Dr Dan Hampshire

Dr Dan Hampshire

Lecturer in Genetics

Faculty and Department

  • Faculty of Health Sciences
  • Department of Biomedical Sciences

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).

Recent outputs

View more outputs

Journal Article

aIIbß3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

Buitrago, L., Rendon, A., Liang, Y., Simeoni, I., Negri, A., ThromboGenomics Consortium, , …Coller, B. S. (2015). aIIbß3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia. Proceedings of the National Academy of Sciences of the United States of America, 112(15), E1898-E1907. https://doi.org/10.1073/pnas.1422238112

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Simeoni, I., Stephens, J. C., Hu, F., Deevi, S. V. V., Megy, K., Bariana, T. K., …Turro, E. (2016). A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood, 127(23), 2791-2803. https://doi.org/10.1182/blood-2015-12-688267

Congenital macrothrombocytopenia is a heterogeneous disorder in India

Ali, S., Ghosh, K., Daly, M. E., Hampshire, D. J., Makris, M., Ghosh, M., …Shetty, S. (2016). Congenital macrothrombocytopenia is a heterogeneous disorder in India. Haemophilia, 22(4), 570-582. https://doi.org/10.1111/hae.12917

In silico analysis highlights the copy number variation mechanism responsible for the historically reported VWF exon 42 deletion

Cartwright, A., Peake, I. R., Goodeve, A. C., & Hampshire, D. J. (2016). In silico analysis highlights the copy number variation mechanism responsible for the historically reported VWF exon 42 deletion. Haemophilia, 22(5), e484-e487. https://doi.org/10.1111/hae.13059

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

Committee/Steering group role

Committee Member: Human Variome Project Gene / Disease Specific Database Advisory Council

2011

Member: European Association for Haemophilia and Allied Disorders Coagulation Factor Variant Databases Steering Group

2011

Co-chair: ClinGen von Willebrand Disease Variant Curation Expert Panel

2019

Honorary position

Honorary Research Fellow

2018

Journal editorial role

Blood Coagulation and Fibrinolysis

2020

National/International learned society/body role

Co-chair: International Society of Thrombosis and Haemostasis Scientific and Standardization Committee on von Willebrand factor

2012 - 2015