From GWAS to function: Insights in bleeding and thrombosis from population platelet traits
Kate Burley (Clinical Haematology Registrar, University Hospitals Bristol)
Hosted by the MRC Integrative Epidemiology Unit
Brief abstract: Platelets are essential mediators of haemostasis, implicated in both bleeding and thrombotic disorders. GWAS of platelet count and size measured by clinical haematology analysers have previously identified biologically relevant genes. Additional platelet flow cytometry parameters measured in the full blood count may also be informative. The research presented focuses on the platelet side scatter parameter, a surrogate marker of cytoplasmic complexity, using data from a GWAS involving 39,656 INTERVAL study blood donors. Genetic associations were explored using MR-PheWAS, and prioritised based on colocalisation with eQTL and pQTL datasets and annotation against putative regulatory elements in progenitor cells. Candidate genes were evaluated experimentally using CRISPR-Cas9 gene-editing, findings from which highlight the power of GWAS to identify hitherto uncharacterised regulatory pathways in blood cells.
Biography: Kate is a clinical haematology registrar based at University Hospitals Bristol. She recently completed a Wellcome Trust-funded GW4 PhD fellowship in which she combined genetic epidemiology and molecular biology approaches to identify and functionally characterise novel platelet genes. Kate is now an NIHR-funded Academic Clinical Lecturer in Platform Science and Bioinformatics in the School of Life Sciences, with her research focusing on ancestral differences in blood cell traits.
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