BSc (Hons), MSc, DPhil
I completed my DPhil in the Department of Cardiovascular Medicine, University of Oxford, under the supervision of Dr. Matthew Daniels and Professor Edmond Walsh, developing microscopy-based methods for simultaneous phenotyping of calcium dynamics and mechanical behavior of cardiomyocytes.
My current research focuses on investigating the mechanism of disease in thick filament protein variants in hypertrophic cardiomyopathy (HCM) using human induced pluripotent stem cell (hiPSC) models. hiPSC cardiomyocytes closely model disease, but capture a neonatal phenotype rather that the desired representation of adult cardiomyocytes. I also work on developing more relevant models of disease via maturation of hiPSC-derived cardiomyocytes.
Hypertrophic cardiomyopathy (HCM) with a genetic link affects approximately 1 in 500 individuals. Of these, 60% of cases are caused by mutations in the thick filament proteins, which alters the characteristics of contraction in cardiomyocytes. Cardiomyocyte contraction is also governed by calcium. We therefore are interested in the calcium and contractile phenotype of cardiomyocytes in disease. My work focuses on microscopy-based functional phenotyping, and is underlied by CRISPR/Cas9 genetic engineering on hiPSCs for the generation of HCM disease variants. To bridge the gap between large dataset acquisition and analysis, I also work on generation of software for high-throughput analysis of both calcium and contractile phenotypes.
Robinson P. et al, (2023), J Mol Cell Cardiol, 180, 44 - 57
Margara F. et al, (2021), JOURNAL OF PHARMACOLOGICAL AND TOXICOLOGICAL METHODS, 111