In 1995, she and colleagues examined the brain stem of a woman with autism who had died in the 1970s. The brain stem had developed in a peculiar way, they found - as if a particular band of tissue had been removed and the adjacent areas had simply moved together. Rodier realized she had seen this pattern before, in a paper about mice with a disabled version of a gene that helps the brain stem develop. The next step was to inspect the human version of that gene, called HOXA1, in people. Rodier and colleagues reported in November that a particular version of the gene showed up in autism patients more often than predicted by chance, suggesting it may promote the disease.
Experts call the finding intriguing.
But they caution that, like all initial work, it has to be confirmed by further studies. Schellenberg and his collaborators have already begun that follow-up research. So now, more than a half-century after American psychiatrist Leo Kanner gave autism its name, researchers might be closer to the genetic roots of the disorder. And a quest that looked so deceptively easy just a few years ago might finally pay off.