IMM Conference Big Data: Professor Stephanie London

In utero exposures and DNA methylation profiles in offspring: maternal smoking as a test case

The focus will be on maternal smoking during pregnancy as a proof of principle of the usefulness of genome wide approaches to study epigenetic effects of in utero exposures.


  1. Background for studying in utero exposure and offspring methylation
  2. Initial studies of maternal smoking and genome wide methylation using the Illumina 450K platform
  3. Formation of the PACE Consortium and results of the smoking meta-analysis
  4. Methylation marks from smoking (and other exposure) – biomarkers or mediators?
  5. Brief summary of notable findings for other in utero environmental exposures in genome wide methylation studies
  6. Future promise

​Short biography

Stephanie J. London, M.D., Dr.P.H.
Principal Investigator and Deputy Chief, Epidemiology Branch

Dr. London is Senior Investigator and Deputy Chief of the Epidemiology Branch at the National Institute of Environmental Health Sciences. NIEHS. She holds a joint appointment in the NIEHS Immunity, Inflammation and Disease Laboratory. She earned her AB, MD and DrPH degrees from Harvard University and completed her residency in Internal Medicine at Massachusetts General Hospital. She was Assistant Professor in the Department of Preventive Medicine at the University of Southern California School of Medicine before coming to NIEHS in 1995.  Dr. London’s work focuses on the role of environmental and genomic factors in the etiology of respiratory health and diseases across the life course.

Dr. London has initiated and collaborated in national and international epidemiological studies on the impact of environmental exposures, nutrition, genetics and epigenetics on respiratory health.  Since 2008, her work has focused on genome-wide association approaches. She has extensive experience in genome wide association studies of pulmonary function, asthma and chronic obstructive pulmonary disease though her participation in international consortia and leadership of the CHARGE pulmonary group. Turning her attention to epigenetics, she published the first study to use the Illumina 450K methylation platform to examine any in utero exposure and identified numerous loci differentially in response to maternal smoking in pregnancy. To begin to follow-up these findings and extend them to other exposures and outcomes, she formed a consortium of birth and childhood cohorts with genome wide  methylation data known as  PACE (Pregnancy and Child Epigenetics).