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Cambridge Cardiovascular



Functional genomics of cardiovascular diseases

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

Population-scale genomic analyses have transformed our understanding of the contribution of genetic variation to the risk of cardiovascular disease, the leading cause of death worldwide. 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 translate the genetic associations into causal biology. We apply cutting-edge technology to elucidate the molecular, cellular and physiological underpinnings of candidate causal variants and genes, including CRISPR/Cas9 genome editing in cellular models and recall-by-genotype mechanistic studies in healthy volunteers.

Our work, which integrates genetic epidemiology, functional genomics/epigenomics and clinical medicine, enables a better understanding of the aetiology of cardiovascular disease and informs the development of new therapeutics.


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.

Honorary Visiting Fellow in Integrative Genomics
Dirk Paul


Person keywords: 
RNA sequencing
functional genomics
cardiovascular genomics
genome biology
cardiovascular biology
cardiovascular epidemiology
High Dimensional Genomics
gene regulation
cardiovascular disease