Dr. Hannah Leeson specialises in using induced pluripotent stem cells as a model to study L1 retrotransposition events in Ataxia-Telangiectasia.

LINE-1 (L1) retrotransposons are mobile genetic elements that replicate by a ‘copy and paste’ mechanism, whereby the L1 is copied and then re-inserted into the DNA. This results in DNA damage at the re-insertion site. Patients with Ataxia Telangiectasia have a mutated version of the ATM gene, which is essential for the recognition of DNA damage. Mutations in the ATM gene prevent the repair of double strand DNA breaks, many of which may be caused by L1 retrotransposition events. We hypothesize that in the absence of a functional ATM protein, L1 retrotransposition events may go unchecked and unrepaired, and thus may contribute to the symptoms suffered by patients with Ataxia Telangiectasia.

Hannah completed her PhD at the Griffith Institute of Drug Discovery in 2018, where she studied purinergic signalling within the adult hippocampal and subventricular neurogenic niches, and specifically how the P2X7 receptor may regulate adult neural progenitor cells.