Autism Genes Implicated in Early Neural Development Discovered

Two recently published studies – the results of collaborative efforts of researchers from more than a dozen institutions, and led by Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia – have identified genes with important contributions to autism. One study pinpoints a gene region that may account for as many as 15 percent of autism cases, while another study identifies missing or duplicated stretches of DNA along two crucial gene pathways. In total, they analyzed DNA from 12,834 subjects. Significantly, both studies detected genes implicated in the development of brain circuitry in early childhood.

Because other autism researchers have made intriguing suggestions that autism arises from abnormal connections among brain cells during early development, it is very compelling to find evidence that mutations in genes involved in brain interconnections increase a child's risk of autism,” said study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia. By using highly automated genotyping tools that scan the entire genome of thousands of individuals, the researchers found that children with ASDs were more likely than healthy controls to have gene variants on a particular region of chromosome 5. Neuronal cell-adhesion molecules are important because they affect how nerve cells communicate with each other, thought to be an underlying problem in ASDs.

“Although we cannot immediately apply this research to clinical treatments, these findings increase our understanding of how autism spectrum disorders arise, and may in time foster the development of strategies for prevention and early treatment,” said developmental pediatrician Susan E. Levy, M.D., a co-author of both studies who is the medical director of the Regional Autism Center and a member of the Center for Autism Research (CAR), both at Children's Hospital.

Geri Dawson, Ph.D., chief science officer for Autism Speaks, appeared on the CBS Evening News and ABC World News on Tuesday, April 28, to discuss the studies. View the CBS story here and the ABC story here.