Sofia Obolenski

PhD Student

I am interested in the development and application of multiplexed assays of variant effects (MAVEs) to systematically map the functional impact of mutations in tumour suppressor genes 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 combines wet-lab experiments with computational analysis to systematically characterise the functional consequences of genetic variation using saturation genome editing (SGE), linking variant effects to gene function to better understand how these variants impact telomere maintenance. Through this work, I aim advance our understanding of cancer biology and telomere-related degenerative disorders, while generating resources to support clinical interpretation and the development of targeted therapies.

My timeline

• PhD Student, Wellcome Sanger Institute/Leiden University

• MSc Biomedical Sciences, Maastricht University (research placements at the University of Oxford and Wellcome Sanger Institute)

• BSc in Biomedical Sciences, Maastricht University (research placements at the University of Exeter and the School of Oncology and Developmental Biology, Maastricht University)