
There is currently a widening gap between the tidal wave of gene discovery in neuropsychiatric conditions and our poor understanding of rare genomic variants' effects on cognitive, behavioral, and neuroimaging traits. Deleterious Single Nucleotide Variants (SNVs) and Copy Number Variants (CNVs) are identified in 5 to 40% of individuals with neuropsychiatric disorders. Still, little is known on how they confer risk to these conditions.
The lab is focussed on the growing need for large-scale, systematic, structured, and quantitative phenotypic and genomic research in rare genomic variants. We work with data collected by our group as well as collaborators, in individuals who carry specific high-risk factors for psychiatric conditions such as the 16p11.2, 1q21.1, 15q13.3. We also investigate genome-wide, the effects of rare recurrent and non-recurrent CNVs and SNVs on cognition and brain architecture.