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The Functional Perspective

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  • Title: Investigator, National Human Genome Research Institute
  • Education: PhD, Pennsylvania State University, 1998
  • Recommended by: Elaine Ostrander

Laura Elnitski will tell you that her early-career success comes from luck, but observers might notice that her status as a young but highly regarded investigator at the National Human Genome Research Institute stems instead from her hard work and ability to balance backgrounds in cell biology and computational biology.

Elnitski began her studies at Penn State, where she earned her PhD working in the molecular and cellular biology department with Ross Hardison and followed up there in a computationally focused postdoc with Webb Miller. As a member of Miller's group, Elnitski helped build a computational approach to modeling genome regulation. Using a pairwise alignment between human and mouse, the algorithm would "look at the entire genome and predict which regions looked more regulatory and which looked more like neutrally evolving sequences," she says.

In 2005, Elnitski headed to NHGRI, where she studies noncoding functional genomic elements. "The idea is to discover them and then to understand how the disruption of their sequences relates to human disease," she says. In her lab, she and her team are using both computational and experimental approaches to track various regulatory elements — such as promoters or exonic splicing enhancers — with the goal of better understanding whole classes of them. With that information, she could look for "similarities in them or features that we can capitalize on to use for future prediction and annotation," she says.

Her work is a natural fit with the ENCODE project, and Elnitski has been a member of the consortium for a number of different efforts. One project analyzes bidirectional promoters, which involves a lot of annotation but also may help scientists get a handle on tumor suppressors, since these promoters have been linked to regulation of these suppressor genes. In another project for ENCODE, Elnitski and her team are studying negative regulatory elements by developing "functional assays [and] screening sequences to find more of them," she says.

Looking ahead

As her work ramps up, Elnitski says she'd especially like to "tie in the epigenetic modifications on the DNA or histones to try and understand what are the characterizing features of each of these types of functional elements," she says. She expects that each cell type will have its own signature panel of epigenetic markings, and that being able to use next-gen sequencing will put scientists several steps closer to being able to figure out cell identity and how the genome is regulated. She and her team are already looking into methylation of promoter regions and how that phenomenon is linked to tumor cells.

Elnitski is also eager to move from what she calls the "linear perspective of the DNA" toward a more three-dimensional look at what's going on within the cell — but that's going to be a very significant effort, she says. "I won't get there by myself."

Publications of note

In a Genome Research paper from June entitled "Detection and characterization of silencers and enhancer-blockers in the greater CFTR locus," Elnitski and her colleagues demonstrate what she refers to as novel regulatory elements — that is, negative regulatory elements that have been undercharacterized so far, she says. She is involved with the ENCODE consortium on the project to assess and annotate negative regulatory elements.

And the Nobel goes to …

Were she to be preparing for a flight to Sweden, Elnitski says she hopes her accomplishment would be "having some impact into understanding the molecular mechanisms of cancer. I think that ultimately that would be a gift to the medical community and in its own way it would be a very important thing to me personally."

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