Haemophilia breakthrough 血友病治療方法的重大突破

學(xué)習(xí)要點(diǎn)

有關(guān)“haemophilia 血友病”的詞匯

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What was used to give Jake's body new genetic instructions for clotting blood?

文字稿

Walking two miles to work used to be unthinkable for Jake Omer. He was born with haemophilia A, a genetic defect that means his blood did not clot.

The slightest injury used to mean severe bleeding. Even a long stroll would cause bleeding in his joints. But no more.

Jake Omer, Haemophiliac
“I think the gene therapy has hopefully given me a new lease of life. It's going to allow me, when as my boys grow up, to be a lot more active with them - to kick footballs around, to climb trees with them, to hopefully run around in the park with them - and not be someone who's got to worry about what I'm doing.”

Jake was one of 13 patients given pioneering gene therapy last year. A virus was used to give his body new genetic instructions for clotting blood. All of the trial patients are off the haemophilia medication and 11 have roughly normal levels of blood clotting proteins.

Professor John Pasi, lead researcher, Barts and Queen Mary University of London
“This is huge! It's ground-breaking because the option to think about normalising levels in patients with severe haemophilia is absolutely mind-blowing. To offer people the potential of a normal life when they have had to inject themselves with Factor VIII every other day to prevent bleeding is transformational.”

Large studies will now take place to see if gene therapy can replace these regular injections and truly transform the lives of patients.

走兩英里路去上班對(duì)杰克·奧馬爾來(lái)說(shuō)曾是一件難以想象的事情，因?yàn)樗邢忍煨訟型血友病。這是一個(gè)基因缺陷，而因此導(dǎo)致血液無(wú)法凝結(jié)。

即使是最輕微的小傷也會(huì)造成大量的流血。甚至，散步時(shí)間稍長(zhǎng)一些也會(huì)使得他的關(guān)節(jié)流血。但是現(xiàn)在，這一切都有所改觀。

杰克·奧馬爾，血友病患者
“我覺(jué)得基因療法給了我開(kāi)啟新生活的希望。它使我能夠在我的兒子們成長(zhǎng)的過(guò)程中，更多地跟他們一起玩耍、運(yùn)動(dòng)，比如跟他們一起踢球、爬樹(shù)，或者在公園里奔跑。而不是太需要擔(dān)心自己的身體狀況?！?

杰克是去年接受這項(xiàng)前沿基因治療的十三位病人中的一位。他被接種了一種病毒，用來(lái)給他的凝血功能下達(dá)一種新的遺傳指令。目前所有參加試驗(yàn)的患者都已停藥，其中有十一位患者體內(nèi)的凝血蛋白差不多達(dá)到了正常水平。

約翰·帕西教授，倫敦瑪麗女王大學(xué)醫(yī)學(xué)院首席研究員
“這是一項(xiàng)巨大的、具有開(kāi)創(chuàng)性的試驗(yàn)成果，因?yàn)樗o嚴(yán)重血友病患者的凝血蛋白正常化提供了新的治療選擇。這絕對(duì)是個(gè)令人稱奇的研究成果。相比以前，患者為了能正常生活，每天得給自己注射凝血第八因子來(lái)防止出血，這絕對(duì)是一次變革?！?

大規(guī)模的研究即將開(kāi)始，這些研究將近一步觀察基因治療是否能取代定期注射，從而使患者的生活徹底改觀。

詞匯

genetic defect
基因缺損，基因缺陷

clot
凝結(jié)成塊

bleeding
出血，流血

blood clotting proteins
凝血蛋白

Factor Eight (Factor VIII)
凝血第八因子（外傷出血時(shí)幫助凝血的一種蛋白質(zhì)）

你知道嗎？

Red blood cells carry oxygen around the body. White blood cells are the body's defence mechanism. They seek out and destroy bacteria, viruses and fungi.

紅細(xì)胞通過(guò)血液將氧氣送到身體各個(gè)組織，白細(xì)胞則是人體的防御機(jī)制。它們幫助機(jī)體尋找并摧毀細(xì)菌、病毒以及真菌。

問(wèn)題答案

A virus was used to give his body new genetic instructions for clotting blood.