The aim of our research is to understand the importance of genetic variation in human disease and evolution. We are mainly focusing on structural variation of the genome. This means that some DNA regions can occur in different number of copies (copy number variation, CNVs), in the reverse orientation (inversions) or be completely missing (deletions). This type of genetic variation is more common than previously appreciated but its role in human disease and evolution is still unclear.
We are using a combination of sequence based strategies, bioinfromatics and molecular biology techniques to study the variation in the human genome and the expression of genes. In one project we compare the variation that exists between the human and chimpanzee genomes. Our aim is to identify regions that have undergone drastic changes and therefore could be important for human speciation and human specific traits. In collaboration with the clinical genetics unit we are focusing on identification of causative genes in neuropsychiatric and developmental disorders such as Tourette syndrome, schizophrenia and intellectual disability
