Elena Tybulewicz

My DPhil project aims to develop gene editing strategies to treat surfactant protein C (SP-C) deficiency. This rare genetic lung condition causes inflammation and fibrosis of the lungs, with symptoms ranging from infant respiratory failure to chronic lung disease in adults.

I am developing base and prime editing strategies to correct disease-causing mutations in the SFTPC gene, alongside approaches aimed at inserting a functional copy of the gene into the genome to correct all disease-causing mutations.

This research is funded by the Wellcome Trust as part of the Genomic Medicine and Statistics DPhil programme.

Before joining the Gene Medicine Group, I completed a BSc in Biological Sciences at Durham University and an MSc in Human Molecular Genetics at Imperial College London. During my master’s dissertation, I worked in the Zhou Lab at University College London, developing n=1 splice-switching antisense oligonucleotide therapies for beta-propeller associated neurodegeneration (BPAN). I then continued this work as a research assistant in collaboration with the Nucleic Acid Therapies Accelerator, helping to progress these treatments towards therapeutic application.