Genome Plasticity and Disease Research

The Genome Plasticity and Disease Research Group seeks to understand the role of L1 retrotransposons, a type of “mobile DNA”, in causing genetic mosaicism in neurons. This variation may be a fundamental aspect of healthy brain function, and appears to change in neurological diseases, including Rett syndrome and schizophrenia.

The most important work from this Research Group has shown that endogenous L1 retrotransposition causes somatic genome mosaicism in the human brain. This is a novel source of molecular diversity in neurons that may impact how the brain functions. The Group also works on L1 retrotransposition in cancer, seeking particularly to understand the molecular processes underpinning liver and ovarian cancer, as well as early development, with a focus on how L1 activity may cause miscarriage or reduce female fertility with age.