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Ludmila Prokunina-Olsson: Downstream from GWAS

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Recommended by: Stephen Chanock,National Cancer Institute

Ludmila Prokunina-Olsson could have been a plant geneticist. Both of her parents worked as plant geneticists in Siberia in Russia, where she was born, and at age 16 she started working as a laboratory assistant in a plant genetics lab. But, she says, human genetics always held more appeal. "Plant genetics was something I could do immediately, but human genetics and the genetics of human diseases were always more interesting to me," she says.

That interest took her from Siberia to Moscow State University, then to Uppsala University in Sweden, and to the US, where she worked for three years with Francis Collins at the National Human Genome Research Institute. "His approach was, if you can convince me of a project, you can do it," Prokunina-Olsson says of Collins. "That is something that I am now trying to do with my fellows. Tell me this project is meaningful and interesting, and if you can convince me of it, let's do it."

Now an investigator at NCI, Prokunina-Olsson describes her focus as trying to put findings from genome-wide association studies in a biological context so that they can be applied in a clinical setting. "We work downstream from GWAS," she says. "The primary goal of my research is to identify the functional links between these genetic associations and molecular phenotypes, especially those that can be directly translated in new clinical tools."

Because GWAS have produced so much data, Prokunina-Olsson says her chief challenge is deciding what is important and setting priorities. "We can't possibly follow up on all of these interesting findings," she says. "I wish we could have more people doing this work, more hands, more approaches. There is so much information out there that we have to sort through the data to find the gold."

Looking ahead

Prokunina-Olsson says there is value in doing additional research on GWAS findings. "You can't take GWAS data and make quick judgments about what is useful and not useful," she says. "There are other technologies as exome and whole-genome sequencing, which are already generating a lot of data and interesting discoveries. These technologies are complementary to GWAS and don't have to compete. After all, we have to get through the same bottleneck of molecular and biological interpretation of these signals, no matter which method got us there."

And the Nobel goes to…

Prokunina-Olsson says that she would like to win the Nobel Prize for Medicine for the work she has done on the hepatitis C virus. And because she "misses Europe terribly," she probably wouldn't skip the awards ceremony in Stockholm.

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