Rhianna Rowland

Imaging agents for genetic disease: structural, chemical and cellular dissection

About me

Prior to my PhD I studied an Integrated Masters in Chemistry at the University of York. I completed a year in industry with Tracerco, a subdivision of Johnson Matthey, as part of my masters course, focusing on physical and analytical chemistry. Although this was a beneficial experience, I realised that analytical chemistry wasn’t for me and I was far more interested in biological chemistry and its applications to understanding human health and disease. I subsequently began searching for biochemical based PhD projects and was particularly interested in some of the structural biology projects available at the York Structural Biology Lab at the University of York. I was fortunate to find a PhD which bring together, chemical, biological and structural techniques to analyse lysosomal enzymes and their roles in lysosomal storage disorders. This PhD fitted perfectly with my desire to explore biological chemistry and its importance in understanding human health and disease.

My project

My project centralizes around lysosomal enzymes and their involvement in lysosomal storage diseases. Lysosomal storage disorders are a group of rare, inherited metabolic disorders which result from defective lysosomal function due to deficiencies in specific lysosomal enzymes. Of these disorders, Gaucher Disease and Fabry disease are the most common, subsequently, my project focuses on the lysosomal enzymes associated with these diseases. Currently, diagnostics for such diseases are sub-optimal and treatment is incredible costly.

Our objective is to use modern “activity-based probes” to image and analyse levels of these enzymes in cell extracts, use structure based design to improve the chemistry and selectivity of these compounds, apply these compounds in living cells in a diagnostic and therapy context and eventually extend these compounds for CryoEM tomography coupled to fluorescent imaging in
order to visualize active enzyme in the lysosome and track enzymes as they migrate through the cell compartments.


LinkedIn: https://www.linkedin.com/in/rhianna-rowland-576162107/