Elena Bochukova

Title: Dr
MSc, DPhil(Oxon)
Lecturer in Genomics

Our main focus is on RNA-mediated 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, severe obesity in particular, and adopt functional genomic approaches to characterise these variants, based on a combination of high throughput transcription profiling, molecular biology, bioinformatics and genetics. We are developing relevant cellular models to streamline the analysis of variants and identify their role in metabolic disease.



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 (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 (www.goos.org.uk). 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.


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.


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: http://www.researchpublications.qmul.ac.uk


Centre for Genomics and Child Health

Blizard Institute

Barts and The London School of Medicine and Dentistry

Blizard Building

4 Newark Street

London E1 2AT

Tel: +44 (0) 207 882 2362

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