Overview

I graduated from University College London Medical School with Distinction in 2012. I undertook an Intercalated BSc in Human Genetics at UCL in 2009, and an MSc in Genomic Medicine at Imperial College London in 2016.

I completed the Academic Foundation Programme in Clinical Genetics and an Academic Clinical Fellowship (ACF) in Paediatrics at Imperial, then did a year-long Clinical Fellowship in Genomics at Great Ormond Street Hospital.

I am now in my second year of Clinical Genetics specialty training in Leeds.

PhD title

Developing variant interpretation pipelines for inherited retinal diseases and ciliopathies: using medical genomics to improve diagnostic yield

Brief summary of PhD project

Technological advances and falling costs of DNA sequencing mean that testing of whole genomes and exomes is now deliverable across mainstream medicine.

However, our ability to process and interpret genomic data is not as advanced, with around 20% of variants in disease-causing genes currently classified as variants of uncertain significance (VUS).

Furthermore, our understanding of non-coding DNA is limited, and variants in the non-coding genome are highly likely to provide explanations for many patients with unsolved genetic conditions.

Therefore, there is an urgent need to improve systems for genetic variant interpretation, to maximise diagnostic yield, scientific and clinical benefits from the available data.

In this PhD, I am developing genomic variant interpretation pipelines for inherited retinal diseases and ciliopathies. I am modelling clinically important VUS in genome edited cell-lines, then assessing functional impact on cell structure and function.

I am also utilising vast genomic, transcriptomic and epigenomic resources, including the 100,000 Genomes Project, to look for so far ‘hidden’ mutations in non-coding regions.

I anticipate that this project will improve diagnosis rates for patients with these conditions, and therefore facilitate increasingly personalised medicine. It should also provide insight into gene expression and regulation, and highly translatable knowledge and tools for genomic variant interpretation. 

Supervisors:

• Prof Colin Johnson (University of Leeds)
• Prof Chris Inglehearn (University of Leeds)
• Dr Carmel Toomes (University of Leeds)
• Prof Neil Hanley (University of Manchester)

Progress so far

Collaborating with Professor Ollie Blaque’s group, University College Dublin, to model TMEM67 variants in human retinal cells lines and C. elegans worms.

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