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Bio
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.
My contributions to this research field have led to me receiving International Society on Thrombosis and Haemostasis (ISTH) Young Investigator Awards (2009 and 2011), serving as co-chair of the ISTH Scientific and Standardization Committee on von Willebrand factor (2012-2015) and invitations to present my research (2010, 2015 and 2017). In addition, skills I developed relating to curation and interpretation of genetic variation data have led to roles with the European Association for Haemophilia and Allied Disorders and Human Variome Project (2011-present) helping to establish variant databases to provide researchers / clinicians with information on phenotype-genotype correlations.
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.
Research Interests
Papers共 61 篇Author StatisticsCo-AuthorSimilar Experts
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Claudia Gerri,Afshan McCarthy, Gwen Mei Scott,Marius Regin, Panagiotis Stamatiadis,Sophie Brumm,Claire S Simon, Janet Lee, Cristina Montesinos, Caroline Hassitt, Sarah Hockenhull,Daniel Hampshire,
Development (Cambridge, England)no. 8 (2023)
BLOOD (2023): 2604
BRITISH JOURNAL OF HAEMATOLOGYno. 3 (2023): 457-458
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#Papers: 54
#Citation: 4399
H-Index: 23
G-Index: 54
Sociability: 6
Diversity: 0
Activity: 0
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