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Guided by the Y Chromosome

  • Title: Investigator, Wellcome Trust Sanger Institute
  • Education: PhD, University of Leicester, 1999
  • Recommended by: Steve Scherer

Were it not for the well-timed rise of understanding structural variation, Matthew Hurles might still be using genetic research to help a bunch of archaeologists learn more about prehistoric humans.

Unfortunately for the archaeologists, that was not to be. Hurles, who began his scientific career in genetics and was especially interested in the intricacies of the Y chromosome, had followed up his PhD with a fellowship at the University of Cambridge’s McDonald Institute for Archaeological Research. That’s not quite the leap it sounds — “I spent a lot of time looking at how you can use polymorphisms on the Y chromosome to … track human prehistory,” Hurles says. He especially enjoyed the diversity of scientists at the institute, where archaeologists, linguists, and geneticists worked closely to parse this period of human ancestry.

But Hurles was bound for more modern research. While at McDonald, “I became more and more interested in structural variation in the human genome,” he says. “It was something that you couldn’t really escape if you worked on the Y chromosome.”

In 2003, after completing work on a project identifying recombination between two duplicated Y chromosome sequences, Hurles headed for the Sanger Institute. The move was motivated by pragmatism: he knew that his goals in the structural variation field would require “access to the latest technologies,” and he thought Sanger was just the place for that.

Indeed, technology has played a crucial role in Hurles’ work. He remembers that when he started at Sanger, microarrays were mainly being used to look at cancer — and it wasn’t until the first seminal papers on copy number variation came out that it became clear how useful arrays could be for the field Hurles would pursue. “That’s when we initiated the copy number variation project,” he says. “From the outset we established a collaboration with Steve Scherer and Charles Lee,” two of the pioneers in the burgeoning structural variation community. So far, the project has published its first round of results, and Hurles and his collaborators are working on improving resolution and studying a number of populations.

Looking ahead

While recent copy number variation work has been on microarrays, Hurles believes that lower-cost sequencing will ultimately drive the field in that direction. Already, the copy number variation team at Sanger is making use of Illumina’s next-gen sequencers to add to their array data.

As for scientific direction, though, Hurles says that he expects the current spate of work in sporadic diseases to make way for increased focus on common diseases. “That’s something that we’re investigating here quite heavily — what’s the best way to interrogate structural variation and its role in common disease,” he says.

Publications of note

Hurles contributed to a paper published this October in Science (“Paired-end mapping reveals extensive structural variation in the human genome”) that utilized large-scale, paired-end mapping on a 454 sequencer to find structural variants at least 3 KB in size. The team determined that “the number of SVs among humans is much larger than initially hypothesized,” according to the paper’s abstract.

And the Nobel goes to…

Hurles is nothing if not creative. Asked what he would hope to win the Nobel for, he says, “I’d want to be accepting it for solving the energy crisis. That obviously isn’t going to happen, but I think it’d be pretty fundamental if I did.”

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