My DPhil project aims to exploit homology-independent targeted integration (HITI) for the treatment of disease. The main goal of this work is to improve gene therapy efficacy, allowing the treatment of genetic diseases, in particular those caused by a dominant gain-of-function mutation. The HITI approach is a form of gene editing, which allows simultaneous excision of dysfunctional genes and replacement with healthy copies to treat patients with specific genetic conditions.
In my current work, I am focusing on using HITI in the liver to treat alpha-1 antitrypsin (AAT) deficiency. AAT is a protein produced in the liver which protects our lungs; without it, the lungs can be damaged over time, contributing to the development of chronic obstructive pulmonary disease (COPD). This research is funded by an ABVIP studentship jointly funded by the Biological Sciences Research Council (BBSRC) and Oxford Biomedica.
Prior to joining the Gene Medicine Research group, I received an integrated Masters degree (MSci) in Molecular and Cellular Biology from The University of Glasgow. During my placement year, I worked with the Paul O’Gorman Institute to investigate links between patient prognosis and CML genetics. For my dissertation, I have discussed synthetic generation of bacteriophages. Finally, as my final year research project, I worked at the Glasgow Royal Infirmary investigating MDM2 and p53 in a transgenic SCC mouse model.