VOA标准英语2011--Genetic Test Pinpoints Cause of Patient

Genetic² Test Pinpoints³ Cause of Patient Illness

About a decade ago, scientists decoded⁴ the human genome, creating a gene¹-by-gene map of our DNA⁵. In the decade since, genetic research has accelerated, but mostly it's stayed in the laboratory. Now, genetic science is taking its first steps into medical practice.
The Beery twins were born in 1996, and were diagnosed with cerebral⁶ palsy two years later. But as the children got older, their symptoms suggested a different diagnosis⁷, a lack of the neurotransmitter dopamine. Around age six, the twins started taking a drug called L-dopa, which dramatically lessened⁸ their muscle spasms⁹ and other symptoms.
Fast forward a decade or so, and new symptoms appeared. To see what other factor might be at work, a team at the Baylor College of Medicine in Texas analyzed¹⁰ DNA samples from each of the twins, looking for a mutation¹¹ that might be responsible.
Genetic tests then available didn't find anything unusual, however researcher Matthew Bainbridge says sequencing the entire genome of each of the twins later identified mutated copies of a gene called SPR (sepiapterin reductase).
"But mutations in SPR mean that, not only do you not make dopamine in the brain, you also don't make serotonin. And so these kids were getting this L-dopa treatment, which helped them with their lack of dopamine, but they weren't getting anything for their serotonin," he says.
A serotonin supplement was added to their medications, and within a month their mother says there were noticeable improvements in Alexis Beery's breathing and in her twin brother Noah's school work.
It seems almost every week there's a story about scientists who have identified a gene linked to some disease or another. Those discoveries are important, but Bainbridge says the Beery case represents something else.
"The difference is that we can actually do something, because we found these mutations and we knew that they were causing the disease. We could actually change the therapy the children got," Bainbridge says.
Whole-genome sequencing is still an expensive, specialized¹² activity. But the cost is coming down, and Bainbridge says this individualized approach to diagnosis and treatment may move out of the research lab and into the doctor's office, at least for some conditions, in as little as two to three years.
"I think eventually it will be routine. I can imagine a future - and not too distantly, in five to ten years - where children will be born and their whole genome will be sequenced immediately."
Bainbridge and his colleagues describe their work in the journal Science Translational Medicine.

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 pinpoints   

准确地找出或描述( pinpoint的第三人称单数 )； 为…准确定位

参考例句：

• The bombs hit the pinpoints at which they were aimed. 炸弹精确地击中了目标。
• There's really no point in arguing about pinpoints. 为芝麻绿豆般的小事争论实在毫无意义。

4 decoded   

v.译（码），解（码）( decode的过去式和过去分词 )；分析及译解电子信号

参考例句：

• The control unit decoded the 18 bits. 控制器对这18位字进行了译码。 来自《简明英汉词典》
• Scientists have decoded the dog genome. 科学家已经译解了狗的基因组。 来自辞典例句

5 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。

6 cerebral   

adj.脑的，大脑的；有智力的，理智型的

参考例句：

• Your left cerebral hemisphere controls the right-hand side of your body.你的左半脑控制身体的右半身。
• He is a precise,methodical,cerebral man who carefully chooses his words.他是一个一丝不苟、有条理和理智的人，措辞谨慎。

7 diagnosis   

n.诊断，诊断结果，调查分析，判断

参考例句：

• His symptoms gave no obvious pointer to a possible diagnosis.他的症状无法作出明确的诊断。
• The engineer made a complete diagnosis of the bridge's collapse.工程师对桥的倒塌做一次彻底的调查分析。

8 lessened   

减少的，减弱的

参考例句：

• Listening to the speech through an interpreter lessened its impact somewhat. 演讲辞通过翻译的嘴说出来，多少削弱了演讲的力量。
• The flight to suburbia lessened the number of middle-class families living within the city. 随着迁往郊外的风行，住在城内的中产家庭减少了。

9 spasms   

n.痉挛( spasm的名词复数 )；抽搐；（能量、行为等的）突发；发作

参考例句：

• After the patient received acupuncture treatment,his spasms eased off somewhat. 病人接受针刺治疗后，痉挛稍微减轻了。 来自《简明英汉词典》
• The smile died, squeezed out by spasms of anticipation and anxiety. 一阵阵预测和焦虑把她脸上的微笑挤掉了。 来自辞典例句

10 analyzed   

v.分析( analyze的过去式和过去分词 )；分解；解释；对…进行心理分析

参考例句：

• The doctors analyzed the blood sample for anemia. 医生们分析了贫血的血样。 来自《简明英汉词典》
• The young man did not analyze the process of his captivation and enrapturement, for love to him was a mystery and could not be analyzed. 这年轻人没有分析自己蛊惑著迷的过程，因为对他来说，爱是个不可分析的迷。 来自《简明英汉词典》

11 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。

12 specialized   

adj.专门的，专业化的

参考例句：

• There are many specialized agencies in the United Nations.联合国有许多专门机构。
• These tools are very specialized.这些是专用工具。