I am a PhD Student in Human Genetics at the Wellcome Sanger Institute. Driven by my interest in translational research, my current work aims to generate functional data with large-scale diagnostic utility. Saturation Genome Editing (SGE) is a high-throughput technology that utilises CRISPR-Cas9 genome editing to functionally assess the impact of thousands of specified variants simultaneously within their endogenous genomic context. Although implementation of this technique is still in its early stages, use of this technology is already proving to be a powerful tool for classification of variants in disease-associated genes. SGE may additionally help explore structure-function relationships within important proteins and decipher the consequences of variants in more poorly understood non-coding regions. I therefore aim to conduct a series of SGE screens targeting coding and non-coding regions of neurodevelopmental disorder genes. This work aims to clarify the functional effect of variants in these regions, as well as the aetiology of associated conditions.
Prior to my PhD, my academic interest in clinical genetics and human reproduction led me to complete two master’s degrees. I first completed an MPhil in Genomic Medicine at the University of Cambridge, during which I analysed maternal effect variants detected among patient cohorts of Deciphering Developmental Disorders (DDD) and Prenatal Assessment of Genomes and Exomes (PAGE) studies. Maternal effect variants, which describe variants in the maternal genome that disturb imprint establishment in offspring, are predominantly linked to female infertility and recurrent pregnancy loss. This research enabled a greater understanding of the phenotypic effect of these variants in offspring.
I then went on to complete an MSc in Reproductive and Developmental Biology at Imperial College London, during which I conducted research with the Epigenetic Memory Group at the MRC London Institute of Medical Sciences. This research focused on characterising reporter mouse embryonic stem cells for in vitro bioluminescent imaging and visualization of Aryl Hydrocarbon Receptor (AHR) activation. AHR is a transcription factor implicated in a broad range of physiological roles and pathological processes. Further use of this cell line is expected to aid investigation of the role of AHR in embryonic development and the contribution of this pathway to disease.
