The genetics of autism

Two new studies published today online in Nature identify genetic variations associated with autism. The studies were a collaboration of several scientific centers, and involved the genes of almost 11,000 people – making it the largest research project of its kind to date.

Listen: [audio:090428msautism.mp3]

In screening the human genome for possible mutations that could be associated with autism, researchers found a specific genetic variation located on a cluster between CDH10 and CDH9 in 65 percent of children with the disorder.

Study leader Dr. Hakon Hakonarson, director of the Center for Applied Genomics at of The Children’s Hospital of Philadelphia says this marks a fundamental change from previous findings, which detected rare variants that were present only in very few patients.

Hakonarson: This is the first time that a common variant is associated with this disease, and opens up a number of opportunities for future potential interventions.

Hakonarson says the part of the genome affected by the mutation is important in brain functioning. He says future studies will have to investigate ways to target and possibly correct gene variations. Hakonarson says this further confirms the importance of genetics in Autism:

Hakonarson: now we have suspected that based on how heritable autism is and we have now for the first time identified a common variant that firmly is established for autism and is present in approximately 65 of autistic children, so it’s very very common

Rachel Jackson, whose son has autism, says this research offers important clues to parents:

Jackson: I think everyone wants an answer I think there’s a panic out there whether or not it’s vaccines or what.

Jackson has two sons, they are both enrolled in a sibling study at The Children’s Hospital of Philadelphia.