Geneticist Honored For Advancements In DNA Research

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Population geneticist Carlos Bustamante is among the 2010 winners of the prestigious MacArthur Fellowship. He was recognized for his work in mining DNA sequence data to address fundamental questions about the mechanisms of evolution, human genetic diversity and population migration. Host Michel Martin speaks with Bustamante about the work that led to the award.

MICHEL MARTIN, Host:

I'm Michel Martin and this is TELL ME MORE from NPR News.

We're friends, so you can admit this to me - are you a little tired of the holiday meals that taste the same year after year? Are you sick of the same old turkey, stuffing and greens? Well, we'll talk with the editor of Food and Wine magazine. She's edited a new cookbook that gives some tips on how to give those holiday classics a shot in the arm. We'll have that conversation in just a few minutes.

But first, our Wisdom Watch conversation. Today we wrap up our series with winners of this year's MacArthur Fellowships. Many people know them as the genius awards. They go to some of the brightest and most creative people in the country. Those whose work takes a fresh approach to social issues, art and science. The winners are as diverse in background as the disciplines for which they are recognized. And the award comes with a $500,000 prize to be used any way the recipients choose.

Joining us now is MacArthur fellow Carlos Bustamante. He's a population geneticist at Stanford University's School of Medicine. He was recognized for mining DNA data to address the mechanisms of evolution. The complex origins of human genetic diversity and patterns of population migration. He's with us now. Welcome and congratulations.

CARLOS BUSTAMANTE: Thank you so much. It's a real pleasure to be here telling you a little bit about the work that we do in my lab.

MARTIN: Well, first I have to ask what you were doing and how you found out that you had won this award. You can't apply for it. It comes as a surprise.

BUSTAMANTE: That's right. So, I actually had gotten back from our departmental retreat the night before. And so it's about 7 o'clock in the morning and the house phone rang and my son picked it up and he said, it's for you. And I picked it out and the voice said, hi, I'm calling from MacArthur Foundation. And I thought, OK, well, this is a weird time to be calling for a donation, but OK.

(SOUNDBITE OF LAUGHTER)

BUSTAMANTE: And they said, you know, are you familiar with the MacArthur Fellows Program? And the lights started to go on. I still wasn't sure if they were calling to, you know, maybe ask for a nomination or something like that. And I said, yeah, I'm familiar with it. And they said, congratulations. And I couldn't believe it. I sort of fell off my chair. And then they said to me, can we read back the biography that we have of you? And I said, sure.

And they said, Carlos J. Bustamante is a biophysicist at Berkeley. And my heart sank because there's actually a very famous Carlos Bustamante, who is a professor at Berkeley. And then they said...

MARTIN: But you aren't him. You're Carlos D. Bustamante.

BUSTAMANTE: Yeah, exactly. Right.

MARTIN: You're at Stanford. Oh, man. You're, like, oh no.

BUSTAMANTE: This can't be. And they said, I'm sorry, that was a mean joke. Congratulations. No, we really did mean you.

MARTIN: Oh, snap, they were playing a dozen. That is so cold.

(SOUNDBITE OF LAUGHTER)

MARTIN: Seven o'clock in the morning, they're playing the dozen. That is so wrong.

BUSTAMANTE: Yeah. Yeah. So it was like this - I said, this is - you could be, you know, be doing a study of sudden heart attacks here.

(SOUNDBITE OF LAUGHTER)

BUSTAMANTE: It was very nice.

MARTIN: Well, that's great. Well, congratulations. So, tell us about the work and tell us about the focus of your work. I've noted that you've been mining DNA sequence, particularly with ethnic minorities in the United States: Hispanic-Americans, African-Americans and Native Americans. What are trying to find out?

BUSTAMANTE: So we work on a variety of different populations. We work both on humans and non-human primates. We work on the animals and plants that we rely on for companionship and sustenance. So we've been particularly interested, recently, in developing genetic approaches, number one, for understanding events in deep human evolutionary time, so those wonderful events of migrations throughout human history that have not left a written record. And we'd love to understand how that process came about.

How do humans go out and make those migrations? When did we cross into the Americas? When did we populate Australia and so on? And oftentimes there's a real interest in merging the archeological data which at times can be sparse with genetic data. So we've been very interested in how to reconstruct evolutionary history both of humans and of the domesticated plants and animals that we now rely on because they're going to tell us about when and where different human cultures arose and spread.

MARTIN: And forgive me for asking in just this way, but this is the kind of thing where non-scientists wonder, why is that important? I mean, don't we just kind of broadly know what the patterns of human migration have been and when certain plants became domesticated and available for food and how certain animals - and so don't we kind of generally know the broad outlines? What else do we have? Mm-hmm.

BUSTAMANTE: We know the product. But the specifics are actually really important, oftentimes because the genetic changes that have occurred and mutations that have arisen during that time are often linked to important biomedical traits. So I'll give you one classic example, which is the ability to digest milk. And the only reason that there are humans that can digest milk is because a mutation arose and spread through that population because they were sort of dependent on that as a key food resource.

MARTIN: And how would that help us? Would that help us to figure out how we can ward off malnutrition, for example?

BUSTAMANTE: Sure. So there's, I think, a two-pronged reason. Number one, I think there is a tremendous move afoot to understand how genes and genetic variation contribute to disease susceptibility. So we know that many of the complex disorders that are the major causes of death and morbidity - heart disease, diabetes, hypertension - have some genetic component, okay? We don't know what the genes are that underlie most of the susceptibility, but the hope is if we can understand the genetic basis, then we can rationally develop drugs that target those genes.

And one of the things we've been very strong advocates of is in fact designing these studies so that they are ethnically diverse. It turns out that for historical reasons the populations that have been studied today have been mostly populations of European descent, and there have not been sufficient studies of African Americans, of Africans, of Hispanic Latinos, of Native Americans, even of East and South Asians. And so we've been developing and thinking about, well, what is the structure of genetic variation and how do we think about how those studies should be designed so that we can all benefit from genetic research? And then also trying to reach out to the community and get the message out that that people need to participate in biomedical research. If you don't participate, you won't be represented.

MARTIN: Can I ask you, and I have to ask, what do you think you'll do with the award money?

BUSTAMANTE: I think one of the things we will certainly do is use the money to foster and create new, diverse collections of samples that we can use for genetic research in new areas, something like that.

MARTIN: You mean you collections of DNA?

BUSTAMANTE: Yeah. Yeah. Yeah. And new projects (unintelligible) individuals of mixed ancestry. It's one of the things we're really interested in - how do we use genetic data to understand the last five and 600 years of history in the Americas?

MARTIN: Finally, before we let you go, we always like to ask, do you have some wisdom to share?

BUSTAMANTE: The first piece of advice I would give is to students, which is that finding a lifelong passion is really critical and important. You know, I feel, like I said, you know, I feel really lucky that I get to do what I love to do for a living. Academics can be a really, really wonderful life. I mean it can also be a kind of miserable life, right? So I think if you decide to go into it, I think you should go into it with eyes open and with an understanding. But I think you should definitely try out a bunch of different things, you know. And I guess the number one piece of advice would be find mentors. You know, I really firmly believe in that. And today I ask everybody for advice, you know, younger than me, older than me: How did you get to where you are? How do you, you know, what you think we should do? Where do you think we should go? You don't follow all the advice you get, but I think it's really, really critical.

MARTIN: Carlos D. Bustamante is a professor of genetics at Stanford University School of Medicine. He is a winner of a 2010 MacArthur Fellowship and he was kind enough to join us from Stanford.

Thank you so much for joining us, and congratulations once again.

BUSTAMANTE: Thank you so much.

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