Most of our genome is highly repetitive sequence derived from the activities of selfpropagating retrotransposons. Research in the Burns lab focuses on roles these mobile genetic elements play in human disease. Despite their enormous impact on genome composition over evolutionary time and across virtually all eukaryotic taxa, transposons are often presumed to be inert, non-functional ‘junk DNA’. Our work is challenging that assumption.

Our lab has pioneered methods for mapping transposable element insertion sites in the human genome, underscoring that these are a significant source of structural variation in human populations. We are also well known for our work describing the aberrant expression and activity of the long interspersed element-1 (LINE-1, L1) transposon in human cancers. We now envision L1 as both a ‘marker’ and ‘mutator’ in cancers. We are developing ultrasensitive methods to detect its open reading frame 1 protein (ORF1p) for applications in cancer diagnostics. We have several ongoing projects to understand the mutagenic mechanisms of the L1 open reading frame 2 protein (ORF2p), its contributions to genome instability in cancers, and its impact on cancer cell biology and tumor immunology. Finally, we are devising and implementing high throughput genetic and small molecule screens to develop new therapeutics based on our understanding of L1 biology.