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Dr Dirk Paul

Dr Dirk Paul

University Lecturer in Integrative Human Genomics

Office Phone: 01223 761918

Research Interests

Functional genomics of cardiovascular diseases

Our mission is to identify and characterise causal biological pathways in cardiovascular disease.

Population-level genetic analysis has transformed our understanding of the contribution of genetic variation to cardiovascular disease, the leading global cause of mortality. However, a major challenge in unlocking the potential of these genomic studies is in uncovering the molecular chain of events from genetic variation to clinical events.

To tackle this challenge, we combine systematic computational and experimental approaches to expose new mechanisms leading to atherosclerosis, the major cause of cardiovascular disease. We apply cutting-edge technology, including human induced pluripotent stem cells, CRISPR/Cas9 genome editing in cellular models, and recall-by-genotype mechanistic studies in healthy volunteers, to elucidate the molecular, cellular, and physiological underpinnings of candidate causal variants and genes.

Our efforts, which integrate genetic epidemiology, functional genomics/epigenomics, and clinical medicine, facilitate a better understanding of the aetiology of cardiovascular disease to inform the development of new therapeutics.


BLUEPRINT ; epigenomics ; transcriptomics ; RNA sequencing ; genetics ; functional genomics ; cardiovascular genomics ; INTERVAL ; genome biology ; genomics ; cardiovascular biology ; iPSC ; cardiovascular epidemiology ; CRISPR-Cas9 ; bioinformatics ; High Dimensional Genomics ; gene regulation ; cardiovascular disease

Key Publications

*joint first author, #joint last author

Paige E*, Clément M*, Lareyre F, Sweeting M, Raffort J, Grenier C, Finigan A, Harrison J, [...], Freitag DF#, Paul DS# & Mallat Z# (2019). Interleukin-6 receptor signalling and abdominal aortic aneurysm growth rates. Circ. Genom. Precis. Med. 12(2), e002413.

Alasoo K, Rodrigues J, Danesh J, Freitag DF, Paul DS# & Gaffney DJ# (2019). Genetic effects on promoter usage are highly context-specific and contribute to complex traits. eLife 8, e41673.

Stacey D, Fauman EB, Ziemek D, Sun BB, Harshfield EL, Wood AM, Butterworth AS, Suhre K & Paul DS (2019). ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci. Nucleic Acids Res. 47(1), e3.

Sun BB*, Maranville JC*, Peters JE*, Stacey D, Staley JR, Blackshaw J, Burgess S, Jiang T, [...], Paul DS, Fox CS, Plenge RM, Danesh J, Runz H# & Butterworth AS# (2018). Genomic atlas of the human plasma proteome. Nature 558(7708), 73-9.

Farahi N*, Paige E*, Balla J, Prudence E, Ferreira RC, Southwood M, Appleby SL, Bakke P, [...], Danesh J, Paul DS, Freitag DF# & Chilvers ER# (2017). Neutrophil-mediated IL-6 receptor trans-signaling and the risk of chronic obstructive pulmonary disease and asthma. Hum. Mol. Genet. 26(8), 1584-96.

Ecker E, Chen L, Pancaldi V, Bagger FO, Fernández JM, Carrillo de Santa Pau E, Juan D, Mann AL, [...], Rico D#, Valencia A#, Beck S#, Soranzo N# & Paul DS# (2017). Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types. Genome Biol. 18(1), 18.

Chen L*, Ge B*, Casale FP*, Vasquez L*, Kwan T, Garrido-Martín D, Watt S, Yang Y, [...], Paul DS, Stunnenberg HG, Stegle O, Downes K, Pastinen T# & Soranzo N# (2016). Genetic drivers of epigenetic and transcriptional variation in human immune cells. Cell 167(5), 1398–1414.

Paul DS*, Teschendorff AE*, Dang MA*, Lowe R*, Hawa MI, Ecker S, Beyan H, Cunningham S, [...], Rakyan VK#, Beck S# & Leslie RD# (2016). Increased DNA methylation variability in type 1 diabetes across three immune effector cell types. Nature Commun. 7, 13555.

To see a list of all publications, please click here.

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