The age of the genome

From Floreat Domus Issue: 
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There can be no question that we are living in the age of the genome. “All the information that makes a human being is encoded in our genome, which can be represented ‘simply’ by a three billion long string of A, T, G or C”, explains Old Member Ewan Birney (1992). But this is only the beginning of the story.

[Ewan Birney]
Ewan Birney

Birney, who has made his name in the field of bioinformatics, is driven by the simple question: “How do we ‘translate’ those A, T, G and Cs into the incredible complexity one sees in each person?”

[Computer Processing]

This sort of research has led to the use of terms like ‘the post-genomic age’. Once we have a genome, what do we do with it?

Birney, who is currently a senior scientist at the European Molecular Biology Laboratory (EMBL), working at the European Bioinformatics Institute (EBI), explains as follows: “This is the core of my research, and it is heavily computer based. The key aspect we leverage is that once we know something in another organism, if one can reliably detect its presence in the ‘same’ region in human, one can map the information from that other organism (usually mouse, rat, zebra fish, fruit fly, or the worm C. elegans) on to human. The problem is that to detect things sensibly one needs quite sophisticated computational techniques.”

The art of extracting useful biological information from vast tracts of data is the bread and butter of the field of bioinformatics.

Crunching the numbers

[Ewan Birney quote]

Although Birney read Biochemistry as an undergraduate, he had started to work with computer algorithms for biological problems even before he came up to Balliol. Now the need for such approaches is greater than ever, as data that needs crunching keeps coming in. He says: “Recently, projects that aim to provide an in-depth view of the differences between individuals have started in earnest, with the flagship ‘1,000 genomes’ project the first in a new era. The data volumes here are huge, with as much DNA data being produced in the first three weeks of this project as was produced in the previous thirty years.”

Medical applications are not far off. “Our work underpins genomics, and genomics is getting closer and closer to the clinic”, Birney explains. “The use of gene expression chips will provide more information on the severity of cancers, and thus help inform the sort of treatment a patient will receive. In addition, genome-wide association studies which find (usually weak) risk associations between particular genetic variants in the population and common disease, can be used to help inform health decisions.”

A particular focus of Birney’s research concerns the way in which genes get switched on and off – one of the least understood areas of the genome. He comments: “Interestingly, recent work by one of my graduate students is finding surprising similarities with integrated circuit design. There are lots of unanswered questions in this field, so it is a good area to do research!”

Much of modern science is done on a huge scale. Birney currently jointly runs a team of 160 people. “Most of my time”, he says, “is spent working more strategically, and probably the most important thing I do is hire and help coach really talented people under me.” Despite this, he stills find time to carry out cutting-edge research of his own, for which his much larger team helps provide services. At some point in the future, Birney hopes to return to full-time research, but, as he explains, “at the moment, there is just too much to do.”