How do genomes change during evolution? To what extent are mechanisms responsible for evolutionary changes also relevant to human disease? Much is understood about fine-scale genomic changes (e.g. point mutations), but the mechanisms of large-scale chromosomal rearrangements (inversion, translocation, fission and fusion) are still unknown. Large-scale chromosome changes are key events in speciation and cancer; therefore it is critical to define how they occur, and their impact on genome architecture.
One of the goals of my lab is to explore a mode of chromosome evolution in which the impairment of epigenetic repression of transposable elements causes a higher frequency of chromosomal rearrangements. Our long-term strategy is to use insights gleaned from species comparisons to understand the mechanism of chromosomal rearrangement in human disease. My lab will benefit from innovative technologies, as massively parallel sequencing, and will contribute to the development of new tools for data production and analysis.