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and the tiny NBA guard Earl Boykins).
While finding the variations that lead to height differences is an interesting question, Nickerson’s team is looking for small genetic variations that are more likely to generate interest from folks at places like Merck, Pfizer, or Roche. Specifically, the UW researchers are hunting for variations that affect our chances of getting diseases of the heart, lungs, or blood. Researchers want to know what happens when a C gets put in the place where a T ordinarily will be in the genome, or when one of those chemical bases gets inserted in the wrong place, or deleted when it shouldn’t be. Might these small changes in genetic code explain why some people can smoke and never get lung cancer, or why some can eat cheeseburgers regularly and never get high cholesterol that can lead to a heart attack or stroke?
It will probably take decades to answer ambitious questions like that, but the Northwest Genome Center is one of the few places in the U.S. equipped to tackle that kind of study. The speed and bandwidth of next-generation sequencing tools “has been a tremendous advance,” Nickerson says.
None of this is really possible without access to lots of human biological samples, with appropriate ethics approvals. Nickerson’s team is plowing through some of the deepest pools of samples biologists have. They include genomes from some of the 150,000 women who participated in the landmark Women’s Health Initiative, and some of the 250,000 people who have participated for decades in the famous Framingham Heart Study, who are from around Framingham, MA.
At the UW, samples are being studied from 8,000 individuals who participated in those studies, spitting out the gene sequence data, and trying to find a way to connect the dots between disruptions in genetics and the clinical symptoms of disease that a doctor sees. The center Nickerson leads is one of just two new sequencing centers being equipped with stimulus money (along with the Broad Institute of MIT and Harvard). UW hustled so hard for this stimulus cash that it found space for the Northwest Genome Center and outfitted it with the necessary air-conditioning in less than a month, Nickerson said.
Before getting too carried away with breathless anticipation of genomics, it’s worth noting that 10 years after the first draft of the Human Genome Project was completed it’s still staggering how little scientists know about the genome. Nickerson noted that there’s still no agreement on how many actual genes—which carry the instructions for proteins that carry out bodily functions—actually exist. The latest estimate is 20,000 genes. And while genes are in the “coding” regions of the genome, Nickerson said we know even less about the vast “non-coding” regions that don’t appear to have genes in them. How various environmental stimuli we encounter every day affect the expression of genes is something scientists know even less about.
It all sounds to me like something that will keep those genome scientists busy for a long, long time. “I could have had a stately mansion on Lake Washington instead of this, but I’d rather have this,” Nickerson joked.