Genetic Epidemiology

Genetic Epidemiology is the scientific discipline that explores the familial distribution of human traits, in efforts that are strategically designed to optimize the ability to measure or infer genetic influence on those traits.  The SDS laboratory has developed and advanced methods for measuring variations in social development as quantitative traits, allowing patterns of transmission of inherited susceptibility to major neuropsychiatric disorders such as autistic syndromes, antisocial patterns of behavior, and other variations in social and emotional development to be traced in families and populations.  These studies have helped advance gene discovery efforts, with the goal of identifying new targets for both preventive intervention and for specific biological or developmental therapies.

Our work is predicated on the notion that genetic influences can only be accurately measured to the extent that they are expressed in people living in particular environments, and likewise that environmental factors must be understood in the context of how they affect people with particular genotypes, which can variously incur risk or resilience.  Our studies are focused on the early origins of major syndromes of social impairment in childhood and by design simultaneously consider genetic and environmental influences on developmental risk.  Our methods typically involve large samples of epidemiologically-ascertained twins, siblings, or families, in many cases enriched for key inherited or environmental factors of interest.

Current Studies

Sex-Specific Modulation of ASD Liability: Compensatory Mechanisms and Recurrence, is a grant of the IDDRC@WUSTL to study the mechanisms by which inherited susceptibility to Autism Spectrum Disorders results in less sever impairment in females than in males.

The Autism and Developmental Disabilities Monitoring Network, also known as ADDM, is a group of programs funded by the CDC to estimate the number of children  with autism spectrum disorder (ASD) and other developmental disabilities living in different areas of the United States. The goals of the ADDM Network are to describe the population of children with ASD, to compare how common ASD is in different areas of the country, to identify changes in ASD occurrence over time, and to understand the impact of ASD and related conditions in US communities.

The Study to Explore Early Development, is a multi-site, multi-year study funded by the Center for Disease Control. SEED looks at the physical and behavioral characteristics of children, age 2-5, with Autism Spectrum Disorder (ASD), children with developmental disabilities, and children without a developmental delay or disability. SEED is also interested in looking at health conditions among children with and without ASD as well as the factors associated with a child’s risk for developing ASD.

Early Quantitative Characterization of Reciprocal Social Behavior studies variations in the social development of toddlers (18-48 months old). This study looks at twins and children diagnosed with autism spectrum disorder to study the development of social reciprocal behaviors, specifically, visual social engagement. The information gathered in this study will help show the difference between the development of an unaffected child and one affected by ASD.

Autism Genetics, Phase II: Increasing Representation of Human Diversity, is a partnership with Dr. Daniel Geschwind of UCLA to increase the representation of African American individuals diagnosed with Autism Spectrum Disorders (ASD) in the Autism Genetic Resource Exchange (AGRE), and to better understand the barriers African-American families face during the process of receiving and ASD diagnosis and accessing treatments and care for their children.

A Longitudinal MRI Study of Infants At Risk for Autism is a partnership with Dr. Joseph Piven of the University of North Carolina to examine how brain structure changes during infancy (6 to 24 months) may signify the development of autistic traits.