I am a Lecturer in Genetics based in the Centre for Biomedicine.
I obtained a BSc (Hons.) in Human Genetics and PhD in Molecular Medicine at the University of Leeds. Post-PhD, I worked within the Haemostasis Research Group (University of Sheffield) for 12 years funded by a USA National Institutes of Health Program Project Grant (in collaboration with colleagues based in the USA and Canada) investigating the plasma glycoprotein von Willebrand factor. In 2018, I joined the Department of Biomedical Science at the University of Hull as a Lecturer in Genetics.
My research focuses specifically on identifying genetic factors that may contribute to the unusually wide variation in von Willebrand factor (VWF) plasma levels observed in the general population. An increased understanding of the factors influencing VWF levels has important implications given that variation in VWF levels is associated with susceptibility to both bleeding (reduced VWF levels) and thrombosis (elevated levels). My research in this area has investigated the transcriptional regulation of the VWF gene and other genetic modifiers of VWF level including single nucleotide variants within the VWF locus previously thought to be ‘neutral’ common polymorphisms. Applying the knowledge and experience I have gained to date, I now aim to ascertain the role that natural variation in plasma VWF levels has in determining clinical outcomes following treatment in patients with acute coronary syndromes.
In addition, skills I developed in the curation and interpretation of genetic variation data have led to roles with the European Association for Haemophilia and Allied Disorders, Human Genome Organisation and ClinGen (2011-present), helping to establish variant databases to provide researchers / clinicians with information on phenotype-genotype correlations.
As part of the BSc in Biomedical Science degree programme, I currently teach on the following modules: Introduction to Biological Sciences 1 (level 3), Blood Sciences (level 5), Clinical Haematology (level 6) and Human Genetics (level 6; module leader). I also deliver material for MBBS Phase I and teach on the MSc in Biomedical Sciences module Diseases in Biomedicine. I supervise both undergraduate and taught postgraduate research projects.
Editorial Board Member, Blood Coagulation and Fibrinolysis
Co-chair of the Clinical Genome Resource (ClinGen) von Willebrand Disease Variant Curation Expert Panel
Member of the European Association for Haemophilia and Allied Disorders Coagulation Factor Variant Databases (EAHAD-CFDB) Steering Group
Committee Member of the Human Genome Organisation (HUGO) Gene / Disease Specific Database Advisory Council
Enquiries from prospective students are welcome for both MSc (Research) and PhD projects.
International Society of Thrombosis and Haemostasis (ISTH) Young Investigator Award (2009 and 2011)