Dr Vincenzo Leo BSc, PhDVin Leo

Honorary Research Fellow

Department of Infection, Immunity & Cardiovascular Disease
University of Sheffield
Medical School
Beech Hill Road
S10 2RX

Tel: +44 (0)114 215 9500
Fax: +44 (0)114 271 1863
Email: v.c.leo@sheffield.ac.uk


I joined the University of Sheffield in January 2013 as a Postdoctoral Research Associate in the Haemostasis Research Group, working on the genetic analysis of platelet-function disorders on a British Heart Foundation (BHF) - funded programme known as the Genotyping and Phenotyping of Platelets (GAPP) study. Before coming to Sheffield, I completed a PhD at the University of Leeds working on the characterisation of a mitochondrial fission protein using a mouse model of dilated cardiomyopathy.

Research Interests:

My research is aimed at enhancing our understanding of platelet function disorders by using next generation sequencing technologies to facilitate identification of the underlying genetic defect in large cohorts of patients suffering from haemorrhagic disorders. Increasing understanding of the dysfunction occurring within platelets will aid the development of novel therapies for the treatment of haemorrhagic disorders and identify potential targets for anti-platelet agents for the treatment of myocardial infarction and stroke.

Teaching Interests:

  • Tutor on the Doctoral Development Programme (DDP) module MED640: Critical review of research papers.
  • Facilitator on the Achieve More - Health Challenge Module.

Professional Activities:

  • Committee Member of the Faculty of Medicine, Dentistry and Health Research Staff Association.


Funder name: British Heart Foundation (Ref: PG/15/61/31634)
Title: Identification and characterisation of FLI1 and RUNX1 regulated determinants of platelet granule biogenesis and secretion.
Start date: 4th January 2016
End Date: 3rd January 2019

Key Publications:

Stockley J, Nisar SP, Leo VC, Sabi E, Cunningham MR, Eikenboom JC, Lethagen S, Schneppenheim R, Goodeve AC, Watson SP, et al. Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease. PLoS One 10(12):e0143913 2015.

Cahill TJ, Leo V, Kelly M, Stockenhuber A, Kennedy NW, Bao L, Cereghetti G, Harper AR, Czibik G, Lao C, et al. Resistance of Dynamin-related Protein 1 Oligomers to Disassembly Impairs Mitophagy, Resulting in Myocardial Inflammation and Heart Failure. Journal of Biological Chemistry 290(43):25907-25919 23 Oct 2015.

Leo VC, Morgan NV, Bem D, Jones ML, Lowe GC, Lordkipanidzé M, Drake S, Simpson MA, Gissen P, Mumford A, et al. Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders. Journal of Thrombosis and Haemostasis 13(4):643-650 01 Jan 2015.

Daly ME, Leo VC, Lowe GC, Watson SP, Morgan NV. What is the role of genetic testing in the investigation of patients with suspected platelet function disorders? British Journal of Haematology 165(2):193-203 01 Jan 2014.

Lordkipanidzé M, Lowe GC, Kirkby NS, Chan MV, Lundberg MH, Morgan NV, Bem D, Nisar SP, Leo VC, Jones ML, et al. Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: Use of 96-well Optimul assay. Blood 123(8):e11-e22 20 Feb 2014.

Stockley J, Morgan NV, Bem D, Lowe GC, Lordkipanidzé M, Dawood B, Simpson MA, Macfarlane K, Horner K, Leo VC, et al. Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. Blood 122(25):4090-4093 12 Dec 2013.

Ashrafian H, Docherty L, Leo V, Towlson C, Neilan M, Steeples V, Lygate CA, Hough T, Townsend S, Williams D, et al.. A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy. PLoS Genet 6(6):e1001000 Jun 2010.

Carpenter D, Ringrose C, Leo V, Morris A, Robinson RL, Halsall PJ, Hopkins PM, Shaw MA. The role of CACNA1S in predisposition to malignant hyperthermia. BMC Med Genet 10:104 2009.


Nasr N, Levick C, Howarth C, Leo V, Martins J, Lueck N. The novel use of narrative stories and forum theatre methodologies to represent the experience of stroke. International Journal of Stroke 10:34-35 Dec 2015.

Sabi E, Leo VC, Al-Musbahi A, Al-Marwani A, Makris M, Daly ME. Characterization of six alterations in ITGA2B and ITGB3 associated with glanzmann's thrombasthenia. Journal of Thrombosis and Haemostasis 13:938-938 Jun 2015.

Leo VC, Wagner BE, Nicholson-Goult LJ, Makris M, Watson SP, Daly ME. Impaired nuclear accumulation and DNA binding of two FLI1 variants results in abnormally large platelet alpha granules and a reduction in platelet dense granule number. Journal of Thrombosis and Haemostasis 13:45-45 Jun 2015.

Leo VC, Morgan NV, Bem D, Jones ML, Lowe GC, Lordkipanidzé M, Drake S, Simpson MA, Gissen P, Mumford A, et al. Whole exome sequencing in patients with inherited thrombocytopenia and excessive bleeding is an efficient way to identify genetic variants in known and novel genes. Journal of Thrombosis and Haemostasis 13(4):643-650 01 Jan 2015.

Leo V, Cahill T, Ashrafian H, Peers C, Boyle J, Dear TN. Deleterious effects of a mutant mitochondrial fission protein on calcium and energy homeostasis. Journal of Thrombosis and Haemostasis 11:881-882 Jul 2013.

Stockley J, Nisar SP, Leo V, Goodeve AC, Mundell S, Mumford AD, Watson SP, Daly ME. Novel variations in platelet GPCRs identified in patients with a historical diagnosis of Type 1 von Willebrand disease. Journal of Thrombosis and Haemostasis 11:176-176 Jul 2013.

Leo VC, Ringrose C, Carpenter, D, Robinson, RL, Halsall, PJ, Booms, P, Steele, D, Iles, DE, Shaw, MA, Hopkinsm PM. Sequencing the CACNA1S gene in patients susceptible to malignant hyperthermia. British Journal of Anaesthesia 100: 588-588 2008.

Book Chapter:

Leo VC. Next-Generation Sequencing in the Study of Platelets. Book: Platelets in Thrombotic and Non-Thrombotic Disorders, pp.699-714.