Skip navigation

Calls to Action

Early Autism Risk Longitudinal Investigation to Expand Epigenetic Studies

April 15, 2010

April 15, 2010

The Early Autism Risk Longitudinal Investigation, or EARLI study, is in the process of recruiting over 1,200 mothers to follow from pregnancy through the new baby's first three years of life to examine a number of environmental risk factors for autism and their potential interplay with genetic factors. Launched in 2009, The EARLI study, funded in part by Autism Speaks and the National Institutes of Health, involves investigators from multiple sites across the country, including Drexel University, Johns Hopkins University/Kennedy Krieger Institute, Kaiser Permanente Northern California and the University of California at Davis.

In addition to looking at the DNA profiles of all family members, a new grant from the National Institute of Environmental Health Services will allow EARLI investigator Daniele Fallin, Ph.D. at the Johns Hopkins University Bloomberg School of Public Health, to test the hypothesis that autism related disorders have both a genetic and an epigenetic basis. Epigenetics refers to changes in gene expression that are not due to the DNA sequence itself, but rather to chemical or structural modifications of the DNA. These changes occur via processes such as methylation or chromatin modification. These modifications can “turn on” or “turn off” gene expression, which is critical for distinguishing different organs in the body and for triggering typical development. This field is exciting for autism because it may have implications not only for the genetic causes of autism but may also be a critical mediator of environmental risk factors for autism. Many environmental chemicals can affect epigenetic mechanisms and are thought to influence disease progression in this manner, including examples in cancer, obesity, diabetes and autism.

This new project will link data from pregnant mothers and newborns in the EARLI study and in the National Children's Study. Together, these cohorts will provide both an enriched autism sample and population representation, each with an extraordinary wealth of data across pregnancy and early childhood. In partnership with the Johns Hopkins University Center for Excellence in Genome Sciences (CEGS), comprehensive analysis of the epigenome will be performed, integrating information on environmental exposures and childhood outcomes. This project allows the first opportunity for longitudinal epigenetic measurement during pregnancy and in child-parent trios that also have extensive exposure documentation, genome-wide SNP data, and subsequent ASD-related phenotyping. The study will examine whether or not there are regions of the epigenome that are more susceptible to environmental insults, and if those epigenetic alterations affect developmental traits such as autism.

“Autism is such a mind-boggling diagnosis for a parent to receive about their child because there is no known cause, no cure and no known standard treatment,” says Amy Kelly, mother of three (two typical boys and a daughter with severe autism), and the EARLI Study community outreach coordinator for the Drexel University site. For parents like me, this research gives hope for answers that we have been asking for a long time, and could help us to help our affected children, and future children, so much more completely.” (Read a blog post by Amy about her work with the EARLI Study).

Because the risk of autism is much higher in children who have an older sibling on the spectrum, the EARLI study will recruit mothers who already have an older child affected by autism. As part of the study, investigators will be gathering information from medical records, self-reports, and biospecimens, and tracking children longitudinally so that trajectories in development are characterized. By studying mothers and children over time, researchers can better identify the early risk factors and markers of autism, as well as how children with autism develop and change behavior. Combining this with detailed information gathered from medical evaluations, blood, urine and hair samples, investigators in the EARLI study will develop a comprehensive picture of how and why genes and environment interact in behavioral development.

Investigators are seeking women who have one child affected by autism and are either pregnant or considering a new pregnancy to join this ambitious effort. If interested, please visit

Alternatively, the National Children's Study is also recruiting families not already affected by autism. For more information and to see if there is a site in your area, go to