你的蓝图:解锁全基因组测序的潜力
A genetic pioneer reveals what he learned from mapping his own genome.\r\n"}}" id="text-79da5db294" class="cmp-text">
基因先锋揭示了他从映射自己的基因组。
Howard J. Jacob, Ph.D., vice president and head of genomic research, AbbVie\r\n"}}" id="text-fe700b024c" class="cmp-text">
霍华德·j·雅各布博士,副总裁和基因组研究,AbbVie
Howard J. Jacob, Ph.D., was a member of the first team ever to use genome sequencing to diagnose, treat and cure a patient. It was 2009, and the patient was a 6-year-old whose symptoms baffled doctors for years. Working with scientists and physicians, Dr. Jacob’s team sequenced the boy’s DNA and diagnosed his rare disease, which allowed him to undergo a successful bone marrow transplant.\r\n
Almost a decade later, Dr. Jacob is using the same technology to potentially help millions of patients. As AbbVie’s new vice president and head of genomic research, he brings decades of genomic knowledge from academia and the clinic into the company’s labs. We spoke with Dr. Jacob about the current state of whole genome sequencing, and its potential for both patients and those simply interested in learning more about their “own personal blueprint.”
\r\n"}}" id="text-1ec4388803" class="cmp-text">霍华德·j·雅各布博士是第一个小组成员利用基因组测序诊断、治疗和治愈病人。那是2009年,症状的病人是一个6岁的医生多年的困惑。与科学家和医生合作,雅各布博士的研究小组和男孩的DNA测序诊断他的罕见的疾病,这让他接受一个成功的骨髓移植。
近十年之后,雅各布博士是使用相同的技术来帮助数以百万计的患者。作为AbbVie新任副总统和基因组研究,他把几十年的基因组知识从学术界和诊所到公司的实验室。我们采访了雅各布博士全基因组测序的当前状态,及其潜在的病人和那些仅仅感兴趣学习更多关于他们“自己的蓝图”。
什么是全基因组测序,这项技术如何帮助科学家发现新的治疗方法?
Jacob: Whole genome sequencing (WGS) is the process of reading a person’s DNA. This is a massive amount of data -- three billion chemical units in the DNA from your mom and another three billion chemical units in your DNA from your dad. The genetic information derived is essentially a personal health blueprint revealing potential disease risks, how you will react to certain treatments and more. When scientists look at these blueprints for millions of people, ultimately we hope to make new and better medicines.\r\n"}}" id="text-4034d55969" class="cmp-text">
雅各:全基因组测序(WGS)阅读的过程是一个人的DNA。这是一个巨大的数据量,三十亿化学单位从你妈妈和另一个三十亿年的DNA化学单位从你的爸爸你的DNA。的遗传信息本质上是一个个人健康蓝图揭示潜在的疾病风险,如何应对某些治疗等等。当科学家们看看这些蓝图数以百万计的人,最终我们希望让新的更好的药物。
你希望在AbbVie完成你的新角色?
Jacob: I hope to help more patients, perhaps whole classes of patients. After decades in a clinical setting, I will miss directly working with patients. But in many ways, I bring these patients with me into the research labs here, where I work with a large team to use DNA sequencing to determine what causes some of the world’s most challenging diseases.\r\n"}}" id="text-cb7c02e7d1" class="cmp-text">
雅各:我希望帮助更多的病人,也许整个类的患者。经过几十年在临床环境,我会想念直接和病人一起工作。但在许多方面,我将这些患者我进入这里的研究实验室,我工作的地方有一个很大的团队使用DNA测序确定什么导致了一些世界上最具挑战性的疾病。
全基因组测序(WGS)阅读的过程是一个人的DNA(来源:在上面)
全基因组测序似乎有用的疑似患者一种罕见的疾病。但是看似健康的人呢?
Jacob: Bridges are inspected using blueprints by structural engineers so they don’t fall down. What if doctors could use our personal blueprints the same way? Completing the mapping of the human genome in 2003 took more than a decade and one billion – and that was to map just one genome. Today, the same process takes a couple of days for a mere fraction of the cost. I would love to see a future where genomes are sequenced the day you are born so you know your risk of getting certain diseases, the best treatments to take and even which foods to eat to stay healthy.\r\n"}}" id="text-91a2f7884e" class="cmp-text">
雅各:桥梁检查使用蓝图由结构工程师这样它们就不会掉下来。如果医生可以利用我们的个人蓝图一样吗?完成人类基因组的映射在2003年花了超过十年和十亿年——这是一个基因组地图。今天,同样的过程需要几天远低于成本。我想看到一个未来,基因组测序你出生的那一天你知道你患某种疾病的风险,最好的治疗方法,甚至哪些食物吃来保持健康。
你自己的基因组测序吗?
Jacob: Of course! I would not let this technology pass me by. I discovered 50 common medicines that won’t work correctly for me based on my genetic makeup. I also modified my diet and reduced my chances of getting diabetes based on my results.\r\n"}}" id="text-6ba864a484" class="cmp-text">
雅各:当然!我不会让这种技术递给我。我发现50常见的药物不会正常工作为我根据我的基因构成。我也修改我的饮食和减少患糖尿病的机会根据我的结果。
基因组测序的未来什么?
Jacob: In 20 years, I hope WGS is like the internet -- a technology that changed everything and is something we can’t imagine life without. Then, maybe we will be talking about curing and preventing diseases along with new treatments that are tailored to fit the makeup of individual patients.\r\n"}}" id="text-8ad133a0f8" class="cmp-text">
雅各:在20年里,我希望WGS像互联网一样——技术,改变了一切,我们无法想象生活中没有的东西。然后,也许我们将谈论治疗和预防疾病的新疗法,根据适合个别病人的化妆。
如果你不选择科学作为自己的职业,你会做什么?
Jacob: Science, exploration and forging new ground was my world even as a kid. When I was 5 years old, Jacques Cousteau was my hero; later in college, I switched my focus from marine biology to pharmacology, which was the focus of my Ph.D.\r\n"}}" id="text-85cd174270" class="cmp-text">
雅各:科学,探索和建立新的地面即使作为一个孩子是我的世界。当我5岁时,雅克·库斯托是我的英雄;后来上大学的时候,我将重点从海洋生物学,药理学,我博士的焦点。
你的办公室的白板上写什么?
Jacob: Concepts for how we will use a million genomes to help discover new treatments. I want to use science and the latest cutting-edge technology available to help patients who need answers and new and better treatment options.\r\n"}}" id="text-b2704ee71a" class="cmp-text">
雅各:概念对于我们如何将使用一百万基因组帮助发现新的治疗方法。我想使用最新科学和尖端技术可以帮助病人需要答案,新的和更好的治疗方案。
Media inquiries:
\r\nJaquelin Finley
\r\nEmail: Jaquelin.finley@abbvie.com
\r\nCall: +1 847-937-4111\r\n"}}" id="text-1aba2af319" class="cmp-text">
\r\nJaquelin Finley
\r\nEmail: Jaquelin.finley@abbvie.com
\r\nCall: +1 847-937-4111\r\n"}}" id="text-1aba2af319" class="cmp-text">
媒体询问:
Jaquelin芬利
电子邮件:(电子邮件保护)
电话:+ 1 847-937-4111
外部链接
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