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  1. -14 H

    第2788期:The Life-saving Secrets In Your Baby(4)

    But that system is overburdened, under-resourced, and since 2008, it's only added nine new conditions. And as we've just said, there are several hundred treatable genetic conditions today. It’s going to be very hard for them to keep up.但该体系人手不足、资源匮乏,自2008年以来仅新增了九种疾病。正如我们刚才所说,如今有数百种可治疗的遗传性疾病,单靠现有体系很难跟得上。 Why are people so resistant? Why aren't we demanding this? Well, part of the reason is human psychology, right? You bring home this perfect little baby, and you don't really want to look for something that might be wrong, even if, intellectually, you know it might be treatable. But we've got to get past that.人们为什么如此抗拒?为什么我们不去强烈要求普及这项技术?部分原因来自人类心理:把这个完美的小宝宝带回家后,你并不想去寻找可能存在的问题——即便从理智上你知道这些问题可能是可治疗的。但我们必须突破这种心理障碍。 The other reason is privacy concerns. And this is sort of ironic because privacy concerns are real. Your DNA is a biometric. It's kind of like a fingerprint. There's certainly some law enforcement considerations, but if somebody steals my genome, they really can't make much of it. Whereas if they steal my electronic footprint or your electronic footprint, there's a lot more harm that can be done.另一个原因是隐私担忧。这有点讽刺,但隐私担忧确实存在。你的DNA是一种生物识别信息,有点像指纹。确实存在执法方面的考虑,但如果有人窃取了我的基因组,实际上他们也很难利用它做太多事情;而如果窃取了我的电子足迹或你的电子足迹,就可能造成更多的伤害。 So I'm not saying we shouldn't be concerned about privacy. In fact, privacy is protected when you look for genomic information in a medical context, just like it's protected for your psychiatric history and your HIV status and so forth.我并不是说我们不该关心隐私问题。事实上,在医疗情境下查找基因组信息会受到隐私保护,就像精神病史、艾滋病感染状况等信息一样受保护。 It's also been confusing to have direct-to-consumer genetic testing. Now, these companies, for the most part, were very honest about what they offered, but they were not protected by these same legal protections as health care. And typical direct-to-consumer companies use a technology called genotyping. So they're looking for various markers in the genome, which is good for ancestry and traits, but not so good for mutations. For that, you really need the sequencing, every single letter of the DNA, and that's 5,000 times more granular.直接面向消费者的基因检测也令人困惑。这些公司在很大程度上对其提供的服务是坦诚的,但它们并不受与医疗保健相同的法律保护。典型的直接检测公司使用的是一种叫做基因分型(genotyping)的技术,因此它们寻找的是基因组中的各种标记,这对祖源和性状分析很有用,但对检测突变并不十分可靠。要检测突变,确实需要测序——也就是读取DNA的每一个碱基——这种方法的精细度高出约5000倍。

    2 min
  2. -1 J

    第2787期:The Life-saving Secrets In Your Baby(3)

    Let me let you hear from a couple of the BabySeq mothers who've gone through this and hear what they have to say about the findings in their own children.让我带你听听几位参与 BabySeq 项目的母亲们的心声,听听她们对于自己孩子检测结果的看法。Now, this was baby Adam, who had an elastin gene mutation which can be associated with a narrowed aorta.这是婴儿亚当,他有一个弹性蛋白基因突变,这种突变可能与主动脉狭窄有关。 Finding out that your newborn has a heart problem, of all things, is absolutely terrifying. But knowing that we could be proactive gave us some peace of mind that we were doing everything we could do instead of being surprised down the road.发现自己新生的孩子居然有心脏问题,这无疑是极其可怕的。但得知我们能够主动采取措施,这让我们心里多少有些安慰,因为我们已经尽力而为,而不是在未来突然遭遇意外打击。 And in fact, after this mutation was found, a scan found that this baby's aorta was already mildly narrowed, it can now be followed and treated if it gets worse.事实上,在发现这个突变后,扫描检查表明这个婴儿的主动脉已经出现轻度狭窄。如今可以进行随访监测,如果情况恶化,就能及时治疗。 Baby Cora, who's now almost nine years old, was found to have mutations suggestive of biotinidase deficiency, which is absolutely necessary for proper brain development. So she takes a simple dietary supplement every day that's kept her brain safe.科拉宝宝,如今已经快九岁了,她被发现携带提示生物素酶缺乏症的突变。这种酶对大脑正常发育至关重要。于是她每天服用一种简单的膳食补充剂,从而保护了她的大脑。 We give her a daily vitamin to treat her enzyme deficiency. We had to get creative at first, but now it's part of our routine. I'm just glad we discovered the conditions before there were any symptoms.我们每天给她服用维生素来治疗这种酶缺乏。一开始我们得想办法让她接受,但现在这已经成为生活的一部分。我很庆幸我们在症状出现之前就发现了这个问题。 And baby Jacob was one of four children who had mutations that created a predisposition for pediatric or adult onset cancers. Now, in his case, the gene was BRCA2 or “Broca” 2, and nobody in the family knew that it was present. When we found out, we traced it back to his mother, who was surprised but who could then take action.婴儿雅各布则是四个因基因突变而容易患儿科或成年期癌症的孩子之一。他的突变基因是 BRCA2(俗称“布罗卡2”),家里没人知道有这种基因存在。当我们发现后,追溯到他的母亲,她很惊讶,但随后能够采取应对措施。 It turns out that I ultimately was carrying a mutation. I had risk-reducing and ultimately life-saving surgery, and I believe it was the right decision so I could be present for my son.结果发现,我自己最终是这个基因突变的携带者。我接受了降低风险、最终挽救生命的手术。我相信这是一个正确的决定,因为这样我才能陪伴在儿子身边。 So how can we bring this to every family that wants this insight? Well, there is a newborn screening system around most of the world. It looks for, in the United States, up to 75 treatable conditions, mostly metabolic conditions.那么,我们该如何让每一个希望获得这种洞察的家庭都能受益呢?其实,在世界大多数国家和地区都有新生儿筛查系统。在美国,这种筛查可以检测多达75种可治疗的疾病,其中大多数是代谢性疾病。

    2 min
  3. -2 J

    第2786期:The Life-saving Secrets In Your Baby(2)

    People were aghast. They thought we were going to do terrible medical things to these children. They thought there was going to be catastrophic psychological distress, and they thought we were going to spend all sorts of money. So we've spent ten yearsexquisitely studying the medical, behavioral and economic impact of newborn genetic sequencing. And we don't have all the answers yet, but I have to tell you that what we've discovered so far is pretty reassuring.↳人们当时都很震惊。他们以为我们要对这些孩子进行可怕的医学实验;他们以为这会带来灾难性的心理创伤;他们还以为我们会花费大量的金钱。于是,我们花了十年时间,精细地研究新生儿基因测序在医学、行为和经济上的影响。虽然我们还没有得到全部的答案,但到目前为止的发现已经相当令人安心。 Now, what was really surprising about this was what we found in these normal babies. If you take, let's say, 400 genes which represent conditions that are treatable today, absolutely treatable, in about 1,000 families, we found mutations in those genes in about four percent of these babies. Four percent.真正让人惊讶的是,我们在这些健康的新生儿中发现了什么。假设我们取大约400个基因,这些基因代表了当今可以明确治疗的疾病,在大约1000个家庭的新生儿中,我们发现约4%的婴儿携带这些基因的突变。4%! And if you expanded that gene list to be, let's say, 5,000 genes long, and that includes conditions that aren't treatable yet, conditions that maybe attack you in adulthood, we found an incredible 12 percent of these babies were carrying such mutations.如果把这个基因列表扩展到大约5000个基因,其中包括目前尚不可治疗、可能在成年后才会发病的疾病,那么我们发现竟有高达12%的婴儿携带这类突变。 Now, remember, that doesn't mean that all of these children are going to get the disease. But it does mean that if you know the risk that the children have, then your pediatrician and your family can be on the lookout for vague symptoms that would otherwise be overlooked.当然,请记住,这并不意味着所有这些孩子都会得病。但这确实意味着,如果你知道孩子所具有的风险,那么儿科医生和家人就可以提前留意一些本来可能被忽视的模糊症状。 This isn't a small problem. If this holds, that means in the United States, there are over 400,000 babies a year that will carry these risk mutations, and worldwide, that's over 15 million babies a year that will carry these risk mutations. It's kind of ironic, isn't it, because these are individually rare diseases, many of them you won't even have heard of, but together they are a massive medical problem.这可不是一个小问题。如果这个比例成立,那就意味着在美国,每年会有超过40万名婴儿携带这些风险突变;而在全球范围内,每年会有超过1500万名婴儿携带这些风险突变。这有点讽刺,不是吗?因为这些疾病单独来看都很罕见,许多甚至你从未听说过,但加在一起,它们却构成了一个巨大的医学难题。

    2 min
  4. -3 J

    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。

    2 min
  5. -5 J

    第2783期:Britain celebrates 200-year anniversary of trains

    "The railway that got the world on track." On the 27 September 1825, crowds gathered in a small market town in north-east England to witness something that had not been seen before – a train carrying passengers for the first time. It had taken eight hours to travel 48km – around the speed of an average cyclist – but this steam locomotive was a pioneer in the development of modern railways and changed the world forever as rail spread across the globe.“使世界步入正轨的铁路”。 1825年9月27日,人群聚集在英格兰东北部的一个小市小镇,目睹了以前从未见过的东西 - 第一次载着乘客的火车。 在普通骑自行车的人的速度下,旅行48公里花了八个小时,但是这种蒸汽机车是现代铁路发展的先驱,随着铁路在全球范围内蔓延,世界永远改变了世界。 2025 marks 200 years of passenger trains, and the UK is celebrating this milestone with Railway 200 – a year-long programme of events. From guided walking tours along old, abandoned rail routes, to competitions and careers events. Railway 200 organisers have also designed a travelling exhibition on a special train that will criss-cross the UK for 12 months. Admission to the train is free and there are four carriages, each with a different theme. These include a carriage with hands-on, interactive activities which invite people to test their engineering skills. Emma Roberts, Railway 200 organiser, said it is an "unforgettable experience" for visitors.2025年是200年的旅客列车,英国正在用Railway 200(一年的活动计划)庆祝这一里程碑。 从沿着古老的,废弃的铁路路线进行导游的徒步旅行,到比赛和职业活动。 Railway 200组织者还设计了一场特殊火车的旅行展览,该展览将在英国纵横交错12个月。 火车的入场是免费的,有四辆马车,每辆都有不同的主题。 这些包括带有动手互动活动的马车,邀请人们测试他们的工程技能。 铁路200组织者艾玛·罗伯茨(Emma Roberts)表示,对于游客来说,这是一种“难忘的经历”。 Also celebrating this bicentennial is Tom Chesshyre, train enthusiast and author of 'Slow Trains Around Britain'. Among what attracts him to train travel is that you can see places off the beaten track out the train window, and you can relax and read a book without worrying about traffic jams. Tom's favourite slow train ride is from Inverness, in the middle of Scotland, to the most northerly station in the whole of the UK in Thurso through "a kind of desolate landscape". Tom says, "You feel like you're taking a train and disappearing from modern life, leaving it behind." The route Tom crowned 'most picturesque' was a short journey from St Erth in Cornwall to St Ives which travels along a clifftop with the beach down below.还庆祝这一双百年纪念的是汤姆·切斯海尔(Tom Chesshyre),他是火车爱好者,也是“英国慢火车”的作者。 在吸引他进行火车旅行的地方,您可以看到人迹罕至的轨道上的位置,您可以放松身心和阅读书,而不必担心交通拥堵。 汤姆最喜欢的慢速火车骑行是从因弗内斯,苏格兰中部,到瑟索全英国最北端的车站,通过“一种荒凉的景观”。 汤姆说:“您觉得自己正在乘火车,从现代生活中消失,将其抛在后面。” 汤姆(Tom)加冕的路线是从康沃尔(Cornwall)的圣埃斯(St Erth)到圣艾夫斯(St Ives)的一段短途旅行,沿着悬崖峭壁在悬崖上行进,海滩下方。 Train travel has come a long way since 1825. Today, trains are more efficient and better connected than ever. From the Eurostar, which connects London to mainland Europe through a tunnel under the English Channel, to high-speed routes in Japan and China, the world is on the move.自1825年以来,4火车旅行已经走了很长一段路。今天,火车比以往任何时候都更加高效,连接更好。 从将英国频道下的隧道连接到伦敦到欧洲大陆的欧洲之星,再到日本和中国的高速航线,世界正在发生。

    2 min
  6. -6 J

    第2782期:How to end factory farming(4)

    Take the chick killing. Innovators have developed in-ovo sexing technology that allows the egg industry to only hatch the female chicks. Thanks to that, Germany recently banned the killing of day-old chicks entirely, andFranceand Italy are largely doing so too.说到小鸡的屠杀,创新者已经研发出了“蛋内分性”技术,使得蛋类产业只孵化雌性小鸡。正因如此,德国最近全面禁止了对刚出生一天的小鸡的屠杀,法国和意大利也在大规模推行这一做法。 Other innovators are developing alternative proteins, made from plants, algae, even animal cells to meet the world's growing demand for animal protein without more factory farming.还有一些创新者正在研发替代蛋白质,来源包括植物、藻类,甚至是动物细胞,以满足全球对动物蛋白日益增长的需求,而无需更多的工厂化养殖。 And yet, for all this progress, the problem overall is still growing worse. More animals are suffering at human hands today than at any prior point in our history.然而,尽管已经有了这些进步,整体问题仍在恶化。如今,在人类手中受苦的动物数量,比历史上任何时期都要多。 We raise and kill 210 billion animals globally every year. Two hundred and ten billion. That's more than the number of humans who have ever lived on Earth.全球每年被饲养并屠杀的动物高达2100亿只。2100亿!这个数字甚至超过了人类在地球上有史以来的总人口数。 We are the only species to have ever inflicted so much suffering on so many other animals. But we are also the only species to have ever acted to protect other animals from cruelty. We are a species of animal lovers. It is core to our humanity.我们是唯一一个曾给如此多其他动物带来巨大苦难的物种。但我们也是唯一一个会采取行动保护动物免受残酷对待的物种。我们是爱动物的物种,这是人性的重要组成部分。 One day, humanity will end the worst abuses on factory farms. And when we do, our descendants will look back and ask what we did to help end them.↳总有一天,人类会终结工厂化养殖中最严重的虐待行为。而当那一刻到来时,我们的后代会回头问:我们曾做过什么来帮助结束它? So what can you do to help? You can advocate, donate, even devote your career to this cause. But if you do just one thing, I ask this. Talk about factory farming.那么,你能做些什么来帮助呢?你可以倡导、捐助,甚至把一生奉献给这一事业。但如果只能做一件事,我请求你——请谈论工厂化养殖。 Tell the corporations you buy from, the politicians you vote for that you expect them to adopt at least basic animal-welfare standards. Tell your friends and family what you've learned about factory farming.告诉你购买商品的企业、你投票支持的政客,你希望他们至少采用基本的动物福利标准。告诉你的朋友和家人你所了解到的关于工厂化养殖的真相。 Factory farming thrives in the dark, shielded by a cone of silence, ignored by our politicians, our media and society at large. Its victims are voiceless. They need your voice.工厂化养殖依靠黑暗而存在,被沉默的屏障保护着,被政客、媒体和整个社会忽视。它的受害者没有声音,他们需要你的声音。 I was thinking about this when I was back in New Zealand a few months ago with our three-year-old son, Willie, visiting my childhood farm. Willie's started asking what I do at work all day. He just doesn't understand strategic philanthropy to reform factory farming.几个月前,我带着三岁的儿子威利回到新西兰,参观我童年的农场时,我想到了这些。威利开始问我:你每天上班都在做什么?他根本无法理解“通过战略性慈善改革工厂化养殖”是什么意思。 No matter how many times I repeat it.无论我重复多少次,他都听不懂。 So I told him, I'm trying to make the world a little bit more like that farm. We can have that world. Humanity has already amassed unprecedented wealth and power. Soon, advances in AI will make us more powerful still.于是我告诉他:我正在努力让这个世界变得更像那片农场。我们完全可以拥有这样的世界。人类已经积累了前所未有的财富与力量,很快,人工智能的进步还会让我们更加强大。 And we will face a choice, a test of our humanity. Will we use that power to factory-farm ever more animals? Or will we use it to end this cruelty?而我们将面临一个选择——一场人性的考验。我们会用这种力量去工厂化养殖更多的动物?还是用它来终结这种残酷? Humans are animals too. What separates us from the pigs and the chickens is our ability to make moral progress. We should use it.人类也是动物。我们与猪和鸡的区别,在于我们有能力推动道德的进步。我们理应运用这种能力。

    3 min
  7. 19 SEPT.

    第2781期:How to end factory farming(3)

    And this. This is a trash can full of live baby chicks. I honestly didn't believe this one when I first heard about it. It just sounded like comic-book villain stuff. But it's real. The egg industry has no need for the seven billion male chicks born annually. So it kills them on their first day alive in this world, typically by throwing them in the trash or into a giant meat grinder.还有这个。这是一只装满活小鸡的垃圾桶。老实说,第一次听到这个时,我根本不相信,听起来就像漫画里反派的恶行。但这是真的。蛋类产业对每年出生的大约七十亿只雄性小鸡没有任何用途,因此它们在生命的第一天就被杀死,通常的做法是直接扔进垃圾桶,或丢进巨大的绞肉机。 I could go on, but don't worry, I won't. We're all done with the images.我可以继续讲下去,但别担心,我不会了。关于图片的部分到此为止。 I'm guessing you're not a fan of what you just saw. And you're not alone. Eighty-eight percent of Americans told a recent survey that they think gestation crates and battery cages are unacceptable. Try finding any other issue that 88 percent of Americans can agree on today.我想你对刚才看到的东西一定不喜欢。而你并不孤单。最近一项调查显示,88%的美国人认为妊娠栏和电池笼是不可接受的。如今,你几乎找不到另一个能让88%的美国人达成共识的问题。 It's not surprising, though. We as a society have already decided that animal cruelty is wrong. If you treated your dog the way that a factory farm treats their pigs, you'd be committingfelonyanimal cruelty in most US states.这并不令人意外。作为一个社会,我们早已认定虐待动物是错误的。如果你像工厂化养殖场对待猪那样对待自己的狗,在大多数美国州,你都会被判定为严重的虐待动物罪。 And this isn't just about the animals. Factory farms, which densely crowd together hundreds of thousands, even millions of near genetically identical, immune-compromised individuals, are the perfect breeding grounds for disease. They control these diseases with antibiotics. Tons of them. In fact, even as we face an antibiotic resistance crisis in humans, we are feeding far more antibiotics to farm animals than we use in all human medicine. But antibiotics can't stop viruses, which is why we have a bird-flu pandemic sweeping through America's factory farms right now.而且,这不仅仅关乎动物。工厂化养殖场把几十万、甚至上百万基因几乎相同、免疫力低下的个体挤在一起,这正是疾病的理想温床。它们用抗生素来控制疾病——大量的抗生素。事实上,即使人类正面临抗生素耐药性危机,我们给农场动物喂食的抗生素依然远远超过用于人类医疗的总量。但抗生素无法对抗病毒,这就是为什么如今美国的工厂化养殖场正在爆发禽流感大流行。 After I learned all this, I dedicated my life to ending the worst abuses on factory farms. And the good news is, I've seen more progress in the last decade than in all prior decades combined. On these three practices, we are close to a tipping point.在了解到这些之后,我将自己的一生都投入到终结工厂化养殖中最严重的虐待行为中。好消息是,过去十年里我看到的进展,比之前几十年的总和还要多。在这三种做法上,我们正接近一个转折点。 Take the gestation crates. Advocates have won bans on them in 11 US states, from California to Florida. The Brazilian pork industry, led by giants like JBS, is moving away from the crates entirely.以妊娠栏为例。倡导者已经在美国11个州推动禁用它们,从加州到佛罗里达都有。由JBS等巨头主导的巴西猪肉产业,也正在全面摆脱妊娠栏。 Take the battery cages. Advocates have won promises from the world's largest supermarket and fast food chains to stop sourcing eggs from caged hens. McDonald's is now 100 percent cage-free in its US and Canadian egg supply, and Costco is nearly there too.再说电池笼。倡导者成功让全球最大的超市和快餐连锁企业承诺,不再采购笼养鸡蛋。麦当劳目前在美国和加拿大的鸡蛋供应已完全实现非笼养,Costco也几乎达到了这一标准。 Forty-four percent of US hens are now out of cages, up from less than 10 percent a decade ago.如今,美国有44%的产蛋母鸡已经摆脱了笼养,而十年前,这个数字还不到10%。

    3 min

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