#31: Autism: One Label, Many Diseases

By Kathleen McAuliffe|Thursday, December 16, 2010

People with autism are 
regularly lumped together and treated as a single group. But the world’s largest genetic study of the condition “shows that autism is many different diseases,” says Stanley Nelson, a professor of genetics and psychiatry at UCLA who collaborated on the investigation. “That insight should greatly enlighten how we think about autism and attempt to treat it.”

The study, conducted by a global consortium of 120 scientists, compared the genes of more than 1,000 autistic children with those of 1,300 youngsters unaffected by the disorder. As the researchers reported last July, the mutations associated with autism fall all over the map. “If 100 different kids with autism walked into a clinic,” Nelson says, “chances are they’d have 100 different genetic aberrations.”

Most of those aberrations occur in genes that affect the development and functioning of the brain. So far, about 10 percent of autism cases have been associated with genetic mutation, a figure Nelson predicts will rise as scientists study more genomes in greater detail.

The latest findings “move us closer to identifying underlying biochemical pathways involved in autism and set us up to develop better treatments,” says Bryan King, director of the Autism Center at Seattle Children’s Hospital. “We already have some candidate drugs that 
might potentially correct problems in these pathways.”

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