贫血的患者。
And doctors are trying to use it to treat cancer and to restore vision to people blinded by a rare genetic disorder.
医生们正试图用它来治疗癌症和恢复因一种罕见的遗传疾病而失明的人的视力。
But those experiments involve taking cells out of the body, editing them in the lab, and infusing them back in or injecting CRISPR directly into cells that need fixing.
但这些实验需要将细胞从体内取出，在实验室中编辑它们，然后将它们重新注入或直接将CRISPR注入需要修复的细胞中。
The study Doherty volunteered for is the first in which doctors are simply infusing the gene-editor directly into patients and letting it find its own way to the right gene in the right cells.
多尔蒂自愿参与的这项研究是第一次医生将基因编辑器直接注入病人体内，让它自己在正确的细胞中找到正确的基因。
In this case, it's cells in the liver making the destructive protein.
在多尔蒂的情形中，是肝细胞在制造那些破坏性的蛋白质。
"This is the first example in which CRISPR-Cas9 is injected directly into the bloodstream — in other words systemic administration — where we use it as a way to reach a tissue that's far away from the site of injection and very specifically use it to edit disease-causing genes," says John Leonard, the CEO of Intellia Therapeutics, which is sponsoring the study.
这是CRISPR-Cas9被直接注射到血液中的第一个例子，换句话说就是进行了全身的注射，内部治疗公司的首席执行官约翰·伦纳德说，该公司为这项研究提供了赞助。
Doctors infused billions of microscopic structures known as nanoparticles carrying genetic instructions for the CRISPR gene-editor into four patients in London and two in New Zealand.
医生们向伦敦的4名患者和新西兰的2名患者注入了数十亿个被称为纳米颗粒的微观结构，这些结构携带着CRISPR基因编辑器的遗传指令。
The nanoparticles were absorbed by their livers, where they unleashed armies of CRISPR gene-editors.
纳米颗粒被几位患者的肝脏吸收，在那里释放出大批CRISPR基因编辑器。
The CRISPR editor honed in on the target gene in the liver and sliced it, disabling production of the destructive protein.
CRISPR编辑器对肝脏中的目标基因进行了打磨，并对其进行了切片，使这种破坏性蛋白质的生产失效。
Within weeks, the levels of protein causing the disease plummeted.
几周内，治疗就使得这种疾病的蛋白质水平急剧下降。
Researchers reported at the Peripheral Nerve Society Annual Meeting and in a paper published in The New England Journal of Medicine.
研究人员在周围神经学会年会上发表了报告，并在《新英格兰医学杂志》上发表了一篇论文。
"It really is exciting," says Dr. Julian Gillmore, who is leading the study at the University College London, Royal Free Hospital.
伦敦大学学院皇家自由医院领导这项研究的朱利安·吉尔摩博士说:“这真是令人兴奋。
"This has the potential to completely revolutionize the outcome for these patients who have lived with this disease in their family for many generations. It's decimated some families that I've been looking after. So this is amazing," Gillmore says.
“这有可能彻底改变这些家族中患有这种疾病的患者的结局。它曾经毁了我照顾的一些家庭。如今，这真是太棒了，”吉尔摩说。
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