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Tuuli Lappalainen: The Workings of the Genome

Tuuli Lappalainen: The Workings of the Genome
Group leader, New York Genome Center
Assistant professor, Columbia University Medical Center
Recommended by Carlos Bustamante, Stanford University

Lappalainen.jpgTuuli Lappalainen wants to know how the human genome works, and how genetic variation leads to human variation.

"I've always been fascinated by understanding the big picture," Lappalainen said. "Rather than looking deep into one gene or one particular disease or one biological system, I wanted to understand the general patterns of how the genome works."

To do so, she focused on population genetics. Though she really wanted to look at genome-wide patterns, tools weren't quite in place to enable that when she pursued her master's degree. By the time, though, that she was working on her PhD that had changed, and she was able to examine eQTLs and look at gene expression in a genome-wide manner.

"Suddenly, I found myself in a situation where I was able to do the things that I wanted to do," she said.

Beginning in January, Lappalainen will be taking up a post at the New York Genome Center. There, she said, her lab will continue to study functional variation in the human genome. Lappalainen has been involved in a number of large consortia — the Geuvadis Project, GTEex, and 1000 Genomes Project — and she said that her lab would continue to participate in those types of projects. At the same time, though, it will focus on determining the functions of the variants mapped by those large groups.

In this field, Lappalainen said, there is a difficult balance between wanting to use the newest, most cutting-edge tools and taking the time to squeeze the most of the data that those tools amass. There's a tendency, she said, to skim the surface and move on to the next big technology. And that, she added, is a challenge to address.

Paper of note

Lappalainen was the first author on a Geuvadis consortium paper that came out in the fall in Nature. In it, she and her colleagues sequenced and analyzed mRNAs and small RNAs from lymphoblastoid cell lines from 462 research participants from five populations from the 1000 Genomes Project.

"This is the biggest integration thus far of genome sequencing and transcriptome sequencing data," she noted. "We can not only characterize general eQTLs, but where we can start to really get into causal variants in the genome and also understand the complexities of the transcriptome and genome and the interaction of the two."

Looking ahead

While Lappalainen said that large projects like the 1000 Genomes Project are necessary to generate large datasets and would continue in the future, she also noted the role for individual laboratories. Individual labs, she said, drive the application of those findings.

"OK, we have mapped these things and we can characterize the big genome-wide phenomenon, but then what do these variants mean in the context of specific diseases and also how can we leverage new emerging technology to understand these patterns further?" she said, adding that those are questions that single labs will be tackling in the future.

Lappalainen noted that she isn't focused on a specific disease. Rather, she is interested broadly in human variation. "I hope that the discoveries that I will be making in my career will have a big impact on human health, but I still hope that my main achievements will be in the more broad understanding of human biology rather curing any particular disease," she added.

This article has been updated to correct the name of the group involved in the Nature paper; it was the Geuvadis consortium.