【英语语言学习】女儿的遗传缺陷

SCOTT SIMON, HOST:

 

Some people in life can see whole worlds in small things. Hugh Rienhoff can see it in a molecule¹ called transforming growth factor-beta 3. In 2003, his daughter, Beatrice, was born with a few noticeable abnormalities. Her eyes were spaced wider than usual; her leg muscles were weak; and she wouldn't gain weight. It resembled Marfan syndrome², a genetic⁴ disorder⁵ that can cause tears in the human heart, sometimes fatally.

 

Doctors couldn't diagnose Beatrice with Marfan - or any known disorder. So Hugh Rienhoff, who trained as a clinical geneticist, decided⁶ to try to identify the mysterious affliction that had struck his daughter. For nearly a decade, he's been on a hunt to find the genetic mutation⁷ that is responsible for Beatrice's illness and now, he's published an academic paper that may trace the route to a mutation in the gene³ that makes transforming growth factor-beta 3. It isn't a cure, but it is a big step.

 

Hugh Rienhoff joins us now from their family vacation. Thanks for making time for us.

 

HUGH RIENHOFF: My pleasure, Scott.

 

SIMON: First, how's Beatrice doing?

 

RIENHOFF: Beatrice is a sassy and bright 9-year-old and in general, she's doing quite well.

 

SIMON: Now, you are not exactly an amateur, but I gather you bought a DIY DNA⁸ kit⁹ a number of years ago, for about $2,000.

 

RIENHOFF: Yeah. What I did was, in order to do the complete job, I had to go to eBay and places like that, and buy all the bits and pieces that allow you to do the first step of DNA analysis.

 

SIMON: Did it ever occur to you to just let doctors and experts do it?

 

RIENHOFF: Well, I'm a physician, and I trained as a clinical geneticist, you know, at the laboratory bench. So I was not really content to just be told to go home and wait until science would catch up with Beatrice.

 

SIMON: As we mentioned, it's a step forward but not a cure. What happens now?

 

RIENHOFF: Well, I think the reason to publish the paper is the announcement, if you will, to the scientific world that this gene can be mutated. And this is at least what it looks like in one person and can we find others, perhaps older patients, and understand what's the long-term prognosis in a patient who has a mutation in this gene; because that could give us - you know, if we found a bunch of 80-year-olds who had mutations in TGF-beta 3 who were just skinny, little people, well, then we'd be delighted - in a way - to know that they didn't die of sudden heart failure.

 

The other thing that we're doing is making a mouse that has Beatrice's exact genetic variant¹⁰ so that we may be able to recapitulate¹¹ what Beatrice has so - you know, with the muscles and that sort of thing - and then study that mouse in great detail. And also...

 

SIMON: You're - I mean, you're making an actual, physical, fur-covered mouse?

 

RIENHOFF: Yeah. In fact, I just saw a picture of four of the pups today. They carry Bea's identical variation. Mice live to be 2, and so if they develop heart problems or vascular¹² problems or other problems, we'll be able to know that - if we're not able to find other Beatrices.

 

SIMON: A lot of people, I gather, are very happy for you and certainly, for Beatrice, but is this necessarily a good example for other families that have a sick child?

 

RIENHOFF: Well, I think there are bits and pieces of it that are sort of universal. One is - I mean, I think all patients, or the parents of patients, are constantly exploring and pushing and asking questions; and I think we live in that era where information is so available that it's natural that we do that. And I think seeking out the person who's willing to be your advocate - as it turns out, you know, I was the father and the scientist, or at least the lead scientist.

 

I certainly didn't do all the work myself. But part of being a parent is seeking. And I think, you know, many folks get discouraged, and I think there are people out there who will listen. It just takes time to find them. And even somebody like myself, who might be considered, you know, endowed with some special knowledge, really, to be honest with you, it was more persistence¹³ than it was anything else, that allowed me to go forward and to study this.

 

SIMON: Well, Mr. Rienhoff, I hope you find a lot of 80-year-olds with what Beatrice has.

 

RIENHOFF: (Laughing) That's my hope as well.

 

SIMON: Hugh Rienhoff is a doctor and entrepreneur who lives in the Bay Area. He joined us while on vacation with his family. Mr. Rienhoff, thanks very much for being with us.

 

RIENHOFF: It's my pleasure, Scott. Thank you.

1 molecule   

n.分子，克分子

参考例句：

• A molecule of water is made up of two atoms of hygrogen and one atom of oxygen.一个水分子是由P妈̬f婘̬ 妈̬成的。
• This gives us the structural formula of the molecule.这种方式给出了分子的结构式。

2 syndrome   

n.综合病症；并存特性

参考例句：

• The Institute says that an unidentified virus is to blame for the syndrome. 该研究所表示,引起这种综合症的是一种尚未确认的病毒。
• Results indicated that 11 fetuses had Down syndrome. 结果表明有11个胎儿患有唐氏综合征。

3 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。

4 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。

5 disorder   

n.紊乱，混乱；骚动，骚乱；疾病，失调

参考例句：

• When returning back,he discovered the room to be in disorder.回家后，他发现屋子里乱七八糟。
• It contained a vast number of letters in great disorder.里面七零八落地装着许多信件。

6 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。

7 mutation   

n.变化，变异，转变

参考例句：

• People who have this mutation need less sleep than others.有这种突变的人需要的睡眠比其他人少。
• So far the discussion has centered entirely around mutation in the strict sense.到目前为止，严格来讲，讨论完全集中于围绕突变问题上。

8 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。

9 kit   

n.用具包，成套工具；随身携带物

参考例句：

• The kit consisted of about twenty cosmetic items.整套工具包括大约20种化妆用品。
• The captain wants to inspect your kit.船长想检查你的行装。

10 variant   

adj.不同的，变异的；n.变体，异体

参考例句：

• We give professional suggestions according to variant tanning stages for each customer.我们针对每位顾客不同的日晒阶段，提供强度适合的晒黑建议。
• In a variant of this approach,the tests are data- driven.这个方法的一个变种，是数据驱动的测试。

11 recapitulate   

v.节述要旨，择要说明

参考例句：

• Let's recapitulate the main ideas.让我们来概括一下要点。
• It will be helpful to recapitulate them.在这里将其简要重述一下也是有帮助的。

12 vascular   

adj.血管的，脉管的

参考例句：

• The mechanism of this anomalous vascular response is unknown.此种不规则的血管反应的机制尚不清楚。
• The vascular changes interfere with diffusion of nutrients from plasma into adjacent perivascular tissue and cells.这些血管变化干扰了营养物质从血浆中向血管周围邻接的组织和细胞扩散。

13 persistence   

n.坚持，持续，存留

参考例句：

• The persistence of a cough in his daughter puzzled him.他女儿持续的咳嗽把他难住了。
• He achieved success through dogged persistence.他靠着坚持不懈取得了成功。