美国国家公共电台 NPR Gene Therapy Advances To Better Treat 'Bubble Boy' Disease

 

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Sometimes rare diseases allow for scientists to pioneer bold new ideas. That's been the case with a condition that affects fewer than a hundred babies a year in the U.S. Those babies are born without a functioning immune system, and the quest to cure them has led to advances in a technique called gene¹ therapy. NPR's Richard Harris reports.

RICHARD HARRIS, BYLINE²: The disease is called severe combined immunodeficiency, or SCID. Matt Porteus, a Stanford pediatrician, says you might be familiar with it.

MATT PORTEUS: It was made famous, I guess, in the mid-'70s when the bubble boy was described in a documentary. And I think he capture the imagination of a lot of people.

HARRIS: David Vetter spent most of his short life in a plastic bubble to protect him from infection. He died at the age of 12. Things have come a long way since then. All babies born in the United States are now screened for this condition, and standard treatment - a bone marrow³ transplant - succeeds more than 90 percent of the time when it's done promptly⁴. Yet SCID remains⁵ a source of great interest to researchers.

PORTEUS: This is one of those diseases in which there's probably more doctors and scientists studying the disease than patients who have the disease.

HARRIS: In the 1990s, European scientists actually cured it in some patients using gene therapy. This technique involves removing defective⁶ blood cells from a patient, inserting a new gene with the help of a virus and then putting the cells back into the body. Those cells then build up the patient's immune systems. Dr. Donald Kohn at UCLA says at first it looked really good.

DONALD KOHN: And initially⁷, I think of the 20 patients, they all had immune recovery. But over time, five of them went on to develop a leukemia.

HARRIS: Scientists scrambled⁸ to figure out how to inject new genes⁹ into cells without triggering that blood cancer, and they're cautiously optimistic they've succeeded. Since then, there have been gradual improvements in the technique. The latest advance, involving eight infants, shows that a short dose of chemotherapy helped the new cells take root. The infants ended up with apparently¹⁰ healthy immune systems.

EWELINA MAMCARZ: I am thrilled to see these outstanding results.

HARRIS: Ewelina Mamcarz at St. Jude's Children's Research Hospital in Memphis is first author of a paper reporting these findings in the New England Journal of Medicine.

MAMCARZ: To be able to see these babies in my clinic now as toddlers is really very rewarding. They live normal lives. They're not any different from my daughters.

HARRIS: Today, most children with SCID who get a bone marrow transplant also need ongoing¹¹ treatment, including lifetime injections of antibodies. Jennifer Puck, a pediatrician at UC-San Francisco and a study collaborator¹², says infants who got the newest gene therapy don't need that medication.

JENNIFER PUCK: And they're growing normally. They're getting colds like everybody else. And they get over infections, so I would say that that is a cure.

HARRIS: Of course, she adds that they will be watched carefully for signs of leukemia and to see if the effects of the therapy are wearing off. In her mind, the key is finding these children early through newborn screening before they start to get life-threatening infections. That had typically been the case.

PUCK: And now we're seeing happy, bouncy little newborns who just look perfectly¹³ normal.

HARRIS: This is not only good news for those rare families. The disease provides a good opportunity for all those scientists to develop even newer gene therapy techniques. For example, instead of inserting a healthy gene, Matt Porteus at Stanford has used a powerful gene-editing technique called CRISPR to correct the genetic¹⁴ error in SCID blood cells. It works with human cells in a dish.

PORTEUS: And this really sets the stage then for testing the approach in a clinical trial hopefully in the next 12 to 18 months.

HARRIS: All this makes the leukemia setback¹⁵ from the 1990s feel like a fading memory. Kohn at UCLA said for more than a decade, it seemed that the field was a dead end but no more.

KOHN: It's just nice to see another success for gene therapy.

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 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。

3 marrow   

n.骨髓；精华；活力

参考例句：

• It was so cold that he felt frozen to the marrow. 天气太冷了，他感到寒冷刺骨。
• He was tired to the marrow of his bones.他真是累得筋疲力尽了。

4 promptly   

adv.及时地，敏捷地

参考例句：

• He paid the money back promptly.他立即还了钱。
• She promptly seized the opportunity his absence gave her.她立即抓住了因他不在场给她创造的机会。

5 remains   

n.剩余物，残留物；遗体，遗迹

参考例句：

• He ate the remains of food hungrily.他狼吞虎咽地吃剩余的食物。
• The remains of the meal were fed to the dog.残羹剩饭喂狗了。

6 defective   

adj.有毛病的，有问题的，有瑕疵的

参考例句：

• The firm had received bad publicity over a defective product. 该公司因为一件次品而受到媒体攻击。
• If the goods prove defective, the customer has the right to compensation. 如果货品证明有缺陷， 顾客有权索赔。

7 initially   

adv.最初，开始

参考例句：

• The ban was initially opposed by the US.这一禁令首先遭到美国的反对。
• Feathers initially developed from insect scales.羽毛最初由昆虫的翅瓣演化而来。

8 scrambled   

v.快速爬行( scramble的过去式和过去分词 )；攀登；争夺；（军事飞机）紧急起飞

参考例句：

• Each scrambled for the football at the football ground. 足球场上你争我夺。 来自《现代汉英综合大词典》
• He scrambled awkwardly to his feet. 他笨拙地爬起身来。 来自《简明英汉词典》

9 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

10 apparently   

adv.显然地；表面上，似乎

参考例句：

• An apparently blind alley leads suddenly into an open space.山穷水尽，豁然开朗。
• He was apparently much surprised at the news.他对那个消息显然感到十分惊异。

11 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。

12 collaborator   

n.合作者，协作者

参考例句：

• I need a collaborator to help me. 我需要个人跟我合作，帮我的忙。
• His collaborator, Hooke, was of a different opinion. 他的合作者霍克持有不同的看法。

13 perfectly   

adv.完美地，无可非议地，彻底地

参考例句：

• The witnesses were each perfectly certain of what they said.证人们个个对自己所说的话十分肯定。
• Everything that we're doing is all perfectly above board.我们做的每件事情都是光明正大的。

14 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。

15 setback   

n.退步，挫折，挫败

参考例句：

• Since that time there has never been any setback in his career.从那时起他在事业上一直没有遇到周折。
• She views every minor setback as a disaster.她把每个较小的挫折都看成重大灾难。