Among the mutations that each person has are some that render a copy or, even more rarely, both copies of a gene inactive. As more and more people hare having their genome sequenced, researchers are more easily able to uncover these natural "gene knockouts," Nature News reports.
"So much of what we know is based on mice and rats, and not humans," Massachusetts General Hospital's Daniel MacArthur says. "Now we can find people who actually have a particular gene inactivated or somehow modified, and that allows us to test hypotheses directly."
For instance, Nature News' Ewen Callaway says that MacArthur's group has already found that people without the LPA gene seem to be protected from heart disease. Another gene, PCSK9, has been linked to low cholesterol levels when knocked out, and Callaway notes that a drug targeting that gene is supposed to be coming out soon.
MacArthur's team released knockout and other data from about 63,000 last week that'll help push this natural knockout work along, Callaway adds.
"One of the first things I did when they released the data was to look at all my favorite genes for very severe diseases, to see if there are people in those databases — and there are," John Belmont from Baylor College of Medicine says, adding that he uncovered found 11 people with mutations associated with Marfan syndrome.