Families needed as OHSU researchers join largest autism study in history
You only need to hear a few riffs to know Jonathan Chase has mastered the bass. Eighteen years ago, he was told this would never happen.
"I failed their fine motor skills test and they told my parents, 'He'll never work with his hands.' They said I'd never live alone, I'd never drive. I'd never have meaningful relationships," Chase said.
He was 14 at the time, and fortunately, knew better.
"One of the challenges in our community right now is how we lower expectations for people who are different," Chase said.
In his adult years, he's become an advocate for the disorder.
"Before I was diagnosed with autism, I could do anything. But the day that I was diagnosed they told me all that I'd never do," Chase said.
"There's the big potential benefit we can make for individuals with autism and their families by learning more about the condition and the biology," Dr. Brian O'Roak, an assistant professor of molecular and medical genetics at OHSU said.
He studies autism, and his research helped identify mutations in genes linked with autism.
"Where autism appears out of the blue, that about 30 percent of those families seem to have one of these new mutations, that's just occurred in the sperm or the egg," Dr. O'Roak explained.
As for the other 70 percent, scientists don't know what the other genetic or non-genetic risk factors might be. Simply put: they need more research. And to do that, they need more people to study.
"In this particular study that we're launching now, called SPARK, we're looking to partner with 50,000 families across the Unites States," he said.
The only requirement: an official autism diagnosis. Scientists need information. First, saliva - the DNA study will help them look at the genes and identify which ones are at high risk. Scientists will also ask families for medical history, and to fill out surveys on behavior like sleep issues, for example. This will create a data base allowing scientists to research all facets of autism.
"The hope is that by doing those types of studies that are targeted, we can have targeted interventions or programs for those individuals," Dr. O'Roak said.
This is a national effort with 21 clinical sites from coast to coast. OHSU is hoping to enroll a few thousands families in Oregon.
"We've never taken this step before. We've never looked at our community, our autism community as a whole," Chase said.
He is hopeful, "to make life better for those who come after us."