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- Research Fellow
- Centre for Cardiovascular Genetics
- Institute of Cardiovascular Science
- Faculty of Population Health Sciences
My group focuses on understanding the genetic basis of coronary heart disease and related traits, such as type 2 diabetes, lipid metabolism, inflammation, hypertension and obesity at the molecular level. Although genome-wide association studies (GWAS) have revealed a large number of loci associated with CHD and related traits, few studies have successfully identified causal variants at each of these loci, or their mechanism leading to disease risk. We have five main interests: (1) Identifying causal non-coding SNPs and the molecular mechanisms that lead to variation in gene expression/function through alteration of regulatory elements (2) Identifying the role of novel GWAS genes in cardiovascular disease (3) Using in silico tools and bioinformatics to identify potential functional regulatory SNPs (4) Investigating how genome-wide allele-specific changes in chromatin accessibility effect transcription factor binding, gene expression and disease-susceptibility and (5) Using genetic technologies to develop novel therapeutic approaches to cardiovascular disease.
To achieve these goals we employ a number of established techniques such as next-generation sequencing, high-throughput genotyping, RT-PCR, EMSA, luciferase reporter assay and chromatin immunoprecipitation. We have identified functional polymorphisms for a number of genes related to cardiovascular disease, including: IL6, IL6R, LPL, LDLR, TCF7L2, NR1H3 (LXRA), APOA5 and the 9p21 CAD/T2D locus. Our lab develops procedures to identify targeted and genome-wide SNP effects on chromatin structure and function, such as high-throughput allele-specific FAIRE to identify functional polymorphisms from GWAS derived loci, and genome-editing tools, such as TALENs and CRISRP/Cas9, to create specific variants in relevant cell types to examine phenotypic changes.
I teach on the Genetics of Human Disease MSc Course, the MSc in Cardiovascular Science, and am involved with supervision of MSc/PhD students.
|2004||PhD||Doctor of Philosophy||University of Bristol|
|1999||BSc Hons||Bachelor of Science (Honours)||University of Kent|