genetics of macroscale brain structure

Genetic variants affecting the structure of the human brain may lead to increased risk for neurospsychiatric illnesses. We are an active member of the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) consortium, a multinational group of over 300 investigators contributing ~30,000 subjects for genome-wide association meta-analysis of human brain structure measured through MRI. Through our newly developed consortium, we identified the first highly significant and replicated common variants that influence macroscale brain structure. References of interest: Hibar et al., 2015; Stein et al., 2012; Thompson et al., 2014.

 

fidelity of Neural stem cell models

How similar are the cells in a dish to the actual developing human brain? We've developed a bioinformatic system using a rigorous genome-wide statistical framework to determine: (1) how well in vitro models match in vivo development, (2) what level of developmental maturity is achieved after differentiation, (3) what neuroanatomical identity is modeled, (4) what specific neurodevelopmental processes and molecular mechanisms are preserved, and (5) what specific aspects remain to be better modeled in vitro. Reference of interest: Stein et al., 2014.

 

Genetics of gene expression

Expression quantitative trait loci (eQTL) studies determine genetic variants that influence the expression of genes. We aim to create a map of genetic variants that influence expression of nearby genes during the development of the human cortex.