The Urban lab is investigating the effects of variation in human genomes on normal and abnormal brain development and function.
Complex behavioral and neuropsychiatric phenotypes often have a strong genetic component. This genetic component is often extremely complex and difficult to dissect. The current revolution in genome technology means we can avail ourselves to tools that make it possible for the first time, to begin understanding the complex genetic and epigenetic interactions at the basis of the human mind.
We develop and use next-generation sequencing and high-resolution array based methods to carry out functional genomic and epigenomic studies along several interrelated trajectories of investigation:
- Detection and characterization of genomic sequence variation associated with neuropsychiatric disorders such as schizophrenia and autism spectrum disorders
- Copy number and structural variants (CNV/SVs), their detection, exact mapping and their effects on multiple levels of molecular control and regulation (DNA methylation, chromatin conformation, gene expression patterns), using iPSC stem cell model systems
- Somatic genome and transcriptome variation, its detection, characterization and the elucidation of its functional consequences, in stem cell model systems and primary tissue samples