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Uncovering the genetics behind autism and CHD could improve children’s health
Boston Children’s researchers want to see if there are genes that cause both autism spectrum disorder and congenital heart disease. (Image: Adobe Stock/Illustrations: Patrick Bibbins, Boston Children’s Hospital)
Cardiology and neurodevelopmental researchers have long speculated there could be genetic links that could cause both congenital heart disease (CHD) and autism spectrum disorder (ASD). A new study underway at Boston Children’s is trying to confirm any such association with the hope that new discoveries could lead to targeted treatments.
To have a broad understanding of the genetic mechanisms that are critical to both cardiovascular health and neurodevelopment, the study will look at the genetic profiles of children ages 2 and older who have ASD and severe CHD, as well as those diagnosed with neurodevelopmental disorders and mild CHD.
“Some children with both conditions were very sick as newborns, had operations, and were in intensive care,” says Amy Roberts, MD, co-director of the Center for Cardiovascular Genetics, one of the lead investigators of the study. “That history may have contributed, but there might be a genetic mechanism that led to both. That’s one of the questions we’re trying to answer.” Maya Chopra, MBBS, FRACP, a clinical geneticist with the hospital’s Rosamund Stone Zander Neuroscience Center, is the other lead investigator.
Read what’s driving this important research and what else the team hopes to discover.