A mutation, called Fragile X, on the X chromosome can cause retardation and autism. Seen here, a microscopic visualization of X chromosomes.
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Scientific researchers can spend years in the lab on obscure topics, like how a sea slug remembers or how a fruit fly sees color. But every now and then, a basic scientist makes a discovery that changes human lives.
Mark Bear, who directs the Picower Institute for Learning and Memory at MIT, is one of those basic scientists. He's discovered a system in the brain that could change the lives of thousands of people with the genetic disorder known as Fragile X Syndrome.
Fragile X is a mutation on the X chromosome that can cause mental retardation and autism. Until now, there has been no treatment.
But Bear discovered that the mutation responsible for Fragile X appears to disrupt a system in the brain that regulates synapses — the connections between brain cells. He says the system works a bit like a car.
"You really need both the accelerator and the brake to properly function," Bear says. "In the case of Fragile X, it's like the brakes are missing. So even tapping the accelerator can have the car careening out of control."
Bear and other scientists have also identified several drugs that seem to correct the problem. The drugs don't replace the missing brakes in the brain. Instead, they limit acceleration by reducing the activity of a group of receptors on brain cells known as mGluR5 receptors.
The drugs have reversed most of the effects of Fragile X in mice. They are now being tried in humans. And at least one small study found that a single dose of a drug had an effect.
The implications for people with Fragile X are huge. If the drugs work, people with the disorder could see their IQs rise and their autism diminish.
"It's a dream come true to think that we have the prospect of having gone from really basic science discovery to a potential treatment," Bear says.
Bear's research was funded in part by a group called FRAXA. Katie Clapp and her husband, Michael Tranfaglia, started the group in the early 1990s as a way to help their son Andy, who has Fragile X Syndrome.
Clapp says she now has reason to hope that Andy, who is now 19, can get better.
"We're not expecting a miracle, or to make up for his 19 years of development," she says. "But if we can watch improvement happen, that's a dream."