Autism Genes Unlock Disorder's Mystery

Genes implicated in autism may pave the way for new therapies.

July 10, 2008— -- New findings by Harvard researchers may bring families one step closer to discovering a cure for autism, a disorder shrouded in mystery.

Research published in the journal Science, today, reveals new genes that are implicated in autism. And the latest findings provide critical insight into how the disorder impacts children.

"We're now understanding from our study just what genes are involved," said Dr. Christopher Walsh, chief of genetics at Children's Hospital in Boston, who led the study. "We're finding the genes that are involved are those that are involved in learning. And we are understanding how these genes are abnormal."

As many as 1 in every 150 children in the United States has autism or an autism-related disorder, according to the CDC.

Three out of the five "autism genes" newly discovered in the lab are particularly intriguing.

Unlike some other defective genes linked to autism that are permanently disabled, the new genes are simply idle -- present, but not turned on for one reason or another.

"That gives us the potential, in the long run, to develop therapies that may be able to reactivate those genes that are silent," said Walsh.

Early research on mice and rats shows that gene "reactivation" is possible with mental stimulation, using toys, wheels and other devices.

Gene reactivation may now explain why early intensive therapies on children with autism can be so effective.

Dr. Gary Goldstein, a clinician at the Kennedy Krieger Institute in Baltimore, who uses behavior therapy in autism patients, said the findings are encouraging.

"I was excited by this paper; it shows why this could possibly work, why the early intervention works," he said. "It's because the genes that are underlying autism are capable of being turned back on."

For Diane Marshall, mother of 11-year-old autistic David, the newly-discovered genes validate the countless hours she has spent each week helping her son.

"It shows me he's learning, he can learn," she said. "It's not reinventing the wheel for him."

Now that researchers have identified the new genes that respond to intensive behavior therapy, the next step is to find medications that can perform the same task, faster and with better results.