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A Goldmine for Genetic and Epidemiology Discovery: UPDB

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A Goldmine for Genetic and Epidemiology Discovery: UPDB

Apr 15, 2015

代表800万人连接超过2300万条记录,包括生命统计数据, medical records, and genealogical information - the Utah Population Database is the largest database of its kind in the U.S. Dr. 肯•史密斯, director of UPDB, explains how the database accelerates discovery of causes of genetic diseases and epidemiological phenomena, what makes the database unique, and how it figures in a rapidly changing genomics landscape.

Episode Transcript

Interviewer: 有人称它是世界上最丰富的深入信息来源,可用于推进研究和遗传学, epidemiology, and public health. We'll talk about the Utah Population Database, next on 范围.

播音员: Examining the latest research and telling you about the latest breakthroughs. The Science and 研究 Show is on 范围.

Interviewer: I'm talking with Dr. 肯•史密斯. He's not only Director of the Utah Population Database, but he's also a scientist that uses the database for his research. Dr. Smith, let's start this way. What is your favorite research that you've done using the Utah Population Database?

Dr. 史密斯: 我长期感兴趣的一个话题是大发娱乐如何繁殖和大发娱乐活多久之间的关系. 似乎能够在很晚的年龄生育的女性也更有可能活到100岁.

Interviewer: Oh interesting.

Dr. 史密斯: 这些女性能够活得很长,而且几乎所有迹象都表明,她们在老年生活得更好.

Interviewer: 这很有趣,因为这个数据库在使用上似乎非常通用.

Dr. 史密斯: 听起来不算太谦虚,但我认为数据库在大发娱乐大发娱乐了解许多疾病方面起到了革命性的作用. 由于犹他州人口数据库,在犹他州很容易就有30到50个重大的基因发现, in part or in full. 这些已经出现了,我认为它们是出版物和联邦研究资助的记分卡 . . . it's a very long list.

最著名的一个例子可能是关于乳腺癌和卵巢癌的. BRCA1和2的发现或者有些人说是BRCA1和2基因以及这些基因的突变. 它们使女性一生中患乳腺癌或卵巢癌的风险很高. BRCA1可能是最著名的例子之一但也有其他的结肠癌, and melanoma, and prostate cancer.

Interviewer: So tell me, what is the database?

Dr. 史密斯: Well certainly in the U.S. we are the only such database. So what it is, is a collection of data of genealogies, of medical records, of birth records, death records, information that will identify where people live, because we care about the environmental exposures. 所以所有这些数据来源都来自不同的机构他们都被授权收集这些信息.

So, 例如, 法律授权卫生部收集该州所有死亡和出生的信息. So that's something they must do. 他们也愿意和大发娱乐分享这些信息来做研究. The Utah Cancer Registry is another really good example. They're mandated to collect the information they shared. So we work with all these organizations and at the level of the individual. 因此,如果大发娱乐在一条记录中看到无名氏,大发娱乐可以在另一条记录中识别无名氏,这需要大量的工作来将这些记录放在一起.

Interviewer: I can imagine and how many records are we talking about?

Dr. 史密斯: It grows every day. 我今天给你的数字明天可能就错了但是大发娱乐数据库中目前的人数接近800万人.

Interviewer: 哇.

Dr. 史密斯: 这几乎是今天犹他州的每个人,对于他们中的一些人来说,他们与犹他州有一些家庭联系,然后他们也回到了犹他州. Our earliest record takes us back to the late 1600s.

Interviewer: You mentioned a little bit about genealogical data. How does that change what you can do with the data?

Dr. 史密斯: 这样大发娱乐就可以识别出那些家庭中有更多有趣和严重疾病的家庭. 了解这一点是一回事,但了解其遗传基础又是另一回事. So once we know about these families, then we have a mechanism where we're able to then recruit these individuals. And by recruit I mean we consent them. So obviously we have to get their permission. And then we're able to collect tissue, typically blood and from this tissue we're able to extract DNA. Now increasingly, partly because of the cost, and the infrastructure, we're able to sequence, to get all the letters of the genome for that individual identified.

一旦你得到了这些信息一旦你得到了很多人的信息有些人患有某种疾病有些人没有然后就知道了这些人之间的关系. Is it a mother daughter? Is it a couple of third cousins? 然后就有可能开始分离基因的实际位置或位置,这些基因可能是影响患病风险的因果基因. 因此,将家谱与医疗记录结合起来,有能力招募和同意,并收集DNA, 这是犹他州的制胜秘诀,能够为现在正在进行的令人难以置信的基因革命做出贡献.

Interviewer: And why is it that we have this genealogical information here, 但它不一定是全国其他大型数据库的组成部分?

Dr. 史密斯: 人们可能不会太惊讶,大发娱乐大发娱乐有一个教会,这个教会的一个方面是收集家谱信息,因为耶稣基督后期圣徒教会就在犹他州,在犹他州很重要, a lot of the data that they collect genealogically pertains to the state of Utah. 因此,通过犹他州家谱学会,大发娱乐已经能够把这个家谱追溯到很久以前,所以大发娱乐在这方面是独一无二的. I would add that is not the only way we get genealogy data. We construct our own genealogies from all the records that we collect.

Interviewer: But I couldn't look up my records using the Utah Population Database, could I?

Dr. 史密斯: 正确的. We are not a service for you to find Aunt Tilly in your family history. We're really for the medical research community. So we have many, 许多数据保护措施保护数据库中的数据和个人身份. So no, we don't allow individuals to get to the identifiers.

Interviewer: Is there anything else that you want to make sure to get in there?

Dr. 史密斯: 今后,大发娱乐希望为国家努力作出贡献,大发娱乐可以与其他组织合作,这些组织也在寻求确定这些重要疾病的致病基因. 我想说的是,大发娱乐是一个受欢迎的组织,大发娱乐是一个受欢迎的数据库,因为很难复制这些数据,很难从这些高风险家庭的丰富信息中得到这些数据. And yes these families largely live in Utah, but quite often they have . . . 大发娱乐都有亲戚,他们生活在世界各地,而这些人很可能携带着大发娱乐大发娱乐发现的基因.

因此,未来大发娱乐将努力扩大大发娱乐的家谱,以便能够与全国其他地区建立联系,这是大发娱乐刚刚开始的努力. 这将使大发娱乐能够在犹他州取得发现并将其与全国其他地区联系起来. So we are 3 million in Utah. We are 300 million in the United States. 因此,如果这300万可以通知3亿,那大发娱乐就真的做了一件伟大的事情.

播音员: Interesting, informative and all in the name of better health. This is 范围 Health Sciences Radio.