When Michael Giangregorio’s sons grow up, their father wants to be able to tell them that the autism now affecting the younger of the two, 5-year-old Nicholas, won’t be handed down to their children.
Doctors have long known autism runs in families. Now, scientists have scanned DNA from 1,168 families with multiple cases, the largest such group ever assembled, and identified gene variants that could one day spur treatments for a disorder that leaves about 1 in 150 U.S. children uncommunicative, cut off emotionally from the world around them.
The findings, announced Sunday, include a deleted gene, called neurexin 1, that enables communication between neurons, the nerve cells in the brain that transmit information to the body through chemical and electrical signals. The researchers also found variants in two chromosomes that have never before been linked with the spectrum of similar disorders that includes autism and Asperger’s syndrome.
“This is the most ambitious effort yet to find the locations of genes that may confer vulnerability to autism, revealing clues that will likely influence the direction of autism research for years to come,” said Elias Zerhouni, director of the U.S. National Institutes of Health in Bethesda, Md., in a statement Sunday.
The NIH helped sponsor the work done by 120 scientists and 50 institutions in 19 countries who began work in 2002, a group known as the Autism Genome Project Consortium.
The hope is that by mapping genetic flaws tied to the disorders, scientists will be able to better understand how they work and determine whether they can be fixed, said Bernie Devlin, associate professor of psychiatry and human genetics at the University of Pittsburgh, and an author of the study.
Giangregorio said he’s looking forward to a day “when my oldest comes to me and tells me he wants to get married. I’m hopeful that the work being done right now will enable me to tell him that ‘everything is going to be all right. We’ve figured this thing out.”‘
