The genetics of autism: HudsonAlpha investigator awarded research grant

Greg Cooper, PhD, a faculty investigator at HudsonAlpha, has been awarded an 18-month, $220,000 grant from the Simons Foundation Autism Research Initiative (SFARI) to identify new genetic risk factors for autism.

Autism is a complicated neurodevelopmental disorder. According to the National Institute of Neurological Disorders and Stroke, the characteristics of autism include repetitive patterns of behavior and difficulties communicating and interacting with others. The symptoms of autism appear in early childhood.

As part of the grant, Cooper will analyze whole genome sequencing data from 500 affected children, their parents and an unaffected sibling, known as a quartet. Often, Cooper says, in children with developmental delays who are born to unaffected parents, the child’s condition is the result of a genetic change that happened during egg or sperm formation. In those cases, Cooper can subtract the parents’ genetic information from the child’s. He is left with the changes that are prime suspects for causing the child’s symptoms.

Cooper’s team at HudsonAlpha will use the quartets to compare parents’ DNA to their affected child’s genome to find changes in the child’s genetic makeup — known as variants — that could be causing or contributing to the child’s autism. Then, that child’s DNA can be compared to his or her unaffected sibling’s DNA to help narrow down the variants even more. Over three million variants could exist in a single genome, so the family quartet structure helps focus researchers’ spotlights on changes that are unique to an affected child.

Cooper hopes the research funded by the SFARI grant will ultimately lead to better insights into the genetic and molecular mechanisms that contribute to autism and related conditions, improve diagnostic success rates and help guide further research to improve health and educational outcomes for children with autism and their families. Cooper’s research could have wide-reaching effects since one in every 68 children has an autism spectrum disorder, according to the Center for Disease Control and Prevention estimates.

“We were excited about the data set because it overlaps with our current research on intellectual disability and other developmental problems,” Cooper said. “The SFARI grant also facilitates important positive relationships with a wonderful group of investigators. I look forward to seeing what the data will reveal and to collaborating with the researchers that the Simons Foundation brings together.”

The Simons Foundation, based in New York, supports research in the basic sciences and mathematics. Its autism research initiative, SFARI, seeks to improve the understanding, diagnosis and treatment of autism spectrum disorders by funding innovative research.