Dr. Daniel Hampshire BSc PhD

Postdoctoral Research Associate

Department of Cardiovascular Science
University of Sheffield
Medical School
Beech Hill Road
Sheffield
S10 2RX

Tel: +44 (0)114 226 1433
Fax: +44 (0)114 271 1863
Email: d.hampshire@sheffield.ac.uk

Biography:

I joined the University of Sheffield in 2006 having previously worked and undertaken my PhD at the University of Leeds. I currently work with Dr. Anne Goodeve and Prof. Ian Peake on an National Institutes of Health (NIH) funded Program Project Grant (PPG).

Research Interests:

My field of interest is based on the application of molecular genetics to the investigation of cardiovascular disorders. Currently, my research is focused on investigating the plasma glycoprotein von Willebrand factor (VWF); specifically identifying factors which may contribute to the wide variation in VWF plasma levels observed in the general population, including the transcriptional regulation of the VWF gene and other genetic modifiers. I also have an interest in the associated bleeding disorder von Willebrand disease (VWD); specifically identifying further mechanisms involved in the pathogenesis of this disorder.

Teaching Interests:

• Lead tutor for the Doctoral Development Programme (DDP) module MED640: ‘Critical review of research papers’.
• Tutor for the MSc in Molecular Medicine module MED6007: ‘Writing a critical review’.

Professional Activities:

• Database Manager for the International Society on Thrombosis and Haemostasis Scientific and Standardization Committee on von Willebrand factor (ISTH-SSC on VWF) website (VWFdb).
• President of the Faculty of Medicine, Dentistry and Health Research Staff Association (MDHRSA).
• Co-chair of the International Society on Thrombosis and Haemostasis Scientific and Standardization Committee on von Willebrand factor (ISTH-SSC on VWF).

Current Projects:

• Postdoctoral Research Associate on an NIH funded PPG ‘Zimmerman Project on the Molecular and Clinical Biology of von Willebrand disease’.

Key Publications:

1. Hampshire DJ, Goodeve AC. The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked. Haematologica. 2011;96:798-800.
2. Hickson N, Hampshire D, Castaman G, Eikenboom J, Rodeghiero F, Peake I, Goodeve A. Effect of the VWF promoter (GT)n repeat and single-nucleotide polymorphism c.-2527G>A on circulating von Willebrand factor levels under normal conditions. J Thromb Haemost. 2011;9:603-5.
3. Hampshire DJ, Burghel GJ, Goudemand J, Bouvet LC, Eikenboom JC, Schneppenheim R, Budde U, Peake IR, Goodeve AC. Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort. Haematologica. 2010;95:2163-5.
4. Othman M, Chirinian Y, Brown C, Notley C, Hickson N, Hampshire D, Buckley S, Waddington S, Parker AL, Baker A, James P, Lillicrap D. Functional characterization of a 13-bp deletion (c.-1522_-1510del13) in the promoter of the von Willebrand factor gene in type 1 von Willebrand disease. Blood. 2010;116:3645-52.
5. Hickson N, Hampshire D, Winship P, Goudemand J, Schneppenheim R, Budde U, Castaman G, Rodeghiero F, Federici AB, James P, Peake I, Eikenboom J, Goodeve A. von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels. J Thromb Haemost. 2010;8:1986-93.
6. Jacoby M, Cox JJ, Gayral S, Hampshire DJ, Ayub M, Blockmans M, Pernot E, Kisseleva MV, Compère P, Schiffmann SN, Gergely F, Riley JH, Pérez-Morga P, Woods CG, Schurmans S. INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. Nat Genet. 2009;41:1027-31.
7. Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG. The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet. 2009;46:249-53.
8. Ramirez A, Heimbach A, Grundemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet. 2006;38:1184-91.
9. Woods CG, Cox J, Springell K, Hampshire DJ, Mohamed MD, McKibbin M, Stern R, Raymond FL, Sandford R, Malik Sharif S, Karbani G, Ahmed M, Bond J, Clayton D, Inglehearn CF. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet. 2006;78:889-96.
10. Hampshire DJ, Ayub M, Springell K, Roberts E, Jafri H, Rashid Y, Bond J, Riley JH, Woods CG. MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. Eur J Hum Genet. 2006;14:543-8.
11. Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet. 2005;37:353-5.
12. Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet. 2005;37:221-3.

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