I am interested in the development and application of multiplexed assays of variant effects (MAVEs) to systematically map the functional impact of mutations in genes implicated in cancer and uncover clinically relevant vulnerabilities.
I am a final-year PhD student in cancer genetics studying how mutations in telomere maintenance genes, with a particular focus on the Shelterin components POT1 and TINF2, drive cancer development. My research integrates wet-lab experiments and computational analysis to systematically characterise how genetic variation affects gene function using saturation genome editing (SGE). This approach helps reveal the impact of genetic variants on telomere maintenance and cellular function. Through this work, I aim to advance our understanding of cancer biology and telomere-related degenerative disorders, while generating resources to support clinical interpretation and the development of targeted therapies.