Research presentations at Syracuse autism symposium connect scientists across disciplines – Auburn Citizen

SYRACUSE A conference held last week at SUNY Upstate Medical University in Syracuse brought together scientists studying autism from different aspects and emphases of the disorder in a way that will benefit one another's research.

That is what Dr. Brian Howell, a Skaneateles resident who researches autism as it relates to brain development at Upstate, observed following the two-day "Autism Symposium 2017: Where We Are, Where We Are Going" that he organized through Upstate's Department of Neuroscience & Physiology.

Calling the symposium a success, Howell said it was the first such event that tried to include the public along with the scientists. The first day which featured "Nightline" correspondent John Donvan speaking about changing attitudes about autism was geared toward the general public.

But, Howell said, some people came back for the second day when scientists from a variety of institutions and backgrounds came together to share their research in a series of presentations.

Those presentations included "a good mix of people that probably don't even necessarily go to the same meetings," Howell said, because of the differences in their disciplines.

"We got people talking across sub-fields in this area, so a lot of scientists said to me that they really appreciated this in terms of not only the science that they heard but also the interpersonal connections that they made," he said.

That goes for him and his department as well, he added. He and his team work with mouse genetics in their research but follow the research in human genetics. There is so much data out there, though, that one needs to be a computer specialist in order to use the data.

"For us, to meet some really good data miners, I think, will help drive our research that we now can set up some collaborations and look more closely at the human data and see how that might inform our work in mice," Howell said. "For me, probably the most benefit I got out of all this work is being able to call up people in different specialties and get their point of view on things."

Along with Donvan, the first day of talks included Dr. Stephan Sanders, from University of California San Francisco, discussing his work sequencing the genomes of thousands of families with autism spectrum disorder to look for gene mutations that might be able to predict autism in children.

Following Sanders, Dr. Arthur Beaudet, from Baylor College of Medicine, talked about a new technology he is developing a blood test for pregnant mothers to isolate fetal cells in the bloodstream, sequence those cells and look for mutations known to be predictors for autism.

On the second day of presentations:

Dr. Steven Hicks, of Penn State College of Medicine, talked about a start-up company, Motion Intelligence, that is developing a noninvasive oral swab to test children's saliva for signs of autism and determine a treatment program when early intervention is most effective.

Dr. Gahan Pandina, of Janssen Research & Development, a branch of Johnson & Johnson, presented on the Autism Anchor app that allows parents to document the behavior of their children with autism in order to provide clinicians with more information during appointments.

Dr. Joseph Dougherty, of Washington University in St. Louis, spoke about computer programs he is using to determine what brain regions and cell types are being impacted by autism and the databases that can put together mutations, cell types and brain regions involved in autism.

Dr. Janine LaSalle, of University of California Davis, highlighted the environmental factors that lead to autism, citing a study that found that prenatal exposure to polychlorinated biphenyls may cause a particular chromosome duplication that leads a child to develop autism.

Weirui Guo, from University of Texas Southwestern, shared his research about a sub-class of autism found in those with fragile X syndrome, a male-specific disorder caused by a defect in the X chromose that results in the overproduction of a certain protein.

Howell gave a presentation about the developmental genes with which he and his team work mice and how mutations in those genes might contribute to autism in both mice and people when autism, unlike mental retardation, does not present obvious brain defects.

As far as where the research in autism goes from here following the symposium both personally and in the wider community, Howell said he and his team hope to take a closer look at human genetics to complement their studies using mice but need partners to be able to do that.

"The human genetic data now, there's so much of it. It's in these massive databases that you basically need a computer degree to be able to access," he said. "We hope to reach out to the computer experts that we've met and mine the genetic data to see if we can develop networks of genes that are involved in autism."

He noted that there is no single mutation that causes autism, but a collection of mutations in an individual adds up to the disorder. Using human genetic data and testing that data in mice, his team might be able to figure out what series of mutations in people lead to autism.

"There are hundreds of genes that might make you at risk for autism, but no one mutation on its own is sufficient," Howell said.

Journal Editor Jonathan Monfiletto can be reached at jonathan.monfiletto@lee.net or (315) 283-1615. Follow him on Twitter @WOC_Monfiletto.

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Research presentations at Syracuse autism symposium connect scientists across disciplines - Auburn Citizen