Overview

Cohort: 7
PhD start date: August 2023

I am a Specialty Registrar in Ophthalmology, PhD candidate in Genomic Medicine, and holder of a Wellcome 4Ward North Fellowship at the National Renal and Complement Therapeutics Centre (NRCTC) in Newcastle.

I graduated in medicine at The University of Edinburgh where I spent my summers exploring retinal biomarkers for kidney disease under the supervision of Professor David Webb. Keen to continue my research, I approached Professors Steel and Kavanagh to complete Academic Foundation Programme and National Institute for Health and Care Research (NIHR) Academic Clinical Fellowship posts at the NRCTC.

During this time, I helped set up the first national retinal screening service for complement-mediated kidney conditions. Working alongside renowned statistical geneticist Professor Cordell, my work using the UK Biobank led me to an interesting finding. I discovered that healthy people with rare variants in a gene that controls complement activity (CFI) have thinner retinas, regardless of their medical history or other genetic factors.

I am now excited to explore new genotype-phenotype correlations in this cohort, and collaborate with Professor Lennon, a leading expert in basement membrane matrix interactions, to gain a deeper understanding of rare complement variant activity in retinal disease.

I hold postgraduate qualifications in Genomic Medicine, Clinical Research, and Leadership and Management. I am also the trainee lead for Ophthalmology research in the North East. For a full list of my publications please refer to my Google Scholar Profile.

PhD title

Uncovering the role of complement regulation in macular degeneration: a genomic and functional analysis using the UK biobank.

Brief summary of PhD project

Age-related macular degeneration (AMD) is a leading cause of sight loss worldwide, but we still lack effective treatments for most people. Currently, the big question in AMD research is who will benefit from complement inhibition and when to start treatment. To answer this, I propose that rare variants in key complement genes are functionally significant and lead to retinal thinning long before the onset of AMD.

Key collaborators

• David Steel, Honorary Professor of Retinal Surgery (Newcastle University)
• David Kavanagh, Professor of Complement Therapeutics and Director of the NRCTC (Newcastle University)
• Heather Cordell, Professor of Statistical Genetics (Newcastle University)
• Rachel Lennon, Professor of Nephrology and Director of the Wellcome Centre for Cell-Matrix Research (The University of Manchester)

Specialty interest

I enjoy a variety of wet- and dry-lab work and am particularly interested in integrating these approaches to answer challenging clinical questions. My current focus is on understanding how complement proteins interact with each other and matrix to influence AMD risk. To do this, I am developing skills in advanced genetic analysis software, recombinant protein expression, and novel immunology assays.

Career aspirations

To run a research group studying molecular mechanisms and developing treatments for retinal diseases, focusing on the role of complement pathways, alongside my clinical practice.

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