The study of subjects with rare bleeding disorders has long history of identifying many of the key genes and their proteins that are essential for haemostasis. In platelets, some of these key proteins have been successfully targeted with drugs that are used widely in the treatment and prevention of atherothrombotic cardiovascular disease.

Our main research interest is in developing new strategies to identify novel gene defects in subjects with platelet bleeding disorders. Our approach is to fully characterise the phenotypic defect in platelets using a panel of platelet function assays in order to identify candidate genes. Platelet genes are then studied using either single gene re-sequencing or next-generation sequencing of a broader range of candidate genes. The consequences of genetic changes in platelet genes are then studied in cell expression models.  Our research aims to identify novel platelet proteins or functional elements within known proteins that are important for platelet biology.

A Study of Platelet Inhibition, Using a 'Point of Care' Platelet Function Test, following Primary Percutaneous Coronary Intervention for ST-Elevation Myocardial Infarction [PINPOINT-PPCI].

Johnson TW, Mumford AD, Scott LJ, Mundell S, Butler M, Strange JW, Rogers CA, Reeves BC, Baumbach A.

PLoS One. 2015 Dec 16;10(12):e0144984. doi: 10.1371/journal.pone.0144984. eCollection 2015.

Low multiple electrode aggregometry platelet responses are not associated with non-synonymous variants in G-protein coupled receptor genes.

Norman JE, Lee KR, Walker ME, Murden SL, Harris J, Mundell S, J Murphy G, Mumford AD.

Thromb Res. 2015 Aug 12. 

Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.

Leo VC, Morgan NV, Bem D, Jones ML, Lowe GC, Lordkipanidzé M, Drake S, Simpson MA, Gissen P, Mumford A, Watson SP, Daly ME; UK GAPP Study Group.

J Thromb Haemost. 2015 Apr;13(4):643-50.

A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders.

Mumford AD, Frelinger Iii AL, Gachet C, Gresele P, Noris P, Harrison P, Mezzano D.

Thromb Haemost. 2015 Apr 16;114(20150416).

Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors.

Jones ML, Norman JE, Morgan NV, Mundell SJ, Lordkipanidzé M, Lowe GC, Daly ME, Simpson MA, Drake S, Watson SP, Mumford AD; UK GAPP study group.

Thromb Haemost. 2015 Mar 30;113(4):826-37. 

Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH.

Gresele P; Subcommittee on Platelet Physiology.

J Thromb Haemost. 2015 Feb;13(2):314-22.

Rare platelet GPCR variants: what can we learn?

Nisar SP, Jones ML, Cunningham MR, Mumford AD, Mundell SJ; UK GAPP Study Group.

Br J Pharmacol. 2014 Sep 18.

Guideline for the diagnosis and management of the rare coagulation disorders: a United Kingdom Haemophilia Centre Doctors' Organization guideline on behalf of the British Committee for Standards in Haematology.

Mumford AD, Ackroyd S, Alikhan R, Bowles L, Chowdary P, Grainger J, Mainwaring J, Mathias M, O'Connell N; BCSH Committee.

Br J Haematol. 2014 Nov;167(3):304-26. 

Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey.

Gresele P, Harrison P, Bury L, Falcinelli E, Gachet C, Hayward CP, Kenny D, Mezzano D, Mumford AD, Nugent D, Nurden AT, Orsini S, Cattaneo M.

J Thromb Haemost. 2014 Sep;12(9):1562-9. doi: 10.1111/jth.12650. Epub 2014 Jul 25.

Prospective observational cohort study of the association between thromboelastometry, coagulation and platelet parameters and bleeding in patients with haematological malignancies- The ATHENA study.

Estcourt LJ, Stanworth SJ, Harrison P, Powter G, McClure M, Murphy MF, Mumford AD.

Br J Haematol 2014  [Epub ahead of print]

How should we test for nonsevere heritable platelet function disorders?

Norman JE, Westbury SK, Jones ML, Mumford AD.

Int J Lab Hematol 2014 

A multi-centre randomised controlled trial of Transfusion Indication Threshold Reduction on transfusion rates, morbidity and healthcare resource use following cardiac surgery: Study protocol.

Brierley RC, Pike K, Miles A, Wordsworth S, Stokes EA, Mumford AD, Cohen A, Angelini GD, Murphy GJ, Rogers CA, Reeves BC.

Transfus Apher Sci 2014

Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay.

Lordkipanidzé M, Lowe GC, Kirkby NS, Chan MV, Lundberg MH, Morgan NV, Bem D, Nisar SP, Leo VC, Jones ML, Mundell SJ, Daly ME, Mumford AD, Warner TD, Watson SP.

Blood 2014

A novel thromboxane A2 receptor N42S variant results in reduced surface expression and platelet dysfunction.

Nisar SP, Lordkipanidzé M, Jones ML, Dawood B, Murden S, Cunningham MR, Mumford AD, Wilde JT, Watson SP, Mundell SJ, Lowe GC; on behalf of the UK GAPP study group.

Thromb Haemost 2014


Principal Investigator
Professor in Haematology