Qualifications
- BSc (University of Leeds)
- PhD (University of Leeds)
Summary
Post-PhD, I worked within the Haemostasis Research Group (University of Sheffield) with Prof. Anne Goodeve and Prof. Ian Peake for 12 years funded by a USA National Institutes of Health Program Project Grant (NIH-PPG) in collaboration with colleagues based at the BloodCenter of Wisconsin, Milwaukee WI, USA (Prof. Robert Montgomery) and Queen’s University, Kingston ON, Canada (Prof. David Lillicrap). My initial research associated with this NIH-PPG as a postdoctoral researcher revealed a range of genetic mechanisms involved in the pathogenesis of the bleeding disorder von Willebrand disease that result in quantitative deficiency or functional defects of the plasma glycoprotein von Willebrand factor (VWF). My role in this NIH-PPG subsequently developed into a Senior Scientist as I began to design and supervise (in addition to conduct) my own research focused specifically on identifying genetic factors that may contribute to the unusually wide variation in 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.
Undergraduate
I currently teach on the following modules: Blood Sciences (level 5), Cellular and Molecular Basis of Biology (level 3), Clinical Haematology (level 6), Diseases in Biomedicine (level 7), Human Genetics (level 6; module leader), Preparing for Learning in Higher Education (level 3) and Reviews in Biochemistry (level 6).
Journal Article
Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms
Cartwright, A., Webster, S. J., de Jong, A., Dirven, R. J., Bloomer, L. D. S., Al-Buhairan, A. M., …Hampshire, D. J. (2020). Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms. Blood Advances, 4(13), 2979-2990. https://doi.org/10.1182/bloodadvances.2018027813
The EAHAD blood coagulation factor VII variant database
Kemball-Cook, G., Giansily-Blaizot, M., Giansily-Blaizot, M., Rallapalli, P. M., Perkins, S. J., Kemball-Cook, G., …McVey, J. H. (2020). The EAHAD blood coagulation factor VII variant database. Human Mutation, 41(7), 1209-1219. https://doi.org/10.1002/humu.24025
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers
McVey, J. H., Rallapalli, P. M., Kemball-Cook, G., Hampshire, D. J., Giansily-Blaizot, M., Gomez, K., …Ludlam, C. A. (2020). The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers. Haemophilia, 26(2), 306-313. https://doi.org/10.1111/hae.13947
The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance
Mufti, A. H., Ogiwara, K., Swystun, L. L., Eikenboom, J. C. J., Budde, U., Hopman, W. M., … on behalf of the European Group on von Willebrand disease (EU-VWD) and Zimmerman Program for the Molecular and Clinical Biology of von Willebrand disease (ZPMCB-VWD) Study Groups, . (2018). The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance. Blood Advances, 2(13), 1585-1594. https://doi.org/10.1182/bloodadvances.2017011643