Cathy Barr

Research Synopsis

Genetics studies of neuropsychiatric disorders, behaviour, dyslexia, specific cognitive processes, and learning and memory.

The focus of my research is the genetic study of behaviour, specific aspects of cognition, and psychiatric and neurological disorders for which a genetic predisposition has been established, including attention-deficit hyperactivity disorder, childhood-onset anxiety disorders, childhood-onset depression, reading disabilities (developmental dyslexia), and Tourette syndrome.

Numerous studies have implicated an imbalance in the neurotransmitter systems or neurological development for these disorders. We are able to test specific candidate genes from these systems by screening these genes for DNA changes that may contribute to the genetic predisposition.

We have identified a number of genes contributing to these disorders and molecular studies are in progress to understand the relationship of DNA variation in these genes to the development of the disorder. We have recently identified novel genes as associated to ADHD and reading disabilities and we are characterizing these genes.

For complex traits, it has been predicted that changes in gene expression are more likely to contribute to disease susceptibility than changes in the code for the protein sequence. For a number of the genes we have identified as susceptibility genes, we have ruled out changes in the coding region as contributing to risk, as thus we are now searching for the regions that control gene regulation. We recently used the position of transcription factors and modified histones to identify the position of regulatory elements for genes expressed in cell lines relevant to the nervous system and we are currently using a similar approach to identify regulatory elements for genes expressed in the brain. These genome-wide studies allow us to create maps for regulatory elements for all genes identified as contributing to neurological and psychiatric disorders.