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Blizard Institute - Barts and The London

Dr Elena Bochukova, MSc, DPhil(Oxon)


Lecturer in Genomics

Centre: Centre for Genomics and Child Health

Telephone: +44 (0)20 7882 2362



Elena Bochukova completed her DPhil in Human Genetics at the University of Oxford under the supervision of Professor Anthony Monaco, focusing on gene regulation. Her post-doctoral training was carried out at the University of Oxford under the mentorship of Professor Andrew Wilkie (Weatherall Institute of Molecular Medicine), where she utilised genetic and functional genomics methodologies to study craniofacial disorders. She then moved to Cambridge, where under the mentorship of Professor Sadaf Farooqi and Prof Steve O’Rahilly (WT-MRC Institute for Metabolic Science), and in close collaboration with colleagues form the Sanger Institute, she applied variety of gene discovery approaches to cohort of severely obese patients ( These included copy-number variation (CNV), genome-wide association studies (GWAS) and next-generation sequencing, and lead to identification of multiple novel obesity-contributing common and rare genetic variants. Continuing her long-standing interest in gene regulation, she also lead on functional characterisation of human obesity-associated genetic variation affecting non-protein coding DNA and RNA.

Elena joined the Blizard Institute in 2016 as a Group leader and Lecturer in Genomics.


Further information


  • Galton Institute, Trustee on Council and Fellow
  • Artemis Trust, Trustee and Grant committee chair
  • Frontiers of Genetics, Associate Editor
  • British Society for Neuroendocrinology, member
  • Society for Endocrinology, member
  • American Society of Human Genetics, member
  • European Society of Human Genetics, member
  • Human Genome Organisation (HUGO), member



Our main focus is on RNA-mediated and chromatin-mediated (epigenetic) mechanisms in metabolic disease. These include both post-transcriptional RNA gene regulation (splicing and editing phenomena), as well as the role of noncoding RNAs. We study noncoding genetic variation linked to metabolic disease, obesity in particular, and adopt functional genomic approaches to characterise these variants, based on a combination of high throughput next-generation sequencing, epigenetics, stem cell modelling and molecular biology approaches. We are developing relevant genome-edited stem cell models to streamline the analysis of variants and identify their role in metabolic disease.






Intercalated BSc in Experimental Pathology (Intercalated)

BSc in Biomedical sciences – PBLs and lectures in Molecular Basis of Personalised Medicine (BMD383)



MSc in Regenerative Medicine


PhD students

Dr Bochukova is pleased to consider applications from prospective PhD students.


Lab experience placements

Dr Bochukova is pleased to consider applications for prospective lab placements.


Research Interests:

Human genetic variation affecting the non-protein coding part of the genome is the next hurdle in deciphering its function. The application of genome-wide association studies (GWAS) to common human traits has revealed that most associations arise in non-coding DNA and implicate regulatory variants that modulate gene expression. In addition, the development of high-throughput sequencing technologies has enabled the detection of increasing amount of transcribed noncoding RNA (ncRNA) of various length and function. There is a growing recognition that many of these ncRNAs also play an active role in gene regulation and are relevant to both normal and diseased cell states. In human genetics, they present a distinct mutational mechanism in disease, which requires employment of functional genomics tools to be investigated, and ultimately may lead to development of novel therapeutic avenues. Bochukova group is studying the role of chromatin regulation and deregulation in obesity related human tissues, as well as the role of obesity-associated genome variation using stem cell-derived genome-edited models and genomics technologies.

Current projects in the lab are funded by the Royal Society and the Wellcome Trust.

Group Lab Members:

Dr Xiaoyang Dai, Postdoctoral Research Assistant

Ms Rachel Wilson, PhD Student




Bergamaschi D, Vossenkamper A, Lee WYJ, Wang P, Bochukova E, Warnes G (2019). Simultaneous polychromatic flow cytometric detection of multiple forms of regulated cell death. Apoptosis, in press

Bochukova EG, Lawler K, Croizier S, Keogh JM, Patel N, Strohbehn G, Lo KK, Humphrey J et al.(2018). A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome. Cell Rep vol. 22, (13) 3401-3408.

Bochukova EG*, Moir L*, Dumbell R, Banks G, Bains RS, Nolan PM, Scudamore C, Simon M et al.(2017). Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety. Molecular Metabolism vol. 6, (11) 1419-1428.

Hendricks AE*, Bochukova EG*, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V et al.(2017). Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. Sci Rep vol. 7, (1) 4394-4394.

Schoenmakers E, Carlson B, Agostini M, Moran C, Rajanayagam O, Bochukova E, Tobe R, Peat R, Gevers E, Muntoni F, Guicheney P, Schoenmakers N, Farooqi S, Lyons G, Hatfield D, Chatterjee K. Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis. J Clin Invest. 2016 Mar 1;126(3):992-6

Wheeler E, Bochukova EG, Huang N, Keogh JM, Lindsay S, Garg S, Henning E, Blackburn H, Loos RJ, Wareham NJ, O'Rahilly S, Hurles ME, Barroso I, Farooqi IS. Genome-wide SNP and CNV analysis identifies novel common and low frequency variants associated with severe early obesity. Nat Genet. 2013 May;45(5):513-7

 Bochukova E*, Schoenmakers N*, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JW, Bain M, Lindley K, Muntoni F, Vargha-Khadem F, Dattani M, Farooqi IS, Gurnell M, Chatterjee K.A mutation in the thyroid hormone receptor alpha gene. N Engl J Med. 2012;366(3):243-9

Bochukova EG, Doche ME, Su HW, Pearce LR, Keogh JM, Henning E, Cline JM, Saeed S, Dale A, Cheetham T, Barroso I, Argetsinger LS, O'Rahilly S, Rui L, Carter-Su C, Farooqi IS. SH2B1 Mutations Are Associated With Maladaptive Behavior And Obesity. J Clin Invest. 2012; 122(12):4732-6

Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J, Clayton-Smith J, O'Rahilly S, Hurles ME, Farooqi IS. Large, rare chromosomal deletions associated with severe early-onset obesity. Nature. 2010 463(7281):666-70

Bochukova EG, Soneji S, Wall SA, Wilkie AO. Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. J Med Genet. 2010 Dec;47(12):803-8.

Bochukova EG*, Merrill AE*, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AO, Maxson RE Jr. Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Hum Mol Genet. 2006;15(8):1319-28.

Bochukova, E.G., Jefferson, A., Francis, M.J. and Monaco, A.P. Genomic studies of gene expression: Regulation of the Wilson disease gene. Genomics. 2003 Jun;81(6):531-42.

View all Elena Bochukova's Research Publications at: