Recommended by: Charles Lee, Harvard Medical School
Ryan Mills has gotten caught up in the frenetic activity of human genomics. He began his graduate career, which focused on gene prediction, as the draft of the human genome came out. The possibilities were endless, he says. As he started his first postdoc at Emory University, there was enough data to study variation between species like humans and chimpanzees. The HapMap Project was also taking off, and he says everybody was searching for SNPs. "And we were sort of like, well, we know there's these small insertions and deletions and at first glance, they seem to be quite prevalent. How does this fit into the story?" he says. "Everything grew from that and now I am looking at structural variation, which is, depending on semantics, just big indels. It's all stemmed from that."
Mills is now part of the 1,000 Genomes Project, which aims to catalog variation in a large population of healthy people. Getting that sort of basic information on variation, he says, is important before moving on. "You have to have a foundation, and I think that we're finally getting to the point where we have that foundation,"' he adds. The next step is to figure out what that variation means. "What does this do? How does this fit into the scheme of things?" Mills asks. "To me, that speaks of model organisms, functional studies, systems biology, and other ways to actually start to figure out what sort of functional stuff do these variants have and how if they are associated with a particular disease, how? And what can we delineate from that?"
Publication of note
Mills was the first author on the 1,000 Genomes Project's Nature paper that mapped copy-number variation in 185 human genomes. "In that paper we published the largest set of structural variation that's been published to date," he says, adding that "we were really able to take the 185 individuals, take their genomic sequences, and with pretty good accuracy figure out where they differed — 100 bases, 1 kb, 10 kb, 100 kb level — and we were able to identify really for the first time a large set of break-point sequences for these."
And the Nobel goes to…
"I hope it would be for something that not only adds to our fundamental understanding of science, but also has a direct application to improving the quality of life for people," Mills says. "What we do now is from a science perspective — which is great, pushing science forward is a noble goal — but many of us work in medical schools and at the end of the day you want to have a medical application, something that improves the quality of life for people."