Researcher Wants to Untangle Environmental, Genetic Complexities of Autism

Associate professor Heather Volk of Johns Hopkins University has been researching how interactions between genetic factors such as mutations, and environmental factors, such as air pollution, cause autism spectrum disorder in children.

Volk’s focus is to understand how the environment affects children’s health and find ways to help children thrive by changing these environments. This differs slightly from research in the early 2000s, which focused more on getting to the bottom of what caused autism.

Recent data from the WHO estimates that globally, roughly 1 in 100 children has autism. Statistics also show that boys are almost four times more likely to be diagnosed with autism in comparison to girls.

Part of Volk’s research investigates how exposure to different environments in utero causes neurodevelopmental disorders later. For instance, Volk and her team discovered that mothers with a certain genetic variant who were exposed to greater air pollution levels associated with traffic while they were pregnant had a higher chance of having kids with autism spectrum disorder.

Separate research has observed a heightened ASD likelihood in children who had more exposure to ozone as well as more duplications or deletions in specific DNA regions.

Volk’s studies often depend on data from longitudinal studies such as EARLI, which has followed families with children with autism since the early 2000s. For instance, her team is collecting teeth from children in the aforementioned study in a bid to learn what contaminants they may have been exposed to during the gestation period.

Volk explained that contaminants often mineralize into the layers of the teeth, helping create a unique biological memory that stores records of past exposures.

EARLI also plans to help families adapt to autism diagnoses via discussions on navigating school and healthy lifestyles, among others.

Volk urges more colleagues to research how environmental toxicants and genetics interact to influence autism while also acknowledging the need for research infrastructure that is accommodating. She discussed how navigating the differences in research infrastructure would help move collaborations toward a common objective and help answer major questions in research.

Her current objective is to promote collaborative studies through GEARS with Christine Ladd-Acosta, PhD. Usig financing from the National Institute of Environmental Health Sciences, the National Institute of Neurological Disorders and Stroke and the National Institute of Child Health and Human Development, GEARs plans to combine data from 18 ongoing studies on population.

With a total of 175,000 participants, the researchers plan to conduct large-scale analyses of gene-environment interactions and autism.

This work is likely to add onto what is being done by publicly traded companies such as PaxMedica Inc. (NASDAQ: PXMD), which are focused on developing effective treatments targeting autism spectrum disorder in pediatric and adult populations.

NOTE TO INVESTORS: The latest news and updates relating to PaxMedica Inc. (NASDAQ: PXMD) are available in the company’s newsroom at

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