Uc Science Today

A new technique called exome sequencing is a revolutionary way to look at our DNA. This, according to psychiatrist Stephen Sanders of the University of California, San Francisco School of Medicine. Basically, it allows researchers to determine the structure of all expressed genes in a genome and recently, it helped UCSF scientists find mutations in a gene that triggers autism. “And that was a gene called SCN2A, which stands for Voltage Gated Sodium Channel 2 Alpha. When we saw that result, we were very excited, because we could show that this gene was associated with autism. It was playing an important role in what autism is on a neurological level.” Sanders and his colleagues found that people with autism have more S-C-N-2-A mutations, than those without this disease. “And before this technology it would have been impossible to have found enough mutations to work this out." Sanders says the next step will be to identify the specific type of the gene mutation and predict the severity of autism.