Dr Vincenzo Leo
Department of Infection, Immunity and Cardiovascular Disease
Honorary Research Fellow
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.
- Whole Exome Sequencing Identifies Genetic Variants In Inherited Thrombocytopenia With Secondary Qualitative Function Defects. Haematologica, 101, 1170-1179. View this article in WRRO
- 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-e0143913. View this article in WRRO
- 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, 19-19.
- 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. View this article in WRRO
- 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.
- 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.
- Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. Blood, 122(25), 4090-4093.
- 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.
- Deleterious effects of a mutant mitochondrial fission protein on calcium and energy homeostasis. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 11, 881-882.
- A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy. PLoS Genetics, 6(6). View this article in WRRO
- Research group
- Maryam Aldossary
- Essa Sabi
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
- 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.