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 (now Centre for Biomedicine, Hull York Medical School) 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.
I am the Programme Director for the MSc in Biomedical Sciences, where I teach on the modules Diseases in Biomedicine and Research Project in Biomedicine (module lead).
As part of the BSc in Biomedical Science degree programme, I currently teach on the following modules: Blood Sciences (level 5), Clinical Haematology (level 6) and Human Genetics (level 6). I also deliver material for MBBS Phase I.
I supervise both undergraduate and taught postgraduate research projects.
Editorial Board Member, Blood Coagulation and Fibrinolysis.
Committee Member of the British Society for Haemostasis and Thrombosis.
Co-chair of the Clinical Genome Resource (ClinGen) von Willebrand Disease Variant Curation Expert Panel and Member of the ClinGen Hemostasis / Thrombosis Clinical Domain Working Group.
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 interested in undertaking a postgraduate research degree (MSc by Research or PhD) are welcome.
Current PhD supervision:
Abigail Walne: Association of von Willebrand factor genetic variation and levels with cardiovascular disease outcomes (Primary Supervisor; Hull York Medical School).
Current MSc by Research supervision:
Hikmat Sulayman: Is endometriosis a genetic disease? (Secondary Supervisor; University of Hull).
Previous PhD supervision:
Simon Webster (2016): Copy number variation in von Willebrand disease: Screening, prevalence and functional characterisation (Secondary Supervisor; University of Sheffield).
Ahmad Mufti (2016): Investigation of the association of novel genetic factors on von Willebrand factor (VWF) plasma levels (Primary Supervisor; University of Sheffield).
International Society of Thrombosis and Haemostasis (ISTH) Young Investigator Award (2009 and 2011).