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Autism Research Network Launches Major New Study

By Eddy Ball
July 2009

Early Autism Risk Longitudinal Investigation
(Logo courtesy of EARLI)

Craig Newschaffer, PH.D.
Newschaffer is the principal investigator on a grant administered by NIEHS. "We are casting a very broad net to collect exposure and genetic information in real time," he said of the strengths of working prospectively with a large enriched-risk cohort. (Photo courtesy of Drexel University)

Linda Birnbaum, Ph.D.
Birnbaum is NIEHS representative on the U.S. Department of Health and Human Services Interagency Autism Coordinating Committee (IACC) (http://www.iacc.hhs.gov/about/) Exit NIEHS. (Photo courtesy of Steve McCaw)

Cindy Lawler, Ph.D.
NIEHS Health Science Administrator Lawler, Ph.D., administers grants to EARLI and the M.I.N.D. Institute that are part of NIH support for the EARLI study. (Photo courtesy of Steve McCaw)

With financial support from NIEHS, three other NIH institutes and the private non-profit Autism Speaks, on June 9 a network of leading autism researchers from three regions across the country launched one of the largest research studies of its kind to investigate early risk factors for Autism Spectrum Disorders (ASD) during a phone-in press briefing. The study, known as the Early Autism Risk Longitudinal Investigation (EARLI) and led by NIEHS grantee and Drexel University Principal Investigator Craig Newschaffer, Ph.D., is one of eleven NIH Autism Centers of Excellence (ACE) (http://grants.nih.gov/grants/guide/notice-files/NOT-HD-06-004.html) Exit NIEHS projects nationwide.

The Drexel University School of Public Health (http://www.publichealth.drexel.edu/) Exit NIEHS in Philadelphia is the national coordinator of the EARLI Study network (http://www.earlistudy.org/) Exit NIEHS, which will follow an enriched-risk pregnancy cohort of up to 1,200 participants. The study is well equipped to look across time for biological and environmental markers for autism due to study's enriched-risk study design, extensive bio-sampling, wide ranging data collection, three-year follow-up period and multidisciplinary team of expert investigators.

"No other study can more comprehensively explore the impacts and interplay of environmental factors and genetic predisposition in the cause of autism," said Newschaffer (http://publichealth.drexel.edu/Academics/Faculty_Staff/Craig_J_Newschaffer_PhD/282/) Exit NIEHS, chair of the Department of Epidemiology and Biostatistics at the Drexel University School of Public Health. "Our approach is based on assessing potential autism risk factors through all-inclusive data collection that begins when a mother of a child with autism learns she is pregnant and continues through the early life of the new baby."

The local research sites for the study include Drexel University School of Public Health and Children's Hospital of Philadelphia (CHOP), University of California at Davis M.I.N.D. Institute (http://www.ucdmc.ucdavis.edu/mindinstitute/) Exit NIEHS, an NIEHS grantee, Johns Hopkins Bloomberg School of Public Health and the Kennedy Krieger Institute, and the Kaiser Permanente Division of Research in Oakland, Calif.

"This study has unprecedented potential to help answer many of the questions families affected by autism face everyday, including questions about the genetic and environmental factors that contribute to autism," said Linda Birnbaum, Ph.D. (http://www.niehs.nih.gov/about/od/director/index.cfm), director of NIEHS and the National Toxicology Program. "The EARLI Study is a very comprehensive investigation geared towards identifying early signs of autism and understanding its earliest possible causes."

Along with Newschaffer, participating in the telephone press briefing were epidemiologist Lisa A. Croen, Ph.D. (http://www.earlistudy.org/Investigators/22/#LC) Exit NIEHS, Kaiser Permanente; Associate Professor M. Daniele Fallin, Ph.D. (http://www.earlistudy.org/Investigators/22/#MDF) Exit NIEHS, Johns Hopkins Bloomberg School of Public Health; Professor Irva Hertz-Picciotto, Ph.D. (http://www.earlistudy.org/Investigators/22/#IHP) Exit NIEHS, University of California, Davis School of Medicine; National Institute of Mental Health (NIMH) (http://www.nimh.nih.gov/index.shtml) Exit NIEHS Director Thomas R. Insel, M.D.; Autism Speaks (http://www.autismspeaks.org/) Exit NIEHS Chief Science Officer Geraldine Dawson, Ph.D.; and Rebecca Landa, Ph.D. (http://www.earlistudy.org/Investigators/22/#RL) Exit NIEHS, of the Kennedy Krieger Institute Center for ASD and Related Disorders.

The EARLI Study is a public-private partnership supported by a $14 million Autism Centers of Excellence grant awarded by the NIEHS, NIMH, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (http://www.nichd.nih.gov/) Exit NIEHS and National Institute of Neurological Disorders and Stroke (NINDS) (http://www.ninds.nih.gov/) Exit NIEHS and a $2.5 million grant from Autism Speaks to the Drexel University School of Public Health.

Networking for a Large-Scale Epidemiological Study of Gene-Environment Interactions

The Early Autism Risk Longitudinal Investigation (EARLI) Network promises to pull together several lines of research from earlier CHARGE investigations and explore new directions in a ten-year study of mothers of autistic children and their newborn siblings that combines epidemiology and basic laboratory research. The network includes an administrative center at the Drexel University School of Public Health, a data coordinating center at the University of California, Davis, a central lab and repository at Johns Hopkins School of Public Health, and field sites in Philadelphia, Baltimore, the San Francisco Bay area and Davis, Calif.

The network plans to implement a core epidemiologic data collection protocol focusing on prospective documentation of exogenous exposures, continuous ASD behavioral domains during pregnancy and early life, collection and banking of biological samples, and follow-up of the newborn siblings through 36 months of age. Researchers will gather data on ASD diagnoses, continuous ASD behavioral domains and other behaviors that may be associated with ASD.

Principal Investigator Craig J. Newschaffer, Ph.D., of Drexel University, listed four "exemplary specific aims" to be addressed in the study:

  • Determine whether markers of maternal autoimmune status, measured during pregnancy, at delivery and at six months post-partum, are associated with autism risk
  • Determine whether in utero exposure to persistent organic pollutants is associated with autism risk
  • Explore maternal and child epigenetic marks as predictors of ASD risk
  • Assess whether polymorphisms, which may affect brain development, and in utero agonist exposure are associated with autism risk and explore potential interaction of genotype and exposure
  • Data collected in this large study are intended to serve as a resource for ongoing epidemiologic investigation of potential risk factors and risk biomarkers for ASD well into the future.


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