2017考研英语拓展阅读：“超级基因”将使人类不再患病

　　考研英语阅读能力提升需要不断地积累练习，通过多阅读来积累词汇，提升阅读速度，强化把握主旨能力。2017考研复习之初，时间相对充裕，新东方在线建议大家每天多做一些阅读，可娱乐也可增长见闻，还能提升能力。下面一篇文章是关于“超级基因”将使人类不再患病。

2017考研英语拓展阅读：“超级基因”将使人类不再患病

　　The study of nearly 600,000 people found 13 who should have developed debilitating diseases, but did not.

　　The hope is discovering what, against the odds, keeps them healthy and if that could lead to new therapies.

　　Experts said the approach, published in Nature Biotechnology, was "fascinating" but that it was still early days.

　　Errors in our code of life - our DNA - can cause disease.

　　Large numbers of studies have tried to understand these mutations by looking at people who become ill.

　　But the international team of researchers tried the opposite approach - searching for people harbouring damaging mutations but who remain healthy.

　　"Millions of years of evolution have produced far more protective mechanisms than we currently understand," said Dr Eric Schadt from the Icahn School of Medicine at Mount Sinai Hospital in New York.

　　He added: "Most genomic studies focus on finding the cause of a disease, but we see tremendous opportunity in figuring out what keeps people healthy."

　　The researchers scoured DNA databases containing information on 589,306 people.

　　They found 13 healthy people who should have developed one of eight genetic diseases: cystic fibrosis, Smith-Lemli-Opitz syndrome, familial dysautonomia, epidermolysis bullosa simplex, Pfeiffer syndrome, autoimmune polyendocrinopathy syndrome, acampomelic campomelic dysplasia and atelosteogenesis.

　　The report said the diseases were so severe that it was "highly unlikely that such an individual would have manifested the disease without it being clearly annotated in their health records".

　　Prof Stephen Friend, from the Icahn School of Medicine, said: "Finding these individuals is a starting point to searching for the other changes, eg in the genome, that might give us clues to develop therapies.

　　"Study the healthy, don’t just study the sick."

　　However, this is where the tantalising story ends. The scientists were unable to go out and find the lucky 13 because of the consent rules signed when their DNA sample was taken.

　　It means they do not know what is protecting them against disease.

　　It also leaves the team unable to prove that errors in testing, bad record keeping or mosaicism - in which the genetic defect affects only some cells in the body - are not behind their findings.

　　"Because of the inability to confirm the source or validity of the variants and the inability to recontact the individuals, this paper does not constitute a proof of principle," Dr Ada Hamosh, from Johns Hopkins University, argued.

　　And while Dr Scott Hebbring, from the University of Wisconsin, described the study as "fascinating" he also cautioned that diseases can present very differently even between patients that have same mutations.

　　Some may have few symptoms at all.

　　在这项基于60万人的医学研究中，科学家发现有13人本应该患有衰弱性疾病，但是却并没有任何迹象显示他们曾有过类似病史。

　　鉴于这样有这样的情况存在，科学家们希望弄明白到底是什么原因使得他们能够保持健康，并且研究是否有可能因此开发出新的治疗手段。

　　专家表示，《自然生物技术》上发表的这种研究方法非常“令人着迷”，但就目前的研究成果来说，下结论还为时尚早。

　　如果我们的生命代码DNA出错了的话，我们就会得病。

　　许多研究都希望通过观察病人来试图了解基因突变。

　　但这支由各国科学家组成的团队却另辟蹊径。他们研究那些本该因为严重基因突变而患病，但是却仍然健康的人。

　　纽约西奈山医院伊坎医学院的Eric Schadt博士说：“数百万年的进化使得人类的身体拥有了许多保护机制，而我们目前对此还知之甚少。”

　　他还说道：“大多数基因组学的研究都致力于寻找致病原因，但我们却另辟蹊径找到了另外一个具有重要意义的研究方向--即探究到底是什么原因使得人类能够保持健康。”

　　这项研究的数据来源于一个拥有589306个样本的DNA信息数据库。

　　科学家们发现样本中有13个人虽然健康，但从DNA信息来看，他们本应该患有遗传病。从基因信息来看，他们曾经有可能患上8种不同的遗传病，包括囊性纤维化、史密斯-雷凌-奥匹兹综合征、家族性自主神经功能异常、单纯型大疱性表皮松解、斐弗综合征、自身免疫性多内分泌腺病综合征、躯干发育异常症和骨发育不全症。

　　研究报告称这些疾病是如此的严重以至于“完全没有病人患上此类疾病而没有在健康记录上清楚地记载的可能性。”

　　来自伊坎医学院的史蒂芬·佛伦德教师说道：“这些个体案例的发现为我们指出了另外一个研究方向，我们开始对诸如基因组等对象进行研究，希望发现使得他们保持健康的原因。并且探寻是否有可能据此开发出新的治疗手段。”

　　“我们应该研究人们保持健康的原因，而不仅仅执着于寻找到底是什么原因使人得病。”

　　但这项前景无限的研究却无法再进行下去了。科学家们无法找出那13名幸运的人，因为他们在捐献DNA信息的时候曾签署保密协议，数据库不得泄露捐献人的个人信息。

　　这意味着无法弄清楚到底是什么原因使得他们能够保持健康。

　　同时，这也使得这项研究无法在逻辑上成立。因为科学家们无法证明他们的研究结果是否是因为错误或者不当保存的DNA信息，又或者仅仅是因为遗传缺陷只对部分细胞起作用的“嵌合现象。”

　　来自约翰霍普斯金大学的艾达·哈米什教授说道：“由于这项研究不能确认数据的来源或者基因突变样本的有效性，同时也不能和数据样本再联系以进行后续研究，所以这篇论文在理论证明上缺少证据。”

　　而对来自威士康星大学的斯科特教授来说，尽管这项研究非常“令人着迷”，但他也强调到，即使是具有相同基因突变的病人，他们的病发症状也可能会显著不同。

　　有些人可能根本不会显现出任何症状。

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