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1、Sebastian Kraves|TEDBCG Paris The era of personal DNA testing is here 00:13 想象你是一个养猪户。 你住在一个菲律宾的小农场。 你的牲口是家庭唯一的收入来源 只要它们是健康的。 你知道任意一天， 你的猪都有可能感染流感， 猪流感。 住在狭小的 猪圈， 一只猪的咳嗽和喷嚏 很可能马上感染另一只猪， 直至感染你的整个猪圈。 如果是 一个十分严重的病毒， 你猪圈里的猪将迅速被传染， 无一幸免。 如果你叫来一个兽医， 他 会拜访你的农场 并且在猪的鼻腔和口腔内取样。 但之后他们会开车回到城里 在他们的实 验室里检测那些样品。 两
2、周后，你会收到检测结果。 而两周时间足以让疫情蔓延， 夺走 你的生计。 01:07 但现实并不一定会这么糟。 如今，农户们可以自己采集那些样本。 他们可以直接进入猪圈 中， 用一张小小的滤纸在猪的 鼻子和口腔中取样， 将这张滤纸放在一个小试管中， 和一 些化学物质混合起来，提取出 他们从猪的鼻子和口腔中 得到的遗传物质。 不用离开他们 的农场， 他们要做的只是将一滴遗传物质 放入一个比鞋盒还小的分析仪中， 设定程序分 析猪流感病毒的 DNA 或者 RNA， 只 1 个小时内便可以取回结果， 看到是否感染。 我并 非是在夸大其实， 因为如今我们生活在个体 DNA 技术的时代。 每个人都能检测我们
3、自己 的 DNA。 01:55 DNA是携带遗传指令最基本的分子，帮助建造了生机勃勃的世界。人类有DNA。猪有DNA。 甚至细菌和一些病毒都有 DNA。编码在 DNA 中的遗传指令 告诉我们的身体如何发育，成 长，和发挥机能。 而且在很多情况下， 同样的信息还能引发疾病。 你的遗传信息 串成了 一段长而扭曲的分子， 即 DNA 双螺旋结构， 它有着超过三十亿个碱基， 从开始到结束。 但是携带有意义的信息的那几行 通常却很短 只有几十到几千个字母那么长。 所以当 我们在寻找 基于 DNA 问题的答案时， 我们实际上并不需要去读完 所有的那三十亿个字。 这会像在晚上觉得很饿， 然后不得不翻阅整个电
4、话簿， 从头到尾， 一行不落， 只是为了 找到最近的披萨店。 02:53 （笑声） 02:54 幸运的是，三十年前， 人类开始发明工具 使我们能找到任何一种 特定的遗传信息。 这些 DNA 检测器非常棒。 它们能查找出 DNA 中任何一行的信息。 但虽然它们找到了它， DNA 仍然很小， 而且周围那么多其他的 DNA， 那么这些机器接下来做的 便是复制目标基因， 复制一份又一份， 成千上万次, 直到那个与众不同的基因出现； 直到我们能看见它， 解 释它，读懂它，理解它， 直到我们能回答： 我的猪得了流感吗？ 或者其他埋藏在我们自 己 DNA 中的问题： 我有患癌症的风险吗？ 我有爱尔兰血统吗?
5、 那孩子是我亲生的吗？ 03:47 （笑声） 03:50 DNA 的这种复制能力 听起来很简单， 却改变了我们的世界。 科学家们每天都用它来检测 和对付疾病， 创造新药品, 改进食品， 评估我们的食物是否安全， 又或者是否被致命的 细菌污染。 甚至法官在法庭上也使用 这些机器输出的结果 在 DNA 证据的基础上 来判定 某人是无辜或有罪。 DNA 复制技术的发明者 在 1993 年被授予诺贝尔化学奖。 但过了 30 年，遗传分析的力量一直局限于象牙塔，或是有重大影响力的 博士科学家的工作之中。世 界各地的数家公司 正在把同样的技术简易化， 方便人们在日常生活中使用， 例如养猪农 户, 以及我们
6、大家。 04:44 我与其他人共同成立了 其中一家这样的公司。 在 3 年前， 和我的一位生物学家朋友 Zeke Alvarez Saavedra 一起, 我们决定让个人化 DNA 检测器 能被每个人所使用。 我们的目标是 在新的地方 将 DNA 科学带给更多的人。我们在地下室开始工作。我们有一个简单的问题： 如果每个人都能分析 DNA， 世界可能是什么样子的呢？ 我们很好奇， 就像你们好奇我如 果在 1980 年向你们展示这张照片。 05:17 （笑声） 05:18 你一定会想：“哇喔！ 我现在可以在车里 打电话给我姨妈 Glenda 祝她生日快乐了。 我 现在能给任何人在任何时间打电话了。
7、 这就是未来！” 你还并不知道， 你会拨通电话来 预订晚餐， 让你和 Glenda 姨妈一起庆祝。 拨打另一通电话，你将订好她的礼物。 而且每 多一次拨号， 你将会被 Glenda 姨妈 在 Facebook 上“点赞”。 而你可以坐在马桶上 做完 这所有的事。 05:45 （笑声） 05:47 新技术将把我们带往何处，谁都说不准。 对如今的个人 DNA 技术来说 情况也是一样。 05:57 举个例子，我从来没想过 一个种松露的农民， 怎么会需要用到个人 DNA 检测设备。 Paul Thomas 博士以种植松露为生。 我们可以看见，在这张照片里， 他在他的一个农场里， 手 里拿着第一个尿激酶
8、培养的松露。 松露如此美味 源于一种在活的树根生长的真菌。 这是 一种罕见的真菌。 一些种类每公斤能卖到 $3000，$7000，甚至更多。 我从保罗那了解到 种松露的农民的收益可以很高。 当保罗获得生长在他的农场的新松露时， 他被置于仿冒品 的威胁之中 这种松露的外观和感觉很像真的， 但是它们的质量很差。 不过即使有一 双像保罗那样 训练有素的眼睛， 在显微镜下观察, 这些松露都可以通过真品的检测。 为 了种植最高质量的松露， 那些世界各地的大厨 所竞相争夺的松露， 保罗必须使用 DNA 分 析。 这难道不令人大开眼界吗? 我敢打赌你以后看着 黑松露意大利调味饭， 都不得不想 到它的基因。
9、07:09 （笑声） 07:11 但个人 DNA 检测器 还可以挽救人类的生命。 Ian Goodfellow 教授是 剑桥大学的病毒学家。 去年他去了塞拉利昂。 当埃博拉疫情在非洲西部爆发， 他即刻意识到那里的医生 缺乏基 础的工具 去检测疾病并与之搏斗。 结果最迟需要一周才能出来 这对于遭受痛苦的病人 和家属来说太久了。 Ian 决定将他的实验室 搬去马可尼，塞拉利昂。 在这里，我们可以看 到 Ian Goodfellow 正在把一个超过 10 吨的设备 搬入一个弹出式帐篷， 这是他准备来检测 和诊断病毒， 在 24 小时内确定病毒的 基因序列的地方。 但令人意想不到的是： Ian 在英
10、国实验室用来 确定和诊断埃博拉病毒 基因序列的相同设备， 在当前的条件下是根本无法 使用的。 我指的是当地 35 摄氏度的高温 和超过 90%的湿度。 但现在，伊恩可以使用 个 人 DNA 检测器， 它们小到可以被放置 在空调装置的前面， 来进行病毒测序 和拯救生命。 08:25 这可能看起来像在 在一个极端的地方进行 DNA 分析， 但是让我们看看一个更 更极端的环 境： 外太空。 让我们来谈谈在太空中进行 DNA 分析。 当宇航员生活在国际空间站中， 是 绕着距地球 400 公里高的轨道移动。 他们以每小时 2 万 7 千多 公里的时速绕行。 想象一 下吧 每天会看到 15 次日落和日出。
11、 人也在微重力中 漂浮着。 在这些条件下， 我们 的身体机能会失常。 其一便是我们的免疫系统会被抑制， 让宇航员更容易感染疾病。 09:07 一个 16 岁的女孩， 一个来自纽约的高中生， Anna-Sophia Boguraev， 想知道宇航员的 DNA 变化 是否可能与免疫抑制相关， 通过一个被称为“太空基因”的科学比赛， 为了测试这 个假说， Anna-Sophia 设计了一个实验， 在国际空间站上使用了个人 DNA 检测器。 这里， 我们看到的是 Anna-Sophia 2016 年 4 月 8 日在卡纳维拉尔角，看着她的实验装置发射 到国 际空间站。 那团烟是火箭 带着 Anna-S
12、ophia 的 实验设备去国际空间站， 三天后， 宇航 员蒂姆皮克进行了她的实验 在微重力环境中。 个人 DNA 检测器现在 在国际空间站 上服役， 在那里它们可以 帮助监测宇航员的身体机能， 并保护宇航员的生命。 10:05 一个 16 岁的孩子设计了 DNA 检测实验， 为了保护宇航员的生命， 看起来非常罕见， 天 才儿童的标志。 而对我来说， 它标志着更重要的事： DNA 技术终于距离 你们每一个人 都不远了。 10:25 几年前， 一个大学生配备上一台个人电脑 就能写出一个应用程序， 现在这是一个社交网 络的应用程序， 有超过十亿的用户。 我们可以进入一个 每个家庭都配备一台 个人 D
13、NA 检测器的世界吗? 10:42 我知道这在有些家庭中 已经实现了。 例如丹尼尔斯一家， 在芝加哥郊区的家庭地下室 建 立了一个 DNA 实验室。 这不是一个由博士科学家 组成的家庭。 这只是一个再普通不过的 家庭。 他们只是喜欢花时间在一起 做有趣的，有创造性的事情。 白天，布莱恩是 私人股 票基金公司的一个经理。 晚上和周末， 他和 7 岁和 9 岁的孩子一起， 进行他们的 DNA 实 验， 把这视为一种探索世界的方式。 上次我打电话给他们的时候， 他们检查了后院花园 里 自家种植的农产品。他们测试了采摘的西红柿，提取它们表皮上的果肉，放进试管中， 用化学药剂混合提取 DNA， 然后使用
14、他们自家的 DNA 复印机 来测试那些西红柿的转基因 性状。 11:36 对于丹尼尔斯一家来说， 个人 DNA 检测器 就像针对 21 世纪设计的 化学实验。 我们大多 数人可能还没有 在自家厨房的水槽中 做过任何基因检测， 或者家庭亲子鉴定测试。 11:51 （笑声） 11:52 但是我们绝对达到了 历史上的一个节点， 每个人都能在厨房亲自进行 DNA 检测试验。 你 能复制，粘贴和分析 DNA， 从中提取有用的信息。 在这种情况下，这种深刻的转变 一定 会发生； 当改变发生时, 那些在之前仅限于 少数象牙塔中的强大技术， 最终能够让我们 每一个人 接触和使用到，从农民到学生。想想那一刻 当
15、手机不再需要插线进行充电，又 或者当电脑脱离了大型计算机构架， 进入你的家里或者办公室中。 12:37 个人 DNA 革命的涟漪 可能很难预测， 但有一件事是可以确定的： 革命不会倒退， DNA 技术已经蔓延得 比我们的想象更快。 12:50 所以，如果你很好奇， 去近距离探索个人化 DNA 吧 就从今天开始。 因为好奇就存在 于我们基因中。 12:58 （笑声） 12:59 谢谢大家。 13:00 （掌声） 00:13 Imagine that youre a pig farmer. You live on a small farm in the Philippines. Your anim
16、als are your familys sole source of income - as long as theyre healthy. You know that any day, one of your pigs can catch the flu, the swine flu. Living in tight quarters, one pig coughing and sneezing may soon lead to the next pig coughing and sneezing, until an outbreak of swine flu has taken over
17、 your farm. If its a bad enough virus, the health of your herd may be gone in the blink of an eye. If you called in a veterinarian, he or she would visit your farm and take samples from your pigs noses and mouths. But then they would have to drive back into the city to test those samples in their ce
18、ntral lab. Two weeks later, youd hear back the results. Two weeks may be just enough time for infection to spread and take away your way of life. 01:07 But it doesnt have to be that way. Today, farmers can take those samples themselves. They can jump right into the pen and swab their pigs noses and
19、mouths with a little filter paper, place that little filter paper in a tiny tube, and mix it with some chemicals that will extract genetic material from their pigs noses and mouths. And without leaving their farms, they take a drop of that genetic material and put it into a little analyzer smaller t
20、han a shoebox, program it to detect DNA or RNA from the swine flu virus, and within one hour get back the results, visualize the results. This reality is possible because today were living in the era of personal DNA technology. Every one of us can actually test DNA ourselves. 01:55 DNA is the fundam
21、ental molecule the carries genetic instructions that help build the living world. Humans have DNA. Pigs have DNA. Even bacteria and some viruses have DNA too. The genetic instructions encoded in DNA inform how our bodies develop, grow, function. And in many cases, that same information can trigger d
22、isease. Your genetic information is strung into a long and twisted molecule, the DNA double helix, that has over three billion letters, beginning to end. But the lines that carry meaningful information are usually very short - a few dozen to several thousand letters long. So when were looking to ans
23、wer a question based on DNA, we actually dont need to read all those three billion letters, typically. That would be like getting hungry at night and having to flip through the whole phone book from cover to cover, pausing at every line, just to find the nearest pizza joint. 02:53 (Laughter) 02:54 L
24、uckily, three decades ago, humans started to invent tools that can find any specific line of genetic information. These DNA machines are wonderful. They can find any line in DNA. But once they find it, that DNA is still tiny, and surrounded by so much other DNA, that what these machines then do is c
25、opy the target gene, and one copy piles on top of another, millions and millions and millions of copies, until that gene stands out against the rest; until we can visualize it, interpret it, read it, understand it, until we can answer: Does my pig have the flu? Or other questions buried in our own D
26、NA: Am I at risk of cancer? Am I of Irish descent? Is that child my son? 03:47 (Laughter) 03:50 This ability to make copies of DNA, as simple as it sounds, has transformed our world. Scientists use it every day to detect and address disease, to create innovative medicines, to modify foods, to assess
27、 whether our food is safe to eat or whether its contaminated with deadly bacteria. Even judges use the output of these machines in court to decide whether someone is innocent or guilty based on DNA evidence. The inventor of this DNA-copying technique was awarded the Nobel Prize in Chemistry in 1993.
28、 But for 30 years, the power of genetic analysis has been confined to the ivory tower, or bigwig PhD scientist work. Well, several companies around the world are working on making this same technology accessible to everyday people like the pig farmer, like you. 04:44 I cofounded one of these compani
29、es. Three years ago, together with a fellow biologist and friend of mine, Zeke Alvarez Saavedra, we decided to make personal DNA machines that anyone could use. Our goal was to bring DNA science to more people in new places. We started working in our basements. We had a simple question: What could t
30、he world look like if everyone could analyze DNA? We were curious, as curious as you would have been if I had shown you this picture in 1980. 05:17 (Laughter) 05:18 You would have thought, Wow! I can now call my Aunt Glenda from the car and wish her a happy birthday. I can call anyone, anytime. This
31、 is the future! Little did you know, you would tap on that phone to make dinner reservations for you and Aunt Glenda to celebrate together. With another tap, youd be ordering her gift. And yet one more tap, and youd be liking Auntie Glenda on Facebook. And all of this, while sitting on the toilet. 0
32、5:45 (Laughter) 05:47 It is notoriously hard to predict where new technology might take us. And the same is true for personal DNA technology today. 05:57 For example, I could never have imagined that a truffle farmer, of all people, would use personal DNA machines. Dr. Paul Thomas grows truffles for
33、 a living. We see him pictured here, holding the first UK-cultivated truffle in his hands, on one of his farms. Truffles are this delicacy that stems from a fungus growing on the roots of living trees. And its a rare fungus. Some species may fetch 3,000, 7,000, or more dollars per kilogram. I learne
34、d from Paul that the stakes for a truffle farmer can be really high. When he sources new truffles to grow on his farms, hes exposed to the threat of knockoffs - truffles that look and feel like the real thing, but theyre of lower quality. But even to a trained eye like Pauls, even when looked at und
35、er a microscope, these truffles can pass for authentic. So in order to grow the highest quality truffles, the ones that chefs all over the world will fight over, Paul has to use DNA analysis. Isnt that mind-blowing? I bet you will never look at that black truffle risotto again without thinking of it
36、s genes. 07:09 (Laughter) 07:11 But personal DNA machines can also save human lives. Professor Ian Goodfellow is a virologist at the University of Cambridge. Last year he traveled to Sierra Leone. When the Ebola outbreak broke out in Western Africa, he quickly realized that doctors there lacked the
37、basic tools to detect and combat disease. Results could take up to a week to come back - thats way too long for the patients and the families who are suffering. Ian decided to move his lab into Makeni, Sierra Leone. Here we see Ian Goodfellow moving over 10 tons of equipment into a pop-up tent that
38、he would equip to detect and diagnose the virus and sequence it within 24 hours. But heres a surprise: the same equipment that Ian could use at his lab in the UK to sequence and diagnose Ebola, just wouldnt work under these conditions. Were talking 35 Celsius heat and over 90 percent humidity here.
39、But instead, Ian could use personal DNA machines small enough to be placed in front of the air-conditioning unit to keep sequencing the virus and keep saving lives. 08:25 This may seem like an extreme place for DNA analysis, but lets move on to an even more extreme environment: outer space. Lets tal
40、k about DNA analysis in space. When astronauts live aboard the International Space Station, theyre orbiting the planet 250 miles high. Theyre traveling at 17,000 miles per hour. Picture that - youre seeing 15 sunsets and sunrises every day. Youre also living in microgravity, floating. And under thes
41、e conditions, our bodies can do funky things. One of these things is that our immune systems get suppressed, making astronauts more prone to infection. 09:07 A 16-year-old girl, a high school student from New York, Anna-Sophia Boguraev, wondered whether changes to the DNA of astronauts could be rela
42、ted to this immune suppression, and through a science competition called Genes In Space, Anna-Sophia designed an experiment to test this hypothesis using a personal DNA machine aboard the International Space Station. Here we see Anna-Sophia on April 8, 2016, in Cape Canaveral, watching her experimen
43、t launch to the International Space Station. That cloud of smoke is the rocket that brought Anna-Sophias experiment to the International Space Station, where, three days later, astronaut Tim Peake carried out her experiment - in microgravity. Personal DNA machines are now aboard the International Sp
44、ace Station, where they can help monitor living conditions and protect the lives of astronauts. 10:05 A 16-year-old designing a DNA experiment to protect the lives of astronauts may seem like a rarity, the mark of a child genius. Well, to me, it signals something bigger: that DNA technology is final
45、ly within the reach of every one of you. 10:25 A few years ago, a college student armed with a personal computer could code an app, an app that is now a social network with more than one billion users. Could we be moving into a world of one personal DNA machine in every home? 10:41 I know families w
46、ho are already living in this reality. The Daniels family, for example, set up a DNA lab in the basement of their suburban Chicago home. This is not a family made of PhD scientists. This is a family like any other. They just like to spend time together doing fun, creative things. By day, Brian is an
47、 executive at a private equity firm. At night and on weekends, he experiments with DNA alongside his kids, ages seven and nine, as a way to explore the living world. Last time I called them, they were checking out homegrown produce from the backyard garden. They were testing tomatoes that they had p
48、icked, taking the flesh of their skin, putting it in a test tube, mixing it with chemicals to extract DNA and then using their home DNA copier to test those tomatoes for genetically engineered traits. 11:36 For the Daniels family, the personal DNA machine is like the chemistry set for the 21st centu
49、ry. Most of us may not yet be diagnosing genetic conditions in our kitchen sinks or doing at-home paternity testing. 11:51 (Laughter) 11:52 But weve definitely reached a point in history where every one of you could actually get hands-on with DNA in your kitchen. You could copy, paste and analyze DNA and extract meaningful information from it. And its at times like this that profound transformation is bound to happen; moments when a transformative, powerful technology that was before limited to a select few in the ivory tower, finally becomes within the reach of every one of us,