Dr Elena Bochukova, DPhil(Oxon), FHEA

Profile

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 (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.

 

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

 

Summary

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.

 

Teaching

Undergraduate

MBBS

Intercalated BSc in Experimental Pathology (Intercalated)

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

 

Postgraduate

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

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 Barts Cherity, Royal Society and the Wellcome Trust.

Research Group

• Sadaf Ambreen
• Xiaoyang Dai

 

Publications

Key Publications

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. 24(5-6):453-464

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. Mol Metab vol. 6, (11) 1419-1428

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, 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

All Publications