Emeritus Professor Martina Daly
BSc PhD
Clinical Medicine, School of Medicine and Population Health
Emeritus Professor of Molecular Medicine
Faculty Lead for Postgraduate Research Programmes
m.daly@sheffield.ac.uk
The Medical School
Full contact details
Emeritus Professor Martina Daly
Clinical Medicine, School of Medicine and Population Health
The Medical School
Beech Hill Road
Sheffield
S10 2RX
Clinical Medicine, School of Medicine and Population Health
The Medical School
Beech Hill Road
Sheffield
S10 2RX
- Profile
-
For enquiries, please contact – iicd-om-operational@sheffield.ac.uk
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.I retired from the University in 2021.
- Research interests
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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.
Current Projects:
- 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.
- Publications
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Show: Featured publications All publications
Featured publications
Journal articles
- Sorting Nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes. Haematologica. View this article in WRRO
- 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
- SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. Journal of Clinical Investigation, 125(9), 3600-3605. 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
- A novel mutation in the P2Y
12 receptor 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
12 purinoceptor 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.
All publications
Journal articles
- Sorting Nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes. Haematologica. View this article in WRRO
- A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.. Research and Practice in Thrombosis and Haemostasis, 2(4), 640-652. View this article in WRRO
- Gene of the issue: RUNX1 mutations and inherited bleeding. Platelets, 28(2), 208-210. View this article in WRRO
- Transient inherited antithrombin deficiency: a real phenomenon?. Thrombosis and Haemostasis. View this article in WRRO
- ISTH Advanced Training Course on platelet bleeding disorders: How should they be investigated?St. Anne's College, Oxford, 6-9(th) September 2016.. Platelets, 1-3.
- Congenital macrothrombocytopenia is a heterogeneous disorder in India. Haemophilia, 22(4), 570-582. View this article in WRRO
- Transcription factor defects causing platelet disorders. Blood Reviews. View this article in WRRO
- Whole Exome Sequencing Identifies Genetic Variants In Inherited Thrombocytopenia With Secondary Qualitative Function Defects. Haematologica, 101, 1170-1179. View this article in WRRO
- 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
- 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
- SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. Journal of Clinical Investigation, 125(9), 3600-3605. 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
- A novel mutation in the P2Y
12 receptor 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.
- Functional Variations In Genes Encoding Platelet G-Protein Coupled Receptors In Unselected and Platelet Function Disorder Populations. Blood, 122(21), 3511-3511.
- Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.. Blood, 122(25), 4090-4093.
- A novel mutation in the dry motif of the P2Y12 receptor combined with a function-reducing polymorphism in PAR1 in a patient with a bleeding disorder. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 11, 454-454.
- 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.
- Identification of novel FLI1 mutations in two families with a platelet secretion defect. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 11, 161-161.
- Characterization of four novel beta 3 integrin defects associated with Glanzmann's thrombasthenia. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 11, 224-224.
- 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.
- Classification of mild platelet-based bleeding disorders using lumi-aggregometry. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 9, 795-795.
- Assessment of antithrombin deficiency in the real world. International Journal of Laboratory Hematology, 33(6), 659-660.
- 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
12 purinoceptor 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.
- Common sequence variations in the P2Y12 and CYP3A5 genes do not explain the variability in the inhibitory effects of clopidogrel therapy.. Platelets, 17(4), 250-258.
- The Fc gamma RIIa His131Arg polymorphism and its association with myocardial infarction. J THROMB HAEMOST, 2(6), 1014-1015.
- The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population.. Br J Haematol, 125(5), 647-654.
- Hemostatic regulators of tumor angiogenesis: a source of antiangiogenic agents for cancer treatment?. J Natl Cancer Inst, 95(22), 1660-1673.
- Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease-causing variants of von Willebrand factor.. Blood, 102(7), 2452-2458.
- Inherited protein S deficiency: from genotype to phenotype. HAEMATOLOGICA, 88(4), 363-367.
- The -1185 A/G and -1051 G/A dimorphisms in the von Willebrand factor gene promoter and risk of myocardial infarction.. Br J Haematol, 115(3), 701-706.
- Novel platelet membrane glycoprotein VI dimorphism is a risk factor for myocardial infarction.. Circulation, 104(13), 1459-1463.
- Endoplasmic reticulum retention and prolonged association of a von Willebrand's disease-causing von Willebrand factor variant with ERp57 and calnexin.. Biochem Biophys Res Commun, 280(2), 448-453.
- A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.. Blood, 96(2), 560-568.
- Influence of the -675 4G/5G dimorphism of the plasminogen activator inhibitor 1 promoter on thrombotic risk in patients with factor V Leiden.. Br J Haematol, 110(1), 135-138.
- Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency--partial/complete deletions and rearrangement of the antithrombin gene.. Thromb Haemost, 83(5), 715-721.
- Kozak sequence polymorphism in the platelet GPIb alpha gene is not associated with risk of myocardial infarction. BLOOD, 95(6), 2183-2183.
- Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S.. Blood, 95(6), 1935-1941.
- Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor.. Blood, 95(6), 2000-2007.
- Null alleles are not a common cause of type 1 von Willebrand disease in the British population.. Thromb Haemost, 82(4), 1373-1375.
- The GPIa C807T dimorphism associated with platelet collagen receptor density is not a risk factor for myocardial infarction.. Br J Haematol, 106(3), 771-776.
- CYS788ARG and CYS1225GLY mutations in von Willebrand factor result in combined type 1 and type 2N von Willebrand disease. THROMB HAEMOSTASIS, 686-686.
- Arg273Trp mutation in the von Willebrand factor propeptide results in impaired secretion. THROMB HAEMOSTASIS, 687-687.
- The platelet GPIa C807T dimorphism is not a risk factor for myocardial infarction. THROMB HAEMOSTASIS, 539-539.
- The 46 allele of the-675 4G/5G dimorphism in the PAI-1 promoter increases thrombotic risk in patients with factor V Leiden. THROMB HAEMOSTASIS, 668-668.
- Increased prevalence of compound heterozygosity for the C677T and A1289C dimorphisms in the methylene tetrahydrofolate reductase gene in patients with factor V Leiden and venous thrombosis. THROMB HAEMOSTASIS, 71-71.
- Pseudohomozygous Factor V Leiden. THROMB HAEMOSTASIS, 266-267.
- Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency. THROMB HAEMOSTASIS, 517-518.
- The common haemochromatosis mutation does not increase the risk of thrombosis in patients with factor V Leiden. BRIT J HAEMATOL, 105(3), 842-843.
- The prothrombin 20210A allele and its association with myocardial infarction.. Thromb Haemost, 81(6), 861-864.
- Diagnosis and thrombotic risk in a cohort with genetically confirmed protein S deficiency.. BLOOD, 92(10), 561A-561A.
- Antithrombins Wibble and Wobble (T85M/K): Archetypal Conformational Diseases With In Vivo Latent-Transition, Thrombosis, and Heparin Activation. Blood, 92(8), 2696-2706.
- Antithrombins Wibble and Wobble (T85M/K): Archetypal Conformational Diseases With In Vivo Latent-Transition, Thrombosis, and Heparin Activation. Blood, 92(8), 2696-2706.
- A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort.. Thromb Haemost, 79(6), 1086-1091.
- Pro2063Ser mutation in von Willebrand factor results in impaired intracellular transport and secretion.. BRIT J HAEMATOL, 101, 67-67.
- The prothrombin 20210A allele is not a risk factor for myocardial infarction (MI).. BRIT J HAEMATOL, 101, 67-67.
- Antithrombin Cambridge II (Ala384Ser): Clinical, functional and haplotype analysis of 18 families. THROMB HAEMOSTASIS, 79(2), 249-253.
- Co-inheritance of the 20210A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia.. Thromb Haemost, 78(6), 1426-1429.
- Factor V Leiden in Greek thrombophilia patients. Blood Coagulation & Fibrinolysis, 8(8), 485-490.
- Influence of founder effect and mutations causing borderline phenotypes on the prevalence of antithrombin deficiency in thrombophilic patients. THROMB HAEMOSTASIS, P1764-P1764.
- The C677F polymorphism in the methylene tetrahydrofolate reductase gene: Interaction with factor V Leiden in thrombophilia patients. THROMB HAEMOSTASIS, P2154-P2154.
- Co-inheritance of the 20210A allele of the prothrombin gene increases the thrombotic risk in subjects with familial thrombophilia. THROMB HAEMOSTASIS, SC672-SC672.
- A common mutation in the antithrombin gene: Ala384Ser: Clinical, functional and haplotype analysis of 18 families. THROMB HAEMOSTASIS, OC766-OC766.
- The prothrombin 20210 G->A variant is associated with increased levels of prothrombin and increased incidence of venous thrombosis. THROMB HAEMOSTASIS, O1546-O1546.
- The expression of von Willebrand factor (VWF) in endothelial cell lines ECV304 and EAhy926 following transfection with wild type (WT) and/or mutant VWF expression plasmids.. BLOOD, 88(10), 2951-2951.
- Platelet glycoprotein IIIa gene polymorphism and myocardial infarction. LANCET, 348(9037), 1309-1310.
- P9 The molecular basis of antithrombin deficiency. Blood Coagulation & Fibrinolysis, 7(7), 734-734.
- Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden. Blood, 88(5), 1700-1707.
- Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden.. Blood, 88(5), 1700-1707.
- The molecular basis of protein S deficiency in four unrelated kindred.. BRIT J HAEMATOL, 93, 17-17.
- Identification of two protein S gene mutations in two kindred with deficiency of protein S and APC resistance. BLOOD, 86(10), 1426-1426.
- Genetic risk factors for venous thrombosis: laboratory assessment. International Journal of Laboratory Hematology, 17(3), 264-266.
- A case of recessive type 2N von Willebrand's disease due to Arg 53 Trp substitution. American Journal of Hematology, 48(2), 140-140.
- RAPID 2-STAGE PCR FOR DETECTING FACTOR-V G1691A-MUTATION. LANCET, 344(8923), 694-695.
- High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis.. Br J Haematol, 88(1), 219-222.
- A de novo mutation in exon 28 of the von Willebrand factor gene in a patient with type IIA von Willebrand's disease coincides with an Mbol polymorphism in the von Willebrand factor pseudogene. Human Molecular Genetics, 2(12), 2159-2161.
- Molecular Dynamics Analysis of a Novel β3 Pro189Ser Mutation in a Patient with Glanzmann Thrombasthenia Differentially Affecting αIIbβ3 and αvβ3 Expression. PLoS ONE, 8(11), e78683-e78683.
Conference proceedings papers
- Phenotypic approaches to gene mapping in platelet function disorders. Hämostaseologie, Vol. 30(01) (pp 29-38)
- Inhibition of platelet aggregation by clopiclogrel is unaffected by the CYP2C19 681G > A polyrnorphism in patients with coronary artery disease. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, Vol. 49(9) (pp 375A-375A)
- The G allele of the platelet P2Y1 1622 A > G polymorphism is not associated with platelet hyper-reactivity to ADP in either healthy volunteers or CAD patients. EUROPEAN HEART JOURNAL, Vol. 27 (pp 756-756)
- Assembly of Multimeric von Willebrand Factor Directs Sorting of P-Selectin. Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 20(7) (pp 1763-1768)
- Mutations in the pro-peptide of VWF causing type 1 and type 3 VWD.. BRIT J HAEMATOL, Vol. 101 (pp 67-67)
- Mutation at Arg611 in the von Willebrand factor gene results in unclassifiable type 2 von Willebrand disease. THROMB HAEMOSTASIS (pp P2665-P2665)
- Sorting Nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes. Haematologica. View this article in WRRO
- Teaching interests
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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.