Mriganka Sur is a basic scientist, but a growing focus on autism has brought him in touch with children affected by the dread ailment. The kids he has met show the familiar symptoms: an inability to forge strong social ties, trouble communicating, and repetitive behavior — obsessively spinning the wheels on a toy truck, for example. But some also display symptoms that, while less familiar, are of special interest to Sur. Human vision is one of his concerns, and he’s been struck by how these children look at things. “When most of us talk to someone, we scan their faces for emotions and reactions,” he says. “When an autistic child talks to someone, he might stare at a speck on the wall.”
What has particularly affected Sur, though, is the character of the individuals he has met. “I’ve been really impressed by the patience and dedication of the parents,” he notes. As for the children, most are well aware their behavior doesn’t really “work,” and many have been ostracized or worse. Still, he says, “they try hard to do the best they can. I’ve been blown away by their resilience.”
It’s thought that a million or more individuals in the U.S. suffer from autism, which is usually diagnosed around age 2. And despite the fact that there’s been progress on mitigating symptoms in some sufferers, it’s incurable.
But Sur, whose main interest is how the young brain develops, sees grounds for hope. He and colleagues in his department are already working with doctors at Children’s Hospital in Boston on autism and other developmental disorders. Now, he’s leading a parallel effort focused solely on autism. Among its goals is not only getting at issues like the genetic roots of autism but also seeking to set the stage for drug-based therapies.
TWINS TELL A STORY
Though autism’s causes are murky, one fact about the syndrome is clear: it runs in families. “People have studied identical twins,” says Sur, “and they’ve found that if one twin is affected, the chances the other will also be autistic is 80 to 90 percent.”
Unlike, say, some types of breast cancer, though, autism seems to be linked to several defective genes, not one primary gene, and that complicates the job facing scientific detectives. They must try not only to spot the genetic culprits but also to pinpoint the ring-leaders among them.
Still, the fact that multiple genes are at work doesn’t rule out progress, says Sur.
For one thing, definitively linking a single gene to a syndrome like autism, while not offering comprehensive answers on causes, still sheds valuable light. “There’s a gene my lab has been studying that’s possibly involved in controlling eye movements,” notes Sur. “This gene is related to a gene associated with autism, so we want to study this gene in a deep way.”
Also helpful is the growing evidence that autism reflects an imbalance in the brain’s operations.
In a phenomenon that vaguely resembles how a car responds to the effects of its acceleration system and its brakes, brain cells are subject to electrical inputs that can either excite the cells or quiet them. Many of the genes tentatively linked to autism, notes Sur, “seem to regulate inhibition.” So that means researchers can train their sights on the brain’s inhibitory pathways.
MUCH TO BE DONE
The MIT group’s goals, besides focusing on autism-related genes, include studying people affected by the syndrome. Sophisticated brain scans, for example, can help detail how an autistic child’s visual machinery processes, say, images of faces. Combined with the work in genetics and other areas, this could lead to better diagnostic methods.
“One of the goals of both our brain measurement studies and our genetic work is to make possible earlier diagnosis,” says Sur. That matters because it increasingly appears that treating children early boosts the odds of mitigating autism’s effects.
As for specific drug treatments, Sur chooses his words carefully. If it were to turn out that one particular brain chemical has a dominant role in autism, he says by way of example, “that might give you the chance to alter the balance between excitation and inhibition in a good way.”
That’s a significant “if.” But in any case, Sur is convinced MIT brings valuable resources to the struggle against autism.
The Institute’s strengths in areas like genetics — and in the computer methodologies you need to help figure out the complex interplay among several genes — in brain imaging, and in creating and working with animal models of disease are all critical. He adds that the Institute’s researchers also have ample opportunities to collaborate with some of the world’s best physician-scientists on the work.
Not only does MIT have vital resources, he adds, it also has much to gain in helping to combat a tragic ailment. “Autism is a terrible condition,” he notes, “and if we can make a difference, we’ll be doing a great social good.”