Defining the interrelation between patient phenotype and in-vitro cellular function, using clinical imaging data and patient derived induced pluripotent stem cell derived cardiomyocytes.
I am currently in my first year of a three-year DPhil in Medical Sciences at the University of Oxford, funded by the BHF CRE. My project focuses on inherited hypertrophic cardiomyopathy (HCM) and the use of patient derived iPSC derived cardiomyocytes to elucidate the role of disease-modifying genetic factors. Before coming to Oxford, I studied Genomic Medicine (MSc) at Imperial College London where I undertook a research project at the National Heart and Lung Institute (NHLI) focusing on the transcriptional profiling of endothelial cells in end-stage ischaemic cardiomyopathy. This research built on an interest in heart disease which I developed during a summer internship in the MRC Human Genetics Unit at The University of Edinburgh.
During the DPhil, I aim to further explore how factors such as background genetic variation, polygenic risk score and reduced (or incomplete) penetrance effect disease expression. Despite many variants having already been identified and linked to HCM, little is known about their disease mechanism(s). Presence of the same HCM variant in two separate individuals can result in one living a long and healthy life whilst the other suffers from severe heart failure at an early age. Through the study of disease-modifying genetic factors, I intend to provide insights into the pathomechanisms underlying HCM, ultimately leading to a more personalised approach to disease prediction, prevention, and treatment.