Skip to main content

Studies Currently Enrolling Participants

Family study of phenotypic variability in children with neurogenetic developmental disorders

A family of four. Two parents and two siblings.

This study collects parent and sibling genetic and behavioral data from families of children with fragile x syndrome and infants with down syndrome. Despite a known genetic cause for each syndrome, large clinical variability exists among children with both syndromes, suggesting an important role for genetic background in shaping child outcomes. We hope to investigate relationships between family traits and traits in children with fragile x and down syndrome, which may influence better targeted and more personalized intervention strategies. Participants in this study are recruited through participation in two parent studies from our research group.

Examining mechanisms of brain development in autism through the study of iPS Cells

iPSC generation and differentiation following participant blood draw will allow for a comparison of markers of neural proliferation between individuals with ASD and their uneffected siblings. Behavioral assessments and questionnaire data will allow us to relate neural proliferation to individual differences in social behavior and verbal cognition. Participants of this study are older siblings of children participating in school-age visits of our nationwide investigation of children with a higher relative chance of developing autism, the Infant Brain Imaging Study.

infographic showing the process of creating a brain organoid from a blood sample.
Collect blood sample; Isolate blood cells; Change into iPS cells; Influence iPS cells to become premature brain cells; Study the development of neurons

Organization for Imaging Genomics in Infancy (ORIGINs)

As part of the ORIGINs working group in collaboration with investigators from different centers around the world who are actively engaged in neuroimaging research in infancy and early childhood, our lab is collecting saliva DNA from participants of the Infant Brain Imaging Study. The overarching goal of ORGINs is to determine how genetic and environmental factors influence the development of brain morphometry, anatomical and functional connectivity, and cognitive and emotional function from birth to age 6.

(image credit: Alex, A. M., Buss, C., Davis, E. P., de Los Campos, G., Donald, K. A., Fair, D. A., … & Knickmeyer, R. (2023). Genetic influences on the developing young brain and risk for neuropsychiatric disorders. Biological Psychiatry93(10), 905-920.)

Studies In Data Analysis

Genetic liability for autism and infant brain and behavioral development

ASD is highly heritable and the majority of ASD cases are due to inherited, common polygenic variation. Prospective studies following infant-siblings of older children with ASD, who are at an increased likelihood of developing ASD themselves, have detailed aberrant brain and behavioral trajectories beginning as early as 6 months of age in both infants that go on to develop ASD (20%) and 30% of the at-risk infants who do not develop ASD. This suggests that genetic liability for ASD likely influences brain and behavioral development in a graded fashion; yet, to date, there have been no studies relating quantifiable genetic liability for ASD to infant development. Given that the first year of life marks a highly plastic period of brain development that precedes the emergence of the diagnostic features of ASD, determining mechanisms of action and targeting interventions to this developmental period could yield optimal outcomes. The goal of the current project is to determine if brain and behavioral development in infancy and toddlerhood are affected by genetic liability for ASD, as measured by inherited quantitative autistic traits (QAT) in parents and older probands and infant polygenic risk scores (PRS) reflecting cumulative risk genes associated with ASD. Additionally, the nature of associations between brain and behavioral intermediate ASD phenotypes from 6 months to 24 months of age will be characterized.

Familial factors that drive behavioral development and ASD

The purpose of this project funded by the Autism Science Foundation is to curate a database of behavioral assessment data from children with autism spectrum disorder who participated in research studies which are part of the Baby Siblings Research Consortium (BSRC). De-identified data from different research sites will be collected, cleaned, and combined for use in data analysis. This project will allow researchers to do higher-powered studies of children with autism by combining data from many research participants across different studies.