Dr Dirk Paul | Visiting Scientist

Paul, Dirk

Dirk's research focuses on the translation of genomic discoveries in cardiovascular and immune-related diseases into biological and clinical insights.

The aim of my research is to identify and characterise causal biological pathways in cardiovascular disease. We integrate computational analyses and cutting-edge experimental strategies to uncover the molecular, cellular and physiological mechanisms underlying genetic associations with cardiovascular disease.

I graduated with a BSc and MSc in Life Science from the University of Konstanz (Germany) in 2008. With the support of Marie Curie and Wellcome Trust Fellowships, I completed a PhD in Molecular Biology and Genetics under the supervision of Prof Panos Deloukas at the Wellcome Sanger Institute in 2012, where I combined experimental and computational approaches to uncover the molecular mechanisms of genetic variants associated with haematological traits. I did postdoctoral studies in epigenomics of immune-related diseases in Prof Stephan Beck's laboratory at University College London as part of the BLUEPRINT Consortium. In 2015, I joined the Cardiovascular Epidemiology Unit at the University of Cambridge as University Lecturer in Integrative Genomics.

Publications

  • Interleukin-6 Receptor Signaling and Abdominal Aortic Aneurysm Growth Rates.

    Paige E, Clément M, Lareyre F, Sweeting M, Raffort J et al.

    Circulation. Genomic and precision medicine 2019;12;2;e002413

  • ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci.

    Stacey D, Fauman EB, Ziemek D, Sun BB, Harshfield EL et al.

    Nucleic acids research 2019;47;1;e3

  • Genomic atlas of the human plasma proteome.

    Sun BB, Maranville JC, Peters JE, Stacey D, Staley JR et al.

    Nature 2018;558;7708;73-79

  • Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types.

    Ecker S, Chen L, Pancaldi V, Bagger FO, Fernández JM et al.

    Genome biology 2017;18;1;18

  • Increased DNA methylation variability in type 1 diabetes across three immune effector cell types.

    Paul DS, Teschendorff AE, Dang MA, Lowe R, Hawa MI et al.

    Nature communications 2016;7;13555

  • Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.

    Chen L, Ge B, Casale FP, Vasquez L, Kwan T et al.

    Cell 2016;167;5;1398-1414.e24

  • Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci.

    Paul DS, Albers CA, Rendon A, Voss K, Stephens J et al.

    Genome research 2013;23;7;1130-41

  • Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

    Albers CA, Paul DS, Schulze H, Freson K, Stephens JC et al.

    Nature genetics 2012;44;4;435-9, S1-2

  • Deciphering the genomic, epigenomic, and transcriptomic landscapes of pre-invasive lung cancer lesions.

    Teixeira VH, Pipinikas CP, Pennycuick A, Lee-Six H, Chandrasekharan D et al.

    Nature medicine 2019;25;3;517-525

  • Interleukin-6 Receptor Signaling and Abdominal Aortic Aneurysm Growth Rates.

    Paige E, Clément M, Lareyre F, Sweeting M, Raffort J et al.

    Circulation. Genomic and precision medicine 2019;12;2;e002413

  • ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci.

    Stacey D, Fauman EB, Ziemek D, Sun BB, Harshfield EL et al.

    Nucleic acids research 2019;47;1;e3

  • Genetic effects on promoter usage are highly context-specific and contribute to complex traits.

    Alasoo K, Rodrigues J, Danesh J, Freitag DF, Paul DS and Gaffney DJ

    eLife 2019;8

  • Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

    Maher GJ, Ralph HK, Ding Z, Koelling N, Mlcochova H et al.

    Genome research 2018;28;12;1779-1790

  • Cell and tissue type independent age-associated DNA methylation changes are not rare but common.

    Zhu T, Zheng SC, Paul DS, Horvath S and Teschendorff AE

    Aging 2018;10;11;3541-3557

  • Increased DNA methylation variability in rheumatoid arthritis-discordant monozygotic twins.

    Webster AP, Plant D, Ecker S, Zufferey F, Bell JT et al.

    Genome medicine 2018;10;1;64

  • Tensorial blind source separation for improved analysis of multi-omic data.

    Teschendorff AE, Jing H, Paul DS, Virta J and Nordhausen K

    Genome biology 2018;19;1;76

  • Genomic atlas of the human plasma proteome.

    Sun BB, Maranville JC, Peters JE, Stacey D, Staley JR et al.

    Nature 2018;558;7708;73-79

  • Risk thresholds for alcohol consumption: combined analysis of individual-participant data for 599 912 current drinkers in 83 prospective studies.

    Wood AM, Kaptoge S, Butterworth AS, Willeit P, Warnakula S et al.

    Lancet (London, England) 2018;391;10129;1513-1523

  • Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

    Corbin LJ, Tan VY, Hughes DA, Wade KH, Paul DS et al.

    Nature communications 2018;9;1;711

  • Epigenetic and Transcriptional Variability Shape Phenotypic Plasticity.

    Ecker S, Pancaldi V, Valencia A, Beck S and Paul DS

    BioEssays : news and reviews in molecular, cellular and developmental biology 2018;40;2

  • Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms.

    Howson JMM, Zhao W, Barnes DR, Ho WK, Young R et al.

    Nature genetics 2017;49;7;1113-1119

  • Neutrophil-mediated IL-6 receptor trans-signaling and the risk of chronic obstructive pulmonary disease and asthma.

    Farahi N, Paige E, Balla J, Prudence E, Ferreira RC et al.

    Human molecular genetics 2017;26;8;1584-1596

  • Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.

    Cheung WA, Shao X, Morin A, Siroux V, Kwan T et al.

    Genome biology 2017;18;1;50

  • Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types.

    Ecker S, Chen L, Pancaldi V, Bagger FO, Fernández JM et al.

    Genome biology 2017;18;1;18

  • UroMark-a urinary biomarker assay for the detection of bladder cancer.

    Feber A, Dhami P, Dong L, de Winter P, Tan WS et al.

    Clinical epigenetics 2017;9;8

  • Increased DNA methylation variability in type 1 diabetes across three immune effector cell types.

    Paul DS, Teschendorff AE, Dang MA, Lowe R, Hawa MI et al.

    Nature communications 2016;7;13555

  • The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

    Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D et al.

    Cell 2016;167;5;1415-1429.e19

  • The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery.

    Stunnenberg HG, International Human Epigenome Consortium and Hirst M

    Cell 2016;167;5;1145-1149

  • Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.

    Chen L, Ge B, Casale FP, Vasquez L, Kwan T et al.

    Cell 2016;167;5;1398-1414.e24

  • eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data.

    Breeze CE, Paul DS, van Dongen J, Butcher LM, Ambrose JC et al.

    Cell reports 2016;17;8;2137-2150

  • PhenoScanner: a database of human genotype-phenotype associations.

    Staley JR, Blackshaw J, Kamat MA, Ellis S, Surendran P et al.

    Bioinformatics (Oxford, England) 2016;32;20;3207-3209

  • Correlation of an epigenetic mitotic clock with cancer risk.

    Yang Z, Wong A, Kuh D, Paul DS, Rakyan VK et al.

    Genome biology 2016;17;1;205

  • Quantitative comparison of DNA methylation assays for biomarker development and clinical applications.

    BLUEPRINT consortium

    Nature biotechnology 2016;34;7;726-37

  • A donor-specific epigenetic classifier for acute graft-versus-host disease severity in hematopoietic stem cell transplantation.

    Paul DS, Jones A, Sellar RS, Mayor NP, Feber A et al.

    Genome medicine 2015;7;128

  • Advances in epigenome-wide association studies for common diseases.

    Paul DS and Beck S

    Trends in molecular medicine 2014;20;10;541-3

  • Assessment of RainDrop BS-seq as a method for large-scale, targeted bisulfite sequencing.

    Paul DS, Guilhamon P, Karpathakis A, Butcher LM, Thirlwell C et al.

    Epigenetics 2014;9;5;678-84

  • Functional interpretation of non-coding sequence variation: concepts and challenges.

    Paul DS, Soranzo N and Beck S

    BioEssays : news and reviews in molecular, cellular and developmental biology 2014;36;2;191-9

  • Assessment of patient-derived tumour xenografts (PDXs) as a discovery tool for cancer epigenomics.

    Guilhamon P, Butcher LM, Presneau N, Wilson GA, Feber A et al.

    Genome medicine 2014;6;12;116

  • Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci.

    Paul DS, Albers CA, Rendon A, Voss K, Stephens J et al.

    Genome research 2013;23;7;1130-41

  • Seventy-five genetic loci influencing the human red blood cell.

    van der Harst P, Zhang W, Mateo Leach I, Rendon A, Verweij N et al.

    Nature 2012;492;7429;369-75

  • A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site.

    Nürnberg ST, Rendon A, Smethurst PA, Paul DS, Voss K et al.

    Blood 2012;120;24;4859-68

  • Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

    Albers CA, Paul DS, Schulze H, Freson K, Stephens JC et al.

    Nature genetics 2012;44;4;435-9, S1-2

  • Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits.

    Paul DS, Nisbet JP, Yang TP, Meacham S, Rendon A et al.

    PLoS genetics 2011;7;6;e1002139

Paul, Dirk
Dirk's Timeline
2019

Sanofi Innovation Award

2015

Appointed University Lecturer, University of Cambridge

Visiting Scientist, Wellcome Sanger Institute

2013

Postdoctoral Research Associate, UCL Cancer Institute

2012

PhD in Molecular Biology and Genetics, University of Cambridge

2008

MSc in Life Science, University of Konstanz (Germany)

2006

BSc in Life Science, University of Konstanz (Germany)