Miss Charli Stoneman
Postgraduate Research Student
RILD Building Level 3
University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK
Office hours: Monday - Friday: 8.30am - 17.00pm
Monday - Friday: 8.30am - 17.00pm
Charli graduated with a First-Class Batchelor’s degree in Biochemistry from the University of Cardiff, before studying for an MSc in Genomic Medicine at the University of Exeter, Medical School.
She is an MRC Case PhD student working within the Human Genetics of Complex Traits team within the College of Medicine and Health. Charli is working under the supervision of Professor Tim Frayling, Dr Asami Oguro-Ando and Audrey Chu (GSK). The main focus of her PhD project is to determine the role of common genetic variants for predicting the modulation of cardiovascular outcome. Her industrial sponsors are GSK, the pharmaceutical company. Charli has a keen interest in genomics and chronic diseases with a particular focus on cardiovascular diseases.
Outside of her PhD project, Charli enjoys running, paddleboarding, playing netball & cricket, experimenting in the kitchen, travelling and exploring the outside with her husky pup.
2016 - 2017: 2.1 in an MSc in Genomic Medicine at University of Exeter
2012 - 2015: 1st class Hons BSc in Biochemistry at the University of Cardiff. Charli obtained 2 academic prizes in her final year for being the top student studying Biochemistry or Biology and for achieving the top marks in the Protein folding and structure module. She also achieved Merit awards during her 1st and 2nd year for outstanding achievements.
Research group links
Charli's main research interests lie in human genetics and complex diseases which have been further consolidated during relevant modules during her undergraduate degree and Master's. She also has a key interest in drug discovery and patient care/impact where she likes to see research being translated into medical care and make a real difference to patient treatment. Despite coming from a wet-lab undergraduate project background, Charli thrived during her Master's in the Bioinformatics module and also undertook a computer-based research project based on RNA-sequencing to further enhance her skill-set. This consolidated her interest in incorporating statistical techniques, bioinfomatics, programming and computer-based research with wet-lab functional work and hence her interest in carrying out her PhD project.
During her PhD, Charli uses human genetic data to predict the risk of adverse cardiac events associated with treatments under clinical development. She utilizes large-scale genotypic and phenotypic data including UK Biobank to implement genomic approaches including genome-wide association studies, meta-analysis, colocalization, eQTL analysis, gene-burden testing and Mendelian Randomisation to identify common and rare genetic variants and determine causal links between biomarkers and disease.
Charli also has a key interest in wet-laboratory works and has taught herself a novel gene-editing techniquie during her PhD project to help her functionally validate her genetic findings. This technique utilises CRISPR-Cas9 genome-editing alongside a piggyBac transposon system to perform whole gene knock-out and homozygous SNP knock-in experiments. She has gained invaluable experience in several molecular techniques including DNA, RNA and Protein extraction, polymerase chain reaction, Gibson Cloning, western blotting, quantitative reverse transcription polymerase chain reaction, gel electrophoresis, cDNA conversion, functional assays, primer design, site-directed mutagenesis.
Charli has also worked closely with GSK throughout her project and has provided them with genetic evidence to help support ongoing clinical trials into a novel treatment for anaemia due to chronic kidney disease. She has gained extensive expereince of being in an industry setting and translating genetic findings to impact drug development and patient care. She undertook a project with them working on pQTL data, colocalisation analysis and finemapping approaches to help improve their current genetics pipelines and identify novel target-indication pairs which has led to downstream development of novel treatments.
PhD project: Using human genetics to inform the drug discovery pipeline
This research focuses on identifying genetic variants that influence circulating factors, like erythropoietin (EPO), which is altered in chronic kidney disease (CKD) and adverse cardiac outcomes. These variants will then be used as instruments to carry out Mendelian Randomisation to test the causal relationship between higher levels of circulating EPO and haemoglobin and adverse cardiac outcomes. Data will be obtained from the UK Biobank alongside the InCHIANTI, PREVEND and HealthABC studies.
Supervisory team: Prof Tim Frayling, University of Exeter, Dr Asami Oguro-Ando, University of Exeter, Dr Audrey Chu, GSK.
Funding: Medical Research Council
Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of European ancestry
We performed a genome-wide association study meta-analysis of body fat distribution, measured by waist-to-hip ratio adjusted for BMI (WHRadjBMI), and identified 463 signals in 346 loci. Heritability and variant effects were generally stronger in women than men, and the 5% of individuals carrying the most WHRadjBMI-increasing alleles were ~1.62 times more likely than the bottom 5% to have a WHR above the thresholds used for metabolic syndrome. These data, made publicly available, will inform the biology of body fat distribution and its relationship with disease.