UCSF researchers on trail for autism treatments


The figures are even higher for boys, with 1 in 54 8-year-olds affected. Experts aren't exactly sure what's causing the rates to skyrocket, but they say better recognition, diagnosis, and more widespread screening are likely factors.

Meanwhile, researchers at UCSF are on the trail of potential treatments for autism. Right now they're studying the brains of people with a specific variety of the condition, in the hopes of finding new targets for drugs.

Researchers at UCSF want to study Chris Mahar's brain, because of something that's missing in his DNA -- a patch of genes known as 16p. It's the reason he was born with autism.

"What we know is that this genetic change on chromosome 16 is today the most common known cause of autism, but it only accounts for 1 percent of all cases of autism," said Elliott Sherr, M.D., from UCSF.

While 16p autism is relatively rare, Sherr says the fact that it's based on a gene mutation allows his team to study the role of genetics in passing on autism.

Chris' father, Rob, carries the same gene mutation as his son. He's also undergoing cognitive testing as well as brain imaging as part of the multi-generational study.

"Sometimes you have parents who are mildly affected and kids that are unfortunately more severely affected and that allows us to potentially chase the brain signatures by comparing parents to the kids," said Sherr.

Researchers say one hope is to identify pathways in the brain that might be targets for new drug therapies.

"This would be like the grand slam of the bottom of the 9th with the bases loaded," said Sherr.

Nearly half a dozen universities are participating in the study, making it one of the largest of its kind. The UCSF team is using social media to help solicit volunteers. Chris' family flew in from Oregon to participate. And while the chance of a short-term pay-back is slim any chance to help find new treatments for autism is worth it for the Mahars.

"It makes me feel great that I can help others," said Chris.

Researchers are still recruiting volunteers for the autism study.
Email: simonsvip@neurology.ucsf.edu
Phone: 415-502-0183

Written and produced by Tim Didion

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