美国国家公共电台 NPR Experimental Drug For Huntington's Disease Jams Malfunctioning Gene

 

ARI SHAPIRO, HOST:

Scientists are about to launch a major study to find out whether a drug can silence the gene¹ that causes the devastating² illness Huntington's disease. This follows the discovery that the experimental drug reduced levels of the damaged protein that causes this mind-robbing disease. As NPR's science correspondent Richard Harris reports, the new study will determine whether that drug can also stop Huntington's progression.

RICHARD HARRIS, BYLINE³: If one of your parents has Huntington's disease, there's a 50/50 chance you will get it, too. Jeanette Garcia lost her mother to Huntington's. She's one of 10 children who get together for huge family reunions with all the usual drama of events like that.

JEANETTE GARCIA: But when you throw the word Huntington's disease into that mix, it is all the sudden this terrifying prospect⁴ that we're all faced with.

HARRIS: The disease usually strikes in middle age and can unfold over the course of 10 to 20 years.

GARCIA: The symptoms of HD are like having Alzheimer's, Parkinson's and ALS simultaneously⁵ when it's in its full swing.

HARRIS: The 57-year-old woman from San Jose had a genetic⁶ test a decade ago and found out that she was going to develop Huntington's eventually, and she's recently been seeing the first signs, including involuntary movements, which she noticed when watching a video of herself.

GARCIA: I saw myself about four months ago for the first time, and I went home. Holy crap, OK, here we go.

HARRIS: Garcia's disease is emerging at what could be a fortunate moment. She's heading off to a neurologist to see if she would qualify for a study that is generating a lot of excitement. Last year, drug company Roche/Genentech announced that an experimental drug sharply reduced the amount of illness-inducing protein measured in people's spinal⁷ fluid. They are now about to launch a trial involving more than 600 people with early symptoms of the disease to see if they can slow or stop its progression.

GARCIA: So it's exciting, and they're filling it. And I want to be a part of it.

HARRIS: Dr. Scott Schobel, who heads the research effort on this drug at Roche, says it's been more than 25 years since the Huntington gene was discovered.

SCOTT SCHOBEL: It's taken that long to translate the additional genetic discoveries into a tractable⁸ therapeutic⁹ strategy.

HARRIS: Scientists developed ways to silence the damaged gene so the body makes far less of the illness-inducing protein. Other researchers figured out how to deliver the drug into the brain. The solution there is to inject it into a person's spinal fluid.

SCHOBEL: The drug could actually transfer quite readily to the brain and then sink into the target brain tissue.

HARRIS: Roche started recruiting patients for its new study in January, but it halted the trial after discovering the drug didn't need to be injected as often as they'd planned.

SCHOBEL: We're going to get back up and running over the next several weeks to months.

HARRIS: Huntington's affects about 30,000 people in the United States, and this drug is the most hopeful news yet. George Yohrling, a scientist at the Huntington's Disease Society of America, says his main concern is whether the drug will penetrate¹⁰ deeply enough into the brain to stop the disease. If not, other treatments are also in the works, he says, some with more potential to reach deep into the brain.

GEORGE YOHRLING: So - lot of different approaches are being worked on in different stages of drug discovery across the world. It's really quite exciting.

HARRIS: Jeanette Garcia says she's all in on this one but not for herself as much as for her four children and six grandchildren.

GARCIA: I have a grandson, Richard, that was born blind who's at risk for HD. I'm just not going to stop because I don't want him to have to deal with this.

HARRIS: 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 devastating   

adj.毁灭性的，令人震惊的，强有力的

参考例句：

• It is the most devastating storm in 20 years.这是20年来破坏性最大的风暴。
• Affairs do have a devastating effect on marriages.婚外情确实会对婚姻造成毁灭性的影响。

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 prospect   

n.前景，前途；景色，视野

参考例句：

• This state of things holds out a cheerful prospect.事态呈现出可喜的前景。
• The prospect became more evident.前景变得更加明朗了。

5 simultaneously   

adv.同时发生地，同时进行地

参考例句：

• The radar beam can track a number of targets almost simultaneously.雷达波几乎可以同时追着多个目标。
• The Windows allow a computer user to execute multiple programs simultaneously.Windows允许计算机用户同时运行多个程序。

6 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。

7 spinal   

adj.针的，尖刺的，尖刺状突起的；adj.脊骨的，脊髓的

参考例句：

• After three days in Japan,the spinal column becomes extraordinarily flexible.在日本三天，就已经使脊椎骨变得富有弹性了。
• Your spinal column is made up of 24 movable vertebrae.你的脊柱由24个活动的脊椎骨构成。

8 tractable   

adj.易驾驭的；温顺的

参考例句：

• He was always tractable and quiet.他总是温顺、恬静。
• Gold and silver are tractable metals.金和银是容易加工的金属。

9 therapeutic   

adj.治疗的，起治疗作用的；对身心健康有益的

参考例句：

• Therapeutic measures were selected to fit the patient.选择治疗措施以适应病人的需要。
• When I was sad,music had a therapeutic effect.我悲伤的时候，音乐有治疗效力。

10 penetrate   

v.透(渗)入；刺入，刺穿；洞察，了解

参考例句：

• Western ideas penetrate slowly through the East.西方观念逐渐传入东方。
• The sunshine could not penetrate where the trees were thickest.阳光不能透入树木最浓密的地方。