美国国家公共电台 NPR UK Biobank Requires Earth's Geneticists To Cooperate, Not Compete

 

SCOTT SIMON, HOST:

Scientists announced the results of a study on sexuality this week. They say they found a genetic² link to being LGBTQ, but it's spread widely across the genome and not limited to a single gene¹. To reach that conclusion they used a repository called the UK Biobank which has quietly become a major resource for scientists around the world. NPR's science correspondent Richard Harris has the story about how this unique research tool came about.

RICHARD HARRIS, BYLINE³: The UK Biobank is a collaboration⁴ of scientists and civic⁵ minded Brits, including a 70-year-old man from Nottingham.

CHRISTOPHER FLETCHER: Hello. My name's Fletcher, I have an appointment at 1:30.

HARRIS: Christopher Fletcher has driven 90 miles from home to a radiology clinic outside Manchester. A decade ago he had donated a blood sample to the nascent⁶ UK Biobank and told scientists they were free to poke⁷ around in his medical records. And now he's adding more valuable information to this treasure trove⁸ of health data - medical images. Before he goes in the scanner a technician runs down a list. No metal implants⁹? Good.

UNIDENTIFIED TECHNICIAN #1: So anything like tattoos¹⁰ or piercings?

FLETCHER: Certainly not.

HARRIS: Fletcher will get a scan of his heart and internal organs to look for buildup in his arteries¹¹ and fat deposits around his organs as well as a brain MRI.

UNIDENTIFIED TECHNICIAN #1: At the end of our brain scan, if we have time, we actually get you to complete a little functional¹² task, a little game we get you to play. I just need to make sure that you'll be able to see it plainly, so if you could please have a look at the chart on the wall.

FLETCHER: Yes.

UNIDENTIFIED TECHNICIAN #1: Reading...

HARRIS: Fletcher will spend half a day here donating his data to science.

FLETCHER: I'm in the fortunate position that I have very little wrong with me and I've got to 70 years old. And I just thought I should give a bit of public spiritedness really. Nothing more, nothing less, really.

HARRIS: After a change of clothes he's ready to start.

UNIDENTIFIED TECHNICIAN #2: Gonna get you to pop these earplugs in. OK. And then we'll take you through to the scanning room, OK?

FLETCHER: OK.

(SOUNDBITE OF MEDICAL SCANNER SCANNING)

HARRIS: What makes the UK Biobank valuable is not only the 1/2 million volunteers whose health will be followed for decades, but its community spirited scientific strategy. Chief scientist Cathie Sudlow says, in a break from their usual ways, the organizers aren't out to answer their own scientific questions, but to serve their colleagues.

CATHIE SUDLOW: I'll freely admit when I first started out in Biobank I couldn't really believe that we were all going to work really hard to make data available for other people. And that was because I came from this traditional kind of slightly paranoid, somewhat territorial¹³ academic background.

HARRIS: That's the reality of the scramble¹⁴ for research funds. Between 2006 and 2010 the Biobank organizers hit the pavement to recruit middle aged¹⁵ volunteers. Their medical data are stripped of personal information and put into a database that scientists with a legitimate¹⁶ request can download and study. Principal Investigator¹⁷ Rory Collins says it started off slowly.

RORY COLLINS: The thing that really changed the landscape from the point of view of use was when the funders decided¹⁸ to provide us with the funding to genotype all 1/2 million of the participants.

HARRIS: A genotype is essentially¹⁹ a snapshot of a person's genetic variants²⁰. With that, scientists can look at people with specific traits or medical conditions and search for a matching genetic pattern. Dr. Sudlow says one of the most significant discoveries so far is a new understanding of type 1 diabetes²¹. It used to be called juvenile²² diabetes, a misnomer²³.

SUDLOW: Type 1 diabetes is far more common and relevant in middle age than had been previously²⁴ appreciated. It's always been thought to be a disease of younger life onset²⁵.

HARRIS: When scientists around the world realized that they could use the Biobank to do this kind of research without even drawing a blood sample, Dr. Collins says interest took off.

COLLINS: And so far 10,000 researchers from around the world have registered with the resource and we've now gone past a thousand different research projects that are ongoing²⁶.

HARRIS: New research papers appear in the scientific literature almost daily. And though the subjects themselves are primarily Brits, researchers from around the world are welcome to probe the data. Collins says the idea is to democratize research so scientists in relatively²⁷ neglected fields still have a shot at doing world class research.

COLLINS: Also people who are working in countries where perhaps they don't have the resources.

HARRIS: In Queensland, Australia Peter Visscher has plenty of resources and a lab teeming²⁸ with scientists interested in exploring human genetics. They have downloaded data repeatedly from the UK Biobank. In one project they found a genetic signature that illuminates²⁹ why people tend to select mates of similar height and educational attainment³⁰.

PETER VISSCHER: I thought it was quite cool because the theory of that's been known for more than 100 years, but we've never been able to demonstrate that because we've never had this kind of data.

HARRIS: Visscher uses other genetic repositories for his studies, including a big one managed by the U.S. National Institutes of Health. The downside is it has less detailed³¹ information about people who donated that DNA³².

VISSCHER: And that's what's so special about the UK Biobank, that all individuals have been measured for all traits essentially.

HARRIS: Visscher does what's called genome wide association studies which are a bit controversial. Chief Scientist Cathie Sudlow acknowledges it's often not clear how to make use of the correlations³³ that come from this kind of analysis.

SUDLOW: So I would say the jury is out, but Biobank's open to this major possibility to actually interrogate³⁴ these kind of questions at scale.

HARRIS: And in the process this has expanded imaginations about what else this collection can yield. The U.S. pharmaceutical³⁵ company Regeneron offered to sequence the genes³⁶ of all 1/2 million participants. Company scientists get an exclusive first look at the data, but it will soon be made available to everyone who has access to the Biobank. And the richer the collection becomes, the more valuable it is and the greater the incentive³⁷ to make it even richer. Chief Scientist Cathie Sudlow says it's satisfying even though she's not pursuing her own research ideas.

SUDLOW: It's made me realize how fun it is to do stuff that actually makes things happen. That's a really legitimate and interesting thing to do.

HARRIS: She expects collaboration, rather than traditional competition, will be what really drives medical science forward.

Richard Harris, NPR News.

1 gene   

n.遗传因子，基因

参考例句：

• A single gene may have many effects.单一基因可能具有很多种效应。
• The targeting of gene therapy has been paid close attention.其中基因治疗的靶向性是值得密切关注的问题之一。

2 genetic   

adj.遗传的，遗传学的

参考例句：

• It's very difficult to treat genetic diseases.遗传性疾病治疗起来很困难。
• Each daughter cell can receive a full complement of the genetic information.每个子细胞可以收到遗传信息的一个完全补偿物。

3 byline   

n.署名；v.署名

参考例句：

• His byline was absent as well.他的署名也不见了。
• We wish to thank the author of this article which carries no byline.我们要感谢这篇文章的那位没有署名的作者。

4 collaboration   

n.合作，协作；勾结

参考例句：

• The two companies are working in close collaboration each other.这两家公司密切合作。
• He was shot for collaboration with the enemy.他因通敌而被枪毙了。

5 civic   

adj.城市的，都市的，市民的，公民的

参考例句：

• I feel it is my civic duty to vote.我认为投票选举是我作为公民的义务。
• The civic leaders helped to forward the project.市政府领导者协助促进工程的进展。

6 nascent   

adj.初生的，发生中的

参考例句：

• That slim book showed the Chinese intelligentsia and the nascent working class.那本小册子讲述了中国的知识界和新兴的工人阶级。
• Despite a nascent democracy movement,there's little traction for direct suffrage.尽管有过一次新生的民主运动，但几乎不会带来直接选举。

7 poke   

n.刺，戳，袋；vt.拨开，刺，戳；vi.戳，刺，捅，搜索，伸出，行动散慢

参考例句：

• We never thought she would poke her nose into this.想不到她会插上一手。
• Don't poke fun at me.别拿我凑趣儿。

8 trove   

n.被发现的东西，收藏的东西

参考例句：

• He assembled a rich trove of Chinese porcelain.他收集了一批中国瓷器。
• The gallery is a treasure trove of medieval art.这个画廊是中世纪艺术的宝库。

9 implants   

n.（植入身体中的）移植物( implant的名词复数 )

参考例句：

• Hormone implants are used as growth boosters. 激素植入物被用作生长辅助剂。 来自《简明英汉词典》
• Perhaps the most far-reaching project is an initiative called Living Implants From Engineering (LIFE). 也许最具深远意义的项目，是刚刚启动的建造活体移植工程 (LIFE)。 来自英汉非文学 - 生命科学 - 医学的第四次革命

10 tattoos   

n.文身( tattoo的名词复数 )；归营鼓；军队夜间表演操；连续有节奏的敲击声v.刺青，文身( tattoo的第三人称单数 )；连续有节奏地敲击；作连续有节奏的敲击

参考例句：

• His arms were covered in tattoos. 他的胳膊上刺满了花纹。
• His arms were covered in tattoos. 他的双臂刺满了纹身。 来自《简明英汉词典》

11 arteries   

n.动脉( artery的名词复数 )；干线，要道

参考例句：

• Even grafting new blood vessels in place of the diseased coronary arteries has been tried. 甚至移植新血管代替不健康的冠状动脉的方法都已经试过。 来自《简明英汉词典》
• This is the place where the three main arteries of West London traffic met. 这就是伦敦西部三条主要交通干线的交汇处。 来自《简明英汉词典》

12 functional   

adj.为实用而设计的，具备功能的，起作用的

参考例句：

• The telephone was out of order,but is functional now.电话刚才坏了，但现在可以用了。
• The furniture is not fancy,just functional.这些家具不是摆着好看的，只是为了实用。

13 territorial   

adj.领土的，领地的

参考例句：

• The country is fighting to preserve its territorial integrity.该国在为保持领土的完整而进行斗争。
• They were not allowed to fish in our territorial waters.不允许他们在我国领海捕鱼。

14 scramble   

v.爬行，攀爬，杂乱蔓延，碎片，片段，废料

参考例句：

• He broke his leg in his scramble down the wall.他爬墙摔断了腿。
• It was a long scramble to the top of the hill.到山顶须要爬登一段长路。

15 aged   

adj.年老的，陈年的

参考例句：

• He had put on weight and aged a little.他胖了，也老点了。
• He is aged,but his memory is still good.他已年老，然而记忆力还好。

16 legitimate   

adj.合法的，合理的，合乎逻辑的；v.使合法

参考例句：

• Sickness is a legitimate reason for asking for leave.生病是请假的一个正当的理由。
• That's a perfectly legitimate fear.怀有这种恐惧完全在情理之中。

17 investigator   

n.研究者，调查者，审查者

参考例句：

• He was a special investigator for the FBI.他是联邦调查局的特别调查员。
• The investigator was able to deduce the crime and find the criminal.调查者能够推出犯罪过程并锁定罪犯。

18 decided   

adj.决定了的，坚决的；明显的，明确的

参考例句：

• This gave them a decided advantage over their opponents.这使他们比对手具有明显的优势。
• There is a decided difference between British and Chinese way of greeting.英国人和中国人打招呼的方式有很明显的区别。

19 essentially   

adv.本质上，实质上，基本上

参考例句：

• Really great men are essentially modest.真正的伟人大都很谦虚。
• She is an essentially selfish person.她本质上是个自私自利的人。

20 variants   

n.变体( variant的名词复数 )；变种；变型；（词等的）变体

参考例句：

• Those variants will be preserved in the'struggle for existence". 这些变异将在“生存竞争”中被保留下来。 来自辞典例句
• Like organisms, viruses have variants, generally called strains. 与其他生物一样，病毒也有变种，一般称之为株系。 来自辞典例句

21 diabetes   

n.糖尿病

参考例句：

• In case of diabetes, physicians advise against the use of sugar.对于糖尿病患者，医生告诫他们不要吃糖。
• Diabetes is caused by a fault in the insulin production of the body.糖尿病是由体內胰岛素分泌失调引起的。

22 juvenile   

n.青少年，少年读物；adj.青少年的，幼稚的

参考例句：

• For a grown man he acted in a very juvenile manner.身为成年人，他的行为举止显得十分幼稚。
• Juvenile crime is increasing at a terrifying rate.青少年犯罪正在以惊人的速度增长。

23 misnomer   

n.误称

参考例句：

• Herbal"tea"is something of a misnomer because these drinks contain no tea at all.花草“茶”是一个误称，因为这类饮料里面根本不含茶。
• Actually," Underground "is a misnomer,because more than half the shops are above ground.实际上，“ 地下 ” 这个名称用之不当，因为半数以上的店铺是在地面上的。

24 previously   

adv.以前，先前（地）

参考例句：

• The bicycle tyre blew out at a previously damaged point.自行车胎在以前损坏过的地方又爆开了。
• Let me digress for a moment and explain what had happened previously.让我岔开一会儿，解释原先发生了什么。

25 onset   

n.进攻，袭击，开始，突然开始

参考例句：

• The drug must be taken from the onset of the infection.这种药必须在感染的最初期就开始服用。
• Our troops withstood the onset of the enemy.我们的部队抵挡住了敌人的进攻。

26 ongoing   

adj.进行中的，前进的

参考例句：

• The problem is ongoing.这个问题尚未解决。
• The issues raised in the report relate directly to Age Concern's ongoing work in this area.报告中提出的问题与“关心老人”组织在这方面正在做的工作有直接的关系。

27 relatively   

adv.比较...地，相对地

参考例句：

• The rabbit is a relatively recent introduction in Australia.兔子是相对较新引入澳大利亚的物种。
• The operation was relatively painless.手术相对来说不痛。

28 teeming   

adj.丰富的v.充满( teem的现在分词 )；到处都是；（指水、雨等）暴降；倾注

参考例句：

• The rain was teeming down. 大雨倾盆而下。
• the teeming streets of the city 熙熙攘攘的城市街道

29 illuminates   

v.使明亮( illuminate的第三人称单数 )；照亮；装饰；说明

参考例句：

• The light shines on from over there and illuminates the stage. 灯光从那边照进来，照亮了舞台。 来自《简明英汉词典》
• The sun illuminates the sky. 太阳照亮了天空。 来自《简明英汉词典》

30 attainment   

n.达到，到达；［常pl.］成就，造诣

参考例句：

• We congratulated her upon her attainment to so great an age.我们祝贺她高寿。
• The attainment of the success is not easy.成功的取得并不容易。

31 detailed   

adj.详细的，详尽的，极注意细节的，完全的

参考例句：

• He had made a detailed study of the terrain.他对地形作了缜密的研究。
• A detailed list of our publications is available on request.我们的出版物有一份详细的目录备索。

32 DNA   

(缩)deoxyribonucleic acid 脱氧核糖核酸

参考例句：

• DNA is stored in the nucleus of a cell.脱氧核糖核酸储存于细胞的细胞核里。
• Gene mutations are alterations in the DNA code.基因突变是指DNA密码的改变。

33 correlations   

相互的关系( correlation的名词复数 )

参考例句：

• One would expect strong and positive correlations between both complexes. 人们往往以为这两个综合体之间有紧密的正相关。
• The correlations are of unequal value. 这些对应联系的价值并不相同。

34 interrogate   

vt.讯问，审问，盘问

参考例句：

• The lawyer took a long time to interrogate the witness fully.律师花了很长时间仔细询问目击者。
• We will interrogate the two suspects separately.我们要对这两个嫌疑人单独进行审讯。

35 pharmaceutical   

adj.药学的，药物的；药用的，药剂师的

参考例句：

• She has donated money to establish a pharmaceutical laboratory.她捐款成立了一个药剂实验室。
• We are engaged in a legal tussle with a large pharmaceutical company.我们正同一家大制药公司闹法律纠纷。

36 genes   

n.基因( gene的名词复数 )

参考例句：

• You have good genes from your parents, so you should live a long time. 你从父母那儿获得优良的基因，所以能够活得很长。 来自《简明英汉词典》
• Differences will help to reveal the functions of the genes. 它们间的差异将会帮助我们揭开基因多种功能。 来自英汉非文学 - 生命科学 - 生物技术的世纪

37 incentive   

n.刺激；动力；鼓励；诱因；动机

参考例句：

• Money is still a major incentive in most occupations.在许多职业中，钱仍是主要的鼓励因素。
• He hasn't much incentive to work hard.他没有努力工作的动机。