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For decades, biologists have studied gene function by inactivating the gene in question in mice and other lab animals, and then observing how it affects the organism. Now researchers studying such gene ‘knockouts’ have another, ideal model at their disposal: humans.
The approach does not involve genetically engineering mutant people in the lab, as is done in mice. Instead, researchers scan the genomes of thousands or millions of people, looking for naturally occurring mutations that inactivate a particular gene. By observing how these mutations affect health, researchers hope to gain insight into basic biology and to unearth new disease treatments.
Geneticists discussed several such large-scale efforts during a packed session at the American Society of Human Genetics meeting in San Diego, California, last week. “So much of what we know is based on mice and rats, and not humans,” says Daniel MacArthur, a genomicist at Massachusetts General Hospital in Boston, whose team identified around 200,000 variants that naturally knocked out genes by trawling the protein-coding portion of the genome, or exome, in more than 90,000 people. “Now we...