Professor Martina Daly BSc PhD
Professor of Molecular Medicine and Faculty Lead for Postgraduate Research Programmes
Department of Infection, Immunity & Cardiovascular Disease
University of Sheffield
Beech Hill Road
Tel: +44 (0) 114 215 9521
Fax: +44 (0) 114 271 1863
I joined the University of Sheffield in 1991 when I took up a postdoctoral research post with the Section of Molecular Genetics working with Professor Ian Peake on the investigation of genotype-phenotype relationships in von Willebrand disease. Before this, I completed a PhD in the Children´s Research Centre, Dublin where I developed an interest in haemostasis, in particular antithrombin deficiency, and undertook postdoctoral research posts first in the Children´s Research Centre, Dublin and then in the Department of Haematology, Cambridge UK, where I worked with Professor Robin Carrell´s group on the investigation of the molecular basis of antithrombin deficiency. I was appointed Lecturer in 1992, Senior Lecturer in 2001 and Professor in 2017.
My research is aimed at improving understanding of the pathogenesis of inherited haemostatic disorders. Current areas of interest include the identification and characterisation of novel genetic defects underlying inherited platelet bleeding disorders and inherited thrombocytopenia. I am also interested in the contribution of platelet gene variation to the bleeding tendency in patients with type 1 von Willebrand factor.
I have a longstanding interest in postgraduate research programmes, and in devising ways to improve the postgraduate research experience. From 2008 to 2014, I was the Postgraduate Research Lead for the University of Sheffield Medical School. In 2014, I was appointed Lead for Postgraduate Research Programmes for the Faculty of Medicine, Dentistry and Health and Chair of the Faculty Graduate Research Committee which is responsible for postgraduate research degree programmes provision within the Faculty and training of Postgraduate research students, and oversees postgraduate research student progress, supervision and support.
- Mapping and functional investigation of genetic mutations in patients with mild platelet bleeding disorders. Originally, funded through a British Heart Foundation Programme, this project seeks to identify and characterise the genetic defects underlying mild platelet bleeding abnormalities. Known as the Genotyping and Phenotyping of Platelets or GAPP project, the project is being carried out in collaboration with colleagues at the Universities of Birmingham (Steve Watson, Neil Morgan) and Bristol (Andrew Mumford, Stuart Mundell).
- Identification and characterisation of FLI1 and RUNX1 regulated determinants of platelet granule biogenesis and secretion, funded by the British Heart Foundation and in collaboration with Dr Vincenzo Leo, Sheffield and Dr Neil Morgan, University of Birmingham.
- The pathogenesis of inherited thrombocytopenia, in collaboration with Professor Mike Makris, Sheffield.
- Investigation of the molecular basis of Glanzmann’s thrombasthenia.
For key publications see below. For a full list of publications click here.
- Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors. Thrombosis and Haemostasis, 113(4), 826-837. View this article in WRRO
- 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
- SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. Journal of Clinical Investigation, 125(9), 3600-3605. View this article in WRRO
- A novel mutation in the P2Y
12receptor and a function-reducing polymorphism in protease-activated receptor 1 in a patient with chronic bleeding. Journal of Thrombosis and Haemostasis, 12(5), 716-725.
- 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).
- What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?. Br J Haematol, 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.
- Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel.. Blood, 120(25), 5041-5049.
- Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome.. J Thromb Haemost, 10(2), 306-309.
- Lack of association between polymorphisms in the interleukin-1 gene cluster and familial thrombophilia.. Thromb Res, 129(5), 629-634.
- The phenotypic and genetic assessment of antithrombin deficiency.. Int J Lab Hematol, 33(3), 227-237.
- An intact PDZ motif is essential for correct P2Y
12purinoceptor traffic in human platelets. Blood, 118(20), 5641-5651.
- Determinants of platelet count in humans. Haematologica, 96(1), 10-13.
- A novel thromboxane A(2) receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. BLOOD, 115(2), 363-369.
- Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study.. Blood, 113(17), 4110-4113.