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Translating the Genetic Language of Autism into Treatment

Translational research aims to accelerate the pace at which basic research yields effective clinical treatments for human diseases by taking discoveries between “bench” and “bedside.” For instance, translational researchers have identified alterations in a growing number of genes linked to autism spectrum disorder (ASD), with the goal of enabling earlier diagnosis—when intervention can do the most good—and improved treatment.

Dr. Brett Abrahams

Brett Abrahams, Ph.D.

At the forefront of this effort is Dr. Brett Abrahams, assistant professor of genetics at YU’s Albert Einstein College of Medicine. His research correlates genetic variations that elevate autism risk with changes in brain structure and function.

ASD is a catchall term that describes an array of cognitive and behavioral disorders characterized by three symptoms: impaired social interaction, difficulty communicating, and restricted interests and repetitive behavior. An added complexity: The degree of impairment with each aspect (or “phenotype”) differentiates children with ASD from one another—even when they have the same genetic anomaly.

“Parents of children with autism know there isn’t just one form of autism and that each child is different,” said Abrahams. “We know that a huge number of genetic variants, both common and rare, are important. It also seems likely that environmental factors interact with these genetic risk factors to modulate risk and severity of symptoms,” he added. As he and other researchers elucidate the genetic and environmental mechanisms associated with individual autism phenotypes, Abrahams foresees that information about a patient’s own genome may in some cases be used to develop a personalized treatment program to improve cognitive and behavioral function. Read full article at Einstein News