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  1. VOR 5 STD.

    第2791期:What happens when your job is just too boring?

    We all know that having too much work and too much stress can lead to burnout, but did you know that the opposite can also be a problem? Have you ever felt that your job was too easy and that everything was just a bit too boring? If so, you might be suffering from rust out.我们都知道,工作量过多,压力太多会导致倦怠,但是您知道恰恰相反可能是一个问题吗? 您是否曾经觉得您的工作太简单了,一切都太无聊了? 如果是这样,您可能会遭受生锈。 Rust out happens when there isn't enough challenge to motivate you to keep going in your job. Without some challenge, it can be hard to feelgrowth in your role. If a job has lots of repetitive and monotonous tasks, it can make it hard to see the purpose of a role. Having a lower level of responsibility at work than before can also make it harder to feel fulfilled in a job. This can affect people who have taken time out from their career for family or personal reasons.当没有足够的挑战以激励您继续工作时,就会发生生锈。 没有一些挑战,您的角色可能很难感受到成长。 如果工作有很多重复且单调的任务,则可能很难看到角色的目的。 在工作中的责任水平低于以前,也可以使工作中的满足感更加困难。 这可能会影响因家庭或个人原因从职业生涯中抽出时间的人。 If you think that you might be suffering from rust out, then there are a number of signs to watch out for. You might dread finding your schedule each week and not seeing anything stimulating on it. It might be that you often find yourself clock-watching at work, willing the time to pass.Focus and motivation can drop, leading you to get less done than you had before, or to make more mistakes. You may start to feel apathetic and disengaged towards your job. These feelings can lead to anxiety and depression which can then spread from work into people's personal lives.如果您认为自己可能患有生锈,那么有很多迹象要注意。 您可能会害怕每周找到自己的日程安排,而没有看到任何刺激的东西。 可能是您经常发现自己在工作中观看时钟,愿意通过时间。 专注和动力可能会下降,导致您比以前做得更少,或者犯更多的错误。 您可能会开始感到冷漠,并脱离工作。 这些感觉会导致焦虑和沮丧,然后可以从工作中传播到人们的个人生活中。 Finding yourself suffering from rust out can sometimes be an opportunity. Some experts suggest that self-awareness is key. By taking some time to realise what you are really looking for in work and life, you can take steps to re-discover your motivation. Setting yourself goals and allowing yourself to try new things can help you find a new purpose. Considering what you really need for a job can also lead you to find a new one that's better suited to your goals in life.发现自己患有生锈有时可能是一个机会。 一些专家认为自我意识是关键。 通过花一些时间意识到自己在工作和生活中真正寻找的东西,您可以采取步骤重新发现自己的动力。 设定自己的目标并让自己尝试新事物可以帮助您找到新的目标。 考虑到您真正需要的工作也可能会导致您找到一个更适合您人生目标的新工作。

    2 Min.
  2. VOR 2 TAGEN

    第2789期:The Life-saving Secrets In Your Baby(5)

    I also think there's a systematic or institutional resistance, right? Because genomics is thetipof the spear for preventive care. It's really the first in a series of things that we need to bring in order to preserve our health: multiomics, proteomics, transcriptomics, wearables, all the exciting things we've heard about that will keep us well instead of simply treating us when we're sick.我也认为存在一种系统性或制度性的抵制,对吧?因为基因组学是预防医疗的“矛头”。它实际上是我们为了保持健康所需要引入的一系列手段中的第一步:多组学、蛋白质组学、转录组学、可穿戴设备,所有这些令人兴奋的技术,都是为了帮助我们保持健康,而不仅仅是在生病时才进行治疗。 Now, I'm happy to tell you that I've co-founded an international consortium on newborn sequencing. It's grown to 27 groups around the world that are all doing this in different healthcare systems. We get together, we compare notes, we share data. It's really exciting. I go to these annual meetings, it’s the most exciting meeting I go to every year, we feel like we're inventing an entirely new field of medicine.现在,我很高兴地告诉大家,我共同创立了一个关于新生儿基因测序的国际联盟。它已经发展到全球27个团队,他们在不同的医疗体系中开展类似的工作。我们聚在一起,交流经验,分享数据,这令人无比兴奋。我每年都会参加这个年度会议,这也是我每年最激动人心的一次会议,因为我们感觉自己正在开创一个全新的医学领域。 But if we really want to invent the future, we've got to do something different. If we really want to invent the future, we've got to realize that a child's DNA doesn't change over time, but the science is changing all the time. And so what that means is we should sequence your child's DNA, and we should revisit and reanalyze that DNA over and over again to truly create the dream of genome-informed medicine. Because each and every year there will be new insights and new treatments available.但如果我们真的想要创造未来,就必须做一些不同的事情。我们必须认识到:孩子的DNA不会随时间改变,但科学却在不断进步。这意味着我们应该对孩子的DNA进行测序,并且反复重新分析它,从而真正实现“基因组指导医疗”的梦想。因为每一年都会出现新的发现和新的治疗方法。 This isn't offered anywhere in the world, but I'm happy to tell you that we are trying to build this. We are building an AI-enhanced digital health platform so that you, your grandchildren, your children, your pediatricians, your health care centers, your employers, your nations can do this at scale.目前,全世界还没有地方提供这种服务,但我很高兴地告诉大家,我们正在努力构建它。我们正在打造一个由人工智能增强的数字健康平台,这样你、你的孩子、你的孙辈、儿科医生、医疗中心、雇主乃至国家,都可以大规模开展这一工作。 It's going to take a certain amount of courage to change the way we think about disease, to embrace the knowledge of risk in order to preserve our health, rather than waiting for us and our children to get sick and treating them there. But if we can do this, if we can embrace this, we can save millions of lives and usher in an entirely new era of genome-inspired medicine.要改变我们对疾病的看法,需要一定的勇气。我们必须接纳风险知识,以此来保护我们的健康,而不是等到我们和孩子生病后再去治疗。但如果我们能够做到这一点,如果我们能够拥抱这一理念,我们就能拯救数百万人的生命,并迎来一个由基因组启发的全新时代的医学。

    2 Min.
  3. VOR 3 TAGEN

    第2788期:The Life-saving Secrets In Your Baby(4)

    But that system is overburdened, under-resourced, and since 2008, it's only added nine new conditions. And as we've just said, there are several hundred treatable genetic conditions today. It’s going to be very hard for them to keep up.但该体系人手不足、资源匮乏,自2008年以来仅新增了九种疾病。正如我们刚才所说,如今有数百种可治疗的遗传性疾病,单靠现有体系很难跟得上。 Why are people so resistant? Why aren't we demanding this? Well, part of the reason is human psychology, right? You bring home this perfect little baby, and you don't really want to look for something that might be wrong, even if, intellectually, you know it might be treatable. But we've got to get past that.人们为什么如此抗拒?为什么我们不去强烈要求普及这项技术?部分原因来自人类心理:把这个完美的小宝宝带回家后,你并不想去寻找可能存在的问题——即便从理智上你知道这些问题可能是可治疗的。但我们必须突破这种心理障碍。 The other reason is privacy concerns. And this is sort of ironic because privacy concerns are real. Your DNA is a biometric. It's kind of like a fingerprint. There's certainly some law enforcement considerations, but if somebody steals my genome, they really can't make much of it. Whereas if they steal my electronic footprint or your electronic footprint, there's a lot more harm that can be done.另一个原因是隐私担忧。这有点讽刺,但隐私担忧确实存在。你的DNA是一种生物识别信息,有点像指纹。确实存在执法方面的考虑,但如果有人窃取了我的基因组,实际上他们也很难利用它做太多事情;而如果窃取了我的电子足迹或你的电子足迹,就可能造成更多的伤害。 So I'm not saying we shouldn't be concerned about privacy. In fact, privacy is protected when you look for genomic information in a medical context, just like it's protected for your psychiatric history and your HIV status and so forth.我并不是说我们不该关心隐私问题。事实上,在医疗情境下查找基因组信息会受到隐私保护,就像精神病史、艾滋病感染状况等信息一样受保护。 It's also been confusing to have direct-to-consumer genetic testing. Now, these companies, for the most part, were very honest about what they offered, but they were not protected by these same legal protections as health care. And typical direct-to-consumer companies use a technology called genotyping. So they're looking for various markers in the genome, which is good for ancestry and traits, but not so good for mutations. For that, you really need the sequencing, every single letter of the DNA, and that's 5,000 times more granular.直接面向消费者的基因检测也令人困惑。这些公司在很大程度上对其提供的服务是坦诚的,但它们并不受与医疗保健相同的法律保护。典型的直接检测公司使用的是一种叫做基因分型(genotyping)的技术,因此它们寻找的是基因组中的各种标记,这对祖源和性状分析很有用,但对检测突变并不十分可靠。要检测突变,确实需要测序——也就是读取DNA的每一个碱基——这种方法的精细度高出约5000倍。

    2 Min.
  4. VOR 4 TAGEN

    第2787期:The Life-saving Secrets In Your Baby(3)

    Let me let you hear from a couple of the BabySeq mothers who've gone through this and hear what they have to say about the findings in their own children.让我带你听听几位参与 BabySeq 项目的母亲们的心声,听听她们对于自己孩子检测结果的看法。Now, this was baby Adam, who had an elastin gene mutation which can be associated with a narrowed aorta.这是婴儿亚当,他有一个弹性蛋白基因突变,这种突变可能与主动脉狭窄有关。 Finding out that your newborn has a heart problem, of all things, is absolutely terrifying. But knowing that we could be proactive gave us some peace of mind that we were doing everything we could do instead of being surprised down the road.发现自己新生的孩子居然有心脏问题,这无疑是极其可怕的。但得知我们能够主动采取措施,这让我们心里多少有些安慰,因为我们已经尽力而为,而不是在未来突然遭遇意外打击。 And in fact, after this mutation was found, a scan found that this baby's aorta was already mildly narrowed, it can now be followed and treated if it gets worse.事实上,在发现这个突变后,扫描检查表明这个婴儿的主动脉已经出现轻度狭窄。如今可以进行随访监测,如果情况恶化,就能及时治疗。 Baby Cora, who's now almost nine years old, was found to have mutations suggestive of biotinidase deficiency, which is absolutely necessary for proper brain development. So she takes a simple dietary supplement every day that's kept her brain safe.科拉宝宝,如今已经快九岁了,她被发现携带提示生物素酶缺乏症的突变。这种酶对大脑正常发育至关重要。于是她每天服用一种简单的膳食补充剂,从而保护了她的大脑。 We give her a daily vitamin to treat her enzyme deficiency. We had to get creative at first, but now it's part of our routine. I'm just glad we discovered the conditions before there were any symptoms.我们每天给她服用维生素来治疗这种酶缺乏。一开始我们得想办法让她接受,但现在这已经成为生活的一部分。我很庆幸我们在症状出现之前就发现了这个问题。 And baby Jacob was one of four children who had mutations that created a predisposition for pediatric or adult onset cancers. Now, in his case, the gene was BRCA2 or “Broca” 2, and nobody in the family knew that it was present. When we found out, we traced it back to his mother, who was surprised but who could then take action.婴儿雅各布则是四个因基因突变而容易患儿科或成年期癌症的孩子之一。他的突变基因是 BRCA2(俗称“布罗卡2”),家里没人知道有这种基因存在。当我们发现后,追溯到他的母亲,她很惊讶,但随后能够采取应对措施。 It turns out that I ultimately was carrying a mutation. I had risk-reducing and ultimately life-saving surgery, and I believe it was the right decision so I could be present for my son.结果发现,我自己最终是这个基因突变的携带者。我接受了降低风险、最终挽救生命的手术。我相信这是一个正确的决定,因为这样我才能陪伴在儿子身边。 So how can we bring this to every family that wants this insight? Well, there is a newborn screening system around most of the world. It looks for, in the United States, up to 75 treatable conditions, mostly metabolic conditions.那么,我们该如何让每一个希望获得这种洞察的家庭都能受益呢?其实,在世界大多数国家和地区都有新生儿筛查系统。在美国,这种筛查可以检测多达75种可治疗的疾病,其中大多数是代谢性疾病。

    2 Min.
  5. VOR 5 TAGEN

    第2786期:The Life-saving Secrets In Your Baby(2)

    People were aghast. They thought we were going to do terrible medical things to these children. They thought there was going to be catastrophic psychological distress, and they thought we were going to spend all sorts of money. So we've spent ten yearsexquisitely studying the medical, behavioral and economic impact of newborn genetic sequencing. And we don't have all the answers yet, but I have to tell you that what we've discovered so far is pretty reassuring.↳人们当时都很震惊。他们以为我们要对这些孩子进行可怕的医学实验;他们以为这会带来灾难性的心理创伤;他们还以为我们会花费大量的金钱。于是,我们花了十年时间,精细地研究新生儿基因测序在医学、行为和经济上的影响。虽然我们还没有得到全部的答案,但到目前为止的发现已经相当令人安心。 Now, what was really surprising about this was what we found in these normal babies. If you take, let's say, 400 genes which represent conditions that are treatable today, absolutely treatable, in about 1,000 families, we found mutations in those genes in about four percent of these babies. Four percent.真正让人惊讶的是,我们在这些健康的新生儿中发现了什么。假设我们取大约400个基因,这些基因代表了当今可以明确治疗的疾病,在大约1000个家庭的新生儿中,我们发现约4%的婴儿携带这些基因的突变。4%! And if you expanded that gene list to be, let's say, 5,000 genes long, and that includes conditions that aren't treatable yet, conditions that maybe attack you in adulthood, we found an incredible 12 percent of these babies were carrying such mutations.如果把这个基因列表扩展到大约5000个基因,其中包括目前尚不可治疗、可能在成年后才会发病的疾病,那么我们发现竟有高达12%的婴儿携带这类突变。 Now, remember, that doesn't mean that all of these children are going to get the disease. But it does mean that if you know the risk that the children have, then your pediatrician and your family can be on the lookout for vague symptoms that would otherwise be overlooked.当然,请记住,这并不意味着所有这些孩子都会得病。但这确实意味着,如果你知道孩子所具有的风险,那么儿科医生和家人就可以提前留意一些本来可能被忽视的模糊症状。 This isn't a small problem. If this holds, that means in the United States, there are over 400,000 babies a year that will carry these risk mutations, and worldwide, that's over 15 million babies a year that will carry these risk mutations. It's kind of ironic, isn't it, because these are individually rare diseases, many of them you won't even have heard of, but together they are a massive medical problem.这可不是一个小问题。如果这个比例成立,那就意味着在美国,每年会有超过40万名婴儿携带这些风险突变;而在全球范围内,每年会有超过1500万名婴儿携带这些风险突变。这有点讽刺,不是吗?因为这些疾病单独来看都很罕见,许多甚至你从未听说过,但加在一起,它们却构成了一个巨大的医学难题。

    2 Min.
  6. VOR 6 TAGEN

    第2785期:The Life-saving Secrets In Your Baby(1)

    So on April 22, 2015, a four-day-old baby girl in Boston, let's call her baby Maria, became the first healthy infant in human history to have her genome comprehensively sequenced, comprehensively analyzed, as part of a clinical controlled trial in preventive genomics.2015年4月22日,在波士顿,一名只有四天大的女婴——我们姑且称她为玛丽亚宝宝——成为人类历史上第一位健康婴儿,她的基因组在一项预防性基因组学的临床对照试验中被全面测序并进行全面分析。 Now, why is this important? It's great to be first, but it's important because when children are ill, everybody's upset. But when children remain ill and doctors can't figure out what's going on, well, that casts their parents into a diagnostic odyssey that can take years and be incredibly agonizing. It can create all sorts of misunderstanding, misdiagnosis and mismanagement.那么,为什么这很重要呢?成为“第一”固然值得称道,但更重要的是,当孩子生病时,全家都会陷入焦虑。而当孩子长期患病而医生却无法找出病因时,父母就会踏上一段漫长而痛苦的“诊断奥德赛”,这种折磨可能持续多年。它会带来各种误解、误诊,甚至错误治疗。 Now, sometimes those children will go on to get genetic testing, and sometimes they'll find an answer. And sometimes those answers mean that you can treat the child, but by then it can be too late. The damage is permanent. This is particularly tragic because there are so many treatable genetic conditions today, and they're going to be even more with gene editing, cell and gene therapies. In fact, it's been suggested that over 90 percent of genetic conditions will be treatable in the next few years with gene editing.有时候,这些孩子最终会接受基因检测,有时候能找到答案。而有时这些答案意味着孩子是可以治疗的,但等到那时,往往已经为时已晚,损害不可逆转。这尤其令人痛心,因为如今已有许多遗传性疾病是可治疗的,而随着基因编辑、细胞与基因疗法的发展,可治疗的遗传病将会更多。事实上,有人预测,在未来几年内,超过90%的遗传性疾病都将通过基因编辑得到治疗。 So the key to this is obviously finding these children early, actually analyzing their DNA at or shortly after birth. And so ten years ago, I pulled together a team at Harvard Medical School, Mass General Brigham, Broad Institute, Ariadne Labs, and got together with a brilliant group of co-leaders: Alan Beggs, Amy McGuire, Heidi Rehm and Ingrid Holm. And together, we launched the BabySeq or Baby Sequencing Project, the world's first trial of newborn genomic sequencing.因此,关键显然在于尽早发现这些孩子,在出生时或出生后不久就对他们的DNA进行分析。于是十年前,我在哈佛医学院、麻省总医院、布罗德研究所和阿里阿德涅实验室组建了一支团队,并与一群杰出的共同领导者——艾伦·贝格斯、艾米·麦奎尔、海蒂·雷姆和英格丽德·霍尔姆——携手合作。我们共同启动了“婴儿基因组测序计划”(BabySeq Project),这是世界上第一个针对新生儿进行基因组测序的试验。 Now, when we presented this information at medical meetings, we didn't quite get the reaction we were hoping for.然而,当我们在医学会议上展示这些成果时,却并没有得到我们所期望的反应。

    2 Min.

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