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Serena Nik-Zainal

Professor of Genomic Medicine and Bioinformatics, University of Cambridge

Serena qualified in medicine from the University of Cambridge in 2000. She undertook a PhD at the Wellcome Sanger Institute (WSI) in 2009 exploring breast cancer using whole genome sequencing (WGS). 

She demonstrated how detailed downstream analyses of all mutations present in WGS breast cancers could reveal mutation signatures, imprints left by mutagenic processes that have occurred through cancer development. In particular, she identified a novel phenomenon of localised hypermutation termed “kataegis”.

Serena was awarded a Wellcome Trust Intermediate Clinical Fellowship in 2013. She joined the Sanger Institute faculty team in 2014 and continued to develop particular expertise in the analysis and interpretation of WGS tumours. Apart from using computational approaches, she also studies mutational signatures experimentally using cell-based model systems.

Serena ran a clinical project, Insignia, recruiting patients with DNA repair/replication defects, aging syndromes and neurodegeneration, and people who have been exposed to environmental/occupational mutagens, to gain biological insights into mutational phenomena in these patients. Serena moved to the Department of Medical Genetics in 2017 in order to accelerate the translation of her genomics expertise towards clinical applications and to further her work into the physiological mechanisms underpinning mutagenesis.

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See also: Academia University of Cambridge - Collegiate research university in Cambridge, United Kingdom

Serena Nik-Zainal News

72% of Induced pluripotent stem cell lines were reported to have major UV damage

University of Cambridge - 11-Aug-2022

Whole genome sequencing-necessary to validate Stem cell lines used for therapy


Mutational signatures- a step closes to personalised cancer treatment

BBC - 21-Apr-2022

Instead of caterogising cancer based on the effected body part or type, whole-genome sequencing could be more practical