美国国家公共电台 NPR Genetically Altered Skin Saves A Boy Dying Of A Rare Disease

 

ROBERT SIEGEL, HOST:

We're going to hear now how doctors in Europe used genetically³ engineered skin cells to treat a child who was on the verge⁴ of death from a rare inherited disease. The treatment represents a notable success for the field of gene¹ therapy, which has suffered many setbacks. And it's potentially good news for children with this painful and often deadly skin condition. NPR's Richard Harris has the story.

RICHARD HARRIS, BYLINE⁵: The boy was born with a genetic² flaw that left him with a condition called junctional epidermolysis bullosa. The outer layer of his skin didn't bind⁶ well to the inner layer, and as a result, excruciating blisters⁷ appeared all over his body. In 2015, the 7-year-old boy ended up in a hospital after 60 percent of the outer layer of his skin, his epidermis⁸, had sloughed⁹ off. Tobias Rothoeft, a surgeon at a burn unit in Bochum, Germany, says doctors tried everything, including a skin transplant from the boy's father. But nothing helped.

TOBIAS ROTHOEFT: After nearly two months, we were absolutely sure that we could do nothing for this kid and that he would die.

HARRIS: Rothoeft and his colleagues took one last look around the medical literature and learned of an Italian team that was experimenting with a new treatment for this disease. Michele De Luca at the University of Modena was genetically engineering skin cells to repair the inborn¹⁰ flaw.

ROTHOEFT: And he promised us he could give us enough skin to heal this kid.

HARRIS: In a phone press conference hosted by the journal Nature, De Luca explained that he used a virus to insert a healthy gene into cells taken from the boy's skin. Some of those cells - stem cells - multiply indefinitely. So De Luca was able to grow entire sheets of engineered epidermis.

(SOUNDBITE OF PRESS CONFERENCE)

MICHELE DE LUCA: They are then packaged and transferred to the hospital where they are applied¹¹.

HARRIS: De Luca used this procedure successfully 12 years ago to replace a relatively¹² small patch of skin. But this boy needed to have 80 percent of his skin replaced with grafts¹³ of this genetically modified material. It took two operations both in the fall of 2015, starting with his arms and legs.

(SOUNDBITE OF PRESS CONFERENCE)

DE LUCA: In the first one, we grafted¹⁴ all four limbs. In the second operation, we grafted the remaining part of the body, mainly the back.

HARRIS: After eight months in the intensive care unit, the boy was well enough to go home. And two years later, the grafts are still going strong. Tobias Rothoeft says the boy is in school, even playing soccer.

ROTHOEFT: The kid is doing quite well. The skin is of good quality. It doesn't need any ointments¹⁵ or stuff like that. It's perfectly¹⁶ smooth, and it's quite stable. If he gets any bruises¹⁷ like small kids have, they just heal like bruises in every other kid do.

HARRIS: One lingering question is the concern that gene therapies like this involving viruses can increase the risk of cancer.

(SOUNDBITE OF PRESS CONFERENCE)

DE LUCA: Certainly it is a potential problem.

HARRIS: But Dr. de Luca says the risk is small compared with the life-saving benefit of this treatment. News of this is just starting to trickle¹⁸ out to advocates who have children with epidermolysis bullosa.

BRETT KOPELAN: I think it's groundbreaking. You know, I think it's incredibly exciting.

HARRIS: Brett Kopelan heads a U.S. organization focused on this disease known by its acronym¹⁹ DEBRA. His 10-year-old daughter, Rafi, has a severe case of the disease requiring frequent throat surgeries and the use of a wheelchair. The skin therapy described in the Nature paper wouldn't cure her, but it could reduce the agony of daily living. And Kopelan says medical interest in this disease is now growing rapidly.

KOPELAN: We've gone from zero biotechnology and pharmaceutical²⁰ to 12 companies. So we're really at an inflection point right now.

HARRIS: Experimental treatments are getting underway in the United States and Asia as well as in Europe. 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 genetically   

adv.遗传上

参考例句：

• All the bees in the colony are genetically related. 同一群体的蜜蜂都有亲缘关系。
• Genetically modified foods have already arrived on American dinner tables. 经基因改造加工过的食物已端上了美国人的餐桌。 来自英汉非文学 - 生命科学 - 基因与食物

4 verge   

n.边，边缘；v.接近，濒临

参考例句：

• The country's economy is on the verge of collapse.国家的经济已到了崩溃的边缘。
• She was on the verge of bursting into tears.她快要哭出来了。

5 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。

6 bind   

vt.捆，包扎；装订；约束；使凝固；vi.变硬

参考例句：

• I will let the waiter bind up the parcel for you.我让服务生帮你把包裹包起来。
• He wants a shirt that does not bind him.他要一件不使他觉得过紧的衬衫。

7 blisters   

n.水疱( blister的名词复数 )；水肿；气泡

参考例句：

• My new shoes have made blisters on my heels. 我的新鞋把我的脚跟磨起泡了。 来自《现代汉英综合大词典》
• His new shoes raised blisters on his feet. 他的新鞋把他的脚磨起了水疱。 来自《简明英汉词典》

8 epidermis   

n.表皮

参考例句：

• The external layer of skin is called the epidermis.皮的外层叫表皮。
• There is a neoplasm originating in his leg's epidermis.他的腿上有个生长在表皮上的肿瘤。

9 sloughed   

v.使蜕下或脱落( slough的过去式和过去分词 )；舍弃；除掉；摒弃

参考例句：

• Responsibilities are not sloughed off so easily. 责任不是那么容易推卸的。 来自《简明英汉词典》
• The scab has sloughed off. 痂脱落了。 来自辞典例句

10 inborn   

adj.天生的，生来的，先天的

参考例句：

• He is a man with an inborn love of joke.他是一个生来就喜欢开玩笑的人。
• He had an inborn talent for languages.他有语言天分。

11 applied   

adj.应用的；v.应用，适用

参考例句：

• She plans to take a course in applied linguistics.她打算学习应用语言学课程。
• This cream is best applied to the face at night.这种乳霜最好晚上擦脸用。

12 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。

13 grafts   

移植( graft的名词复数 )； 行贿； 接穗； 行贿得到的利益

参考例句：

• He's gone to London for skin grafts on his thighs. 他去伦敦做大腿植皮手术了。
• Her burns were treated with skin grafts. 她的烧伤是用植皮方法进行治疗的。

14 grafted   

移植( graft的过去式和过去分词 )； 嫁接； 使（思想、制度等）成为（…的一部份）； 植根

参考例句：

• No art can be grafted with success on another art. 没有哪种艺术能成功地嫁接到另一种艺术上。
• Apples are easily grafted. 苹果树很容易嫁接。

15 ointments   

n.软膏( ointment的名词复数 )；扫兴的人；煞风景的事物；药膏

参考例句：

• The firm has been dispensing ointments. 本公司配制药膏。 来自《简明英汉词典》
• Antibiotic ointments are useful for concurrent bacterial infections. 抗菌素软膏对伴发的细菌感染是有用的。 来自辞典例句

16 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。

17 bruises   

n.瘀伤，伤痕，擦伤( bruise的名词复数 )

参考例句：

• He was covered with bruises after falling off his bicycle. 他从自行车上摔了下来，摔得浑身伤痕。 来自《简明英汉词典》
• The pear had bruises of dark spots. 这个梨子有碰伤的黑斑。 来自《简明英汉词典》

18 trickle   

vi.淌，滴，流出，慢慢移动，逐渐消散

参考例句：

• The stream has thinned down to a mere trickle.这条小河变成细流了。
• The flood of cars has now slowed to a trickle.汹涌的车流现在已经变得稀稀拉拉。

19 acronym   

n.首字母简略词，简称

参考例句：

• That's a mouthful of an acronym for a very simple technology.对于一项非常简单的技术来说，这是一个很绕口的缩写词。
• TSDF is an acronym for Treatment, Storage and Disposal Facilities.TSDF是处理，储存和处置设施的一个缩写。

20 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。