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The William Harvey Research Institute - Faculty of Medicine and Dentistry

Professor Sir Mark Caulfield

Mark

Vice-Principal (Health)

Centre: Clinical Pharmacology

Email: m.j.caulfield@qmul.ac.uk
Telephone: +44(0) 20 7882 3403

Profile

ORCID  iD: 0000-0001-9295-3594

Professor Sir Mark Caulfield is Professor of Clinical Pharmacology at Queen Mary University of London and the CEO of Barts Life Sciences, a research and innovation partnership between Queen Mary University of London and Barts Health NHS Trust.

Professor Caulfield graduated in Medicine in 1984 from the London Hospital Medical College and trained in Clinical Pharmacology at St Bartholomew’s Hospital where he developed a research programme in molecular genetics of hypertension and translational clinical research.

At Queen Mary University of London Professor Caulfield has made substantial contributions to the discovery of genes related to blood pressure, cardiovascular health, cancer and rare diseases. His research has changed national and international guidance for high blood pressure. He was Director of Queen Mary’s William Harvey Research Institute between 2002-2020 and was elected to the Academy of Medical Sciences in 2008.  

Professor Caulfield was appointed Chief Scientist for Genomics England in 2013, charged with delivery of the 100,000 Genomes Project on whole genome sequencing in rare disease, cancer and infection. At Genomics England, he was instrumental in delivering the 100,000 Genomes Project which has delivered life-changing results for many patients. He has also worked with NHS England to co-create the National Genomic Test Directory, which offers equitable access for 56 million people to appropriate genomic tests.  Professor Caulfield was awarded a knighthood in 2019 for his leadership of the 100,000 Genomes Project.

In July 2021, Professor Caulfield stepped down from his role as Chief Scientist for Genomics England and is taking a major leadership in Barts Life Sciences a partnership between Queen Mary University of London and Barts Health NHS Trust. This is driving the development of a world-leading life sciences campus at Whitechapel focusing on digital precision healthcare. He is a member of the Barts Health NHS trust Board and is the President Elect of the British Pharmacological Society.  From January 2022 he will be Vice Principal for Health for Queen Mary’s Faculty of Medicine and Dentistry.

Research

Group members

NIHR Barts Biomedical Research Centre Director’s Office
Clare Birch (Executive Assistant); John Whiteley (Chief Operating Officer for the NIHR Barts Biomedical Research Centre).

Cardiovascular Genetics and Genomics
Dr Helen Warren (Lecturer); Dr Claudia Cabrera (Lecturer); Prof Mike Barnes (Director of Bioinformatics); Dr Emma Forton Macgavern (Academic Clinical Fellow).

Dr Arianna Tucci (MRC Clinician Scientist) Dr Kristina Ibanez Garikano (Lecturer)

William Harvey Clinical Research Centre
Dr David Collier (Clinical Director); Dr Manish Saxena (Clinical Fellow); Dr Julian Shiel (Clinical Fellow), Dr Vivienne Monk (Clinical Research Centre Manager); Marion Benford (Quality Assurance); Mike Taylor (Recruitment); Patrizia Ebano; Jane Pheby, Ania Michalska (Research Sisters).

Summary

Cardiovascular Genomics
My leadership of international research collaborations of 350 researchers from 24 countries has discovered over 1200 gene regions influencing blood pressure and generated a polygenic risk scores for hypertension published in Nature and Nature Genetics and recognised by two of the most prestigious prizes in cardiovascular research.

Genomics England
In 2013 I was asked to become Chief Scientist for Genomics England (GEL) to lead scientific strategy and delivery of the 100,000 Genomes Project. I drew on my extensive experience of collaborative working as a researcher, as an NIHR Biomedical Research Centre Director and Senior Investigator to create the vital coalition of 5000 healthcare professionals, 3400 researchers and 97,000 participants, in partnership with the NHS, to deliver the 100,000 Genomes Project on target creating the platform for a new Genomic Medicine Service (GMS).

Cardiovascular Clinical Research
I have undertake internationally leading translational and outcomes trials research e.g. the ASCOT trial, which changed international and NICE guidance for lipid lowering and hypertension and the PATHWAY Study which changed European Guidance.  From this Barts and The London now have a major clinical trials programme and a partnership with IQVIA where we coordinate and enhance clinical research across UCLP Partners Academic Health Sciences Centre.

Key Publications

For a full list of publications click here

* denotes joint last author and # denotes the corresponding author.

  • Postmus I, Trompet S, Deshmukh HA, Barnes MR, Li X, Warren HR, then 60 co-authors then Colhoun HM, Hitman G, Krauss RM, Wouter Jukema J*, Caulfield MJ*. Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. Nat Commun. 2014 Oct 28;5:5068. doi: 10.1038/ncomms6068.
  • Rapsomaniki E, Timmis A, George J, Pujades-Rodriguez M, Shah AD, Denaxas S, White IR, Caulfield MJ, Deanfield JE, Smeeth L, Williams B, Hingorani A, Hemingway H. Blood pressure and incidence of twelve cardiovascular diseases:
    lifetime risks, healthy life-years lost, and age-specific associations in 1·25 million people. Lancet. 2014 May 31;383(9932):1899-911. doi: 10.1016/S0140-6736(14)60685-1.
  • Kottgen A*, then  co-authors then Caulfield M*, Bochud M*, Geiger C*. Multiple Novel Loci Highlighting Metabolic Control of Urate Production and Excretion are Associated with Gout. Nature Genetics 2013. Feb;45(2):145-54. doi: 10.1038/ng.2500. Epub 2012 Dec 23.
  • Georg B. Ehret*, then 346 co-authors then Bruce M. Psaty*, Gonçalo R Abecasis*, Aravinda Chakravarti*, Paul Elliott*, Cornelia M. van Duijn*, Christopher Newton-Cheh*#, Daniel Levy*##, Mark J. Caulfield*##, Toby Johnson*. Genetic variants from novel pathways influence blood pressure and cardiovascular disease risk. Nature 2011;478 (7367):103-9. Voted top 5 paper in CV research and number 1 in stroke by the American Heart Association.
  • Louise V Wain*, then 248 co-authors- then Mark J Caulfield*, Dabeeru C Rao*, Martin D Tobin*#, Paul Elliott*#, Cornelia M van Duijn*#. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nature Genetics 2011; 43(10):1005-11.
  • Wellcome Trust Case Control Consortium. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls (Caulfield is a co-PI). Nature. 2010; 464 (7289):713-20.
  • Christopher Newton-Cheh*#, then 165 co-authors then Mark Caulfield*#, Patricia B Munroe*#. Eight blood pressure loci identified by genome-wide association study of 34,433 people. Nature Genetics 2009; 41:666-676. Voted American Heart Association Top ten paper in worldwide CV research in 2009
  • Caulfield MJ, et al. (2008) SLC2A9 is a high-capacity urate transporter in humans. PLoS Med 2008;  5(9): e197.
  • Wellcome Trust Case Control Consortium (Caulfield co-PI). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447:661-678. Voted Best Scientific Research Paper in the World in 2007 (by both Nature and Science).
  • Barter PJ, Caulfield M, etal. Effects of torcetrapib in patients at high risk for coronary events. New England Journal of Medicine. 2007 Nov 22;357(21):2109-22.

News

September 2016 
£6.5m grant to launch new heart disease Biomedical Research Centre (Queen Mary University of London)

August 2011
Blood pressure measured at home (BBC)