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Blizard Institute - Faculty of Medicine and Dentistry

Dr Diego Villar Lozano, PhD


Non-clinical Senior Lecturer

Telephone: 020 7882 2364


My research focuses on gene regulation in mammals, its underlying mechanisms in normal physiology and their alterations in human disease. I have led gene regulation studies across diverse research areas, such as hypoxia, neurodegeneration and mammalian evolution - my expertise encompasses molecular biology, functional genomics and bioinformatics.

My recent work leveraged novel genomic tools to study transcriptional processes at the whole-genome level (Nat. Rev. Gen. 2014, Cell 2015, Nat. Ecol. Evol. 2018). I am currently establishing my independent research group at the Blizard Institute, where we integrate genomic, molecular and functional approaches to study myocardial gene regulation and its impact on cardiovascular disease. This research aims to improve our understanding of the molecular genetics underpinning mammalian gene expression, and how perturbations in these mechanisms inform disease susceptibility and progression.


Research Lines at Dr. Diego Villar's Lab:  

1. Regulation of gene expression across mammals and its interplay with human genetic variation

2. Cardiovascular epigenetics and its role in cardiovascular disease

3. Functional genomics and bioinformatics 


Personal webpages:



Please contact me on if you want to learn more about this opportunities to join our group.



Dr. Villar graduated in Chemistry and Biochemistry (Universidad Autónoma de Madrid, Spain), and obtained a PhD in Molecular Biology with Prof. Luis del Peso, where he studied the signalling and gene expression response to hypoxia in mammalian cells. Also in Madrid, he trained as a postdoctoral scientist with Jose Ramón Naranjo at the National Biotechnology Centre to investigate transcriptional alterations in neurodegeneration. He then joined Dr. Duncan Odom’s laboratory at the Cambridge Institute, where he employed functional genomics approaches to investigate the evolution of transcriptional enhancers across mammals. In 2018 he was awarded a Basic Science Fellowship from the British Heart Foundation to establish his independent laboratory at the Blizard Institute (QMUL).


Group Members

Dr Stephanie Frost,, Postdoctoral Scientist, funded by the British Heart Foundation

Mr Yu Huang,, Master student from Regenerative Medicine MSc program.


Mr Daniel Ignacio Pavon Heredia,, CONACYT Master student from Regenerative Medicine MSc program (2018/19)

Ms Yiling Wan,, Nanchang/SBCS undergraduate project student (2019/20)





Research Interests:

Our group is interested in dissecting the molecular mechanisms underlying transcriptional dynamics in mammals, and how their alterations can lead to disease states in humans. We take an integrative approach to these questions by combining functional genomics, bioinformatics and genetic perturbations across ex vivo, in vitro and in vivo models. In particular, our work utilises extensive collections of banked mammalian tissue, human iPSC models and transgenic mouse models.

Current projects in the lab include:

  • Investigation of the non-coding contributions of human genetic variation in diseases of the heart muscle. This BHF-funded project strongly leverages my expertise in functional genomics and combines comparative, cellular and molecular approaches to characterise and functionally test transcriptional enhancers active in the myocardium and harbouring disease-associated variants in humans.
  • Identification of lineage-specific adaptations in African mole-rats, a subterranean rodent species adapted to stress. Funded by travel grants from EMBO and Cancer Research UK, this project stems from work I started in Cambridge and exploits my expertise in comparative genomics to identify lineage-specific enhancers in subterranean mole-rats that may influence their remarkable resistance to metabolic and cardiovascular stress.

Research Group

  • Stephanie Frost
  • Diego Fernandez Aroca


For a full list of publications, please see

* Co-first,  # Corresponding author


Berthelot C*, Villar D*, Horvath JE, Odom DT, Flicek P. “Complexity and conservation of regulatory landscapes underlies evolutionary resilience of mammalian gene expression” Nature Ecology & Evolution (2018) 2:152 Cited: 2

Villar D*, Berthelot C*, Aldridge S, Rayner TF, Lukk M, Pignatelli M, Park TJ, Deaville R, Erichsen JT, Jasinska AJ, Turner JM, Bertelsen MF, Murchison EP, Flicek P, Odom DT. “Enhancer evolution across 20 mammalian species” Cell (2015) 160(3):554-66 Cited: 203

      Highlighted in: Nature Genetics (2015) & Current Biology (2015)

Villar D, Flicek P, Odom DT. “Evolution of transcription factor  binding in metazoans – mechanisms and functional implications” Nature Reviews Genetics (2014) 15(4):221-33 [Review article]             Cited: 128

Villar D#, Ortiz-Barahona A, Gómez-Maldonado L, Pescador N, Sánchez-Cabo F, Hackl H, Rodriguez BAT, Trajanoski Z, Dopazo A, Yan PS, Huang THM and del Peso L. “Cooperativity of stress-responsive transcription factors in core hypoxia-inducible factor binding regions” PLoS One (2012) 7(9):e45708 Cited: 25

Ortiz-Barahona A*, Villar D*, Pescador N, Amigo J, del Peso L: “Genome-wide identification of hypoxia-inducible factor binding sites and target genes by a probabilistic model integrating transcription-profiling data and in silico binding site prediction” Nucleic Acids Research (2010) 38: 2332-45 Cited: 128


ORCID ID: 0000-0002-8614-6232



  • Adrian Rodriguez
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