Professor Martin Taylor

Group Leader


Martin is interested in understanding how new DNA sequence changes arise and the consequences of those changes for human health. Many of the insights come from investigating the record of past evolution, using "the light of evolution" to explore the human genome. His main aims are centred around three interlinked themes: of Understanding mutational processes, interpretation of genetic variation and the evolution of gene regulation.

His major findings include the discovery that DNA lesions (damaged bases) segregate unrepaired into daughter cells for multiple generations, thereby generating combinatorial genetic diversity that has profound implications for the evolution and adaptation of cancer genomes (Aitken et al, Nature 2020). He also showed that the rapid binding of transcription factors to DNA during replication traps the primers leading to a locally elevated mutation rate – a mutational burden for functional activity (Reijns et al, Nature, 2015; Kaiser et al, PLoS Genetics 2016). One important implication is that regulatory sites in DNA are hotspots for inherited detrimental mutations and for regulatory changes in cancer (Kaiser et al, PLoS Genetics 2016).

Relating DNA sequence changes to altered gene regulation, Martin was the first to demonstrate the frequent gain and loss of functional promoters through evolutionary time (Forrest et al, Nature 2014; Young et al, Genome Research 2015) and discovered that mutation rates are elevated specifically within core promoters (Young et al, Genome Research 2015; Schroder et al, PNAS 2012). This informs not just where mutations occur but when they matter. It speaks to one of the most pressing challenges in human genetics, identifying those mutations that have a biological effect, such as disease susceptibility, from the many more that don’t seem to influence traits.

Prior to establishing the group in Edinburgh, Martin worked at the EMBL, European Bioinformatics Institute (EBI), with Dr Nick Goldman on the application of evolutionary models to understand genome evolution. Before this he was at the Wellcome Trust Centre for Human Genetics, at the University of Oxford, with Professor Richard Mott providing bioinformatics support to multiple research groups and pursuing his own research interests in evolutionary genomics. Martin maintained active participation in the international FANTOM consortium through each of these positions. During his PhD studites, Martin worked with Professor David Porteous on the characterisation of a chromosomal translocation that segregated with major mental illness, contributing to the discovery of the DISC1 gene. He obtained a BSc (hons, 1st) in Genetics from the University of Liverpool.



Doctor of Philosophy (PhD), University of Edinburgh Comparative and molecular characterisation of a schizophrenia susceptibility locus

Bachelor of Science (BSc), University of Liverpool

Responsibilities & affiliations

Honorary Treasurer of The Genetics Society 2017-2021

Academic Steering Group of the Precision Medicine Doctoral Training Programme


Open to PhD supervision enquiries?


Current PhD students supervised

Lucy Scott | Primary supervisor

John Connelly (ECAT - clinical) | Primary supervisor

Harvinder Gala | Secondary supervisor

Juliet Luft | Primary supervisor

Kathryn Jackson-Jones | Joint supervisor

Thomas Williams (ECAT - clinical) | Primary supervisor

Past PhD students supervised

Jonathan Moody | Primary supervisor

Lana Talmane | Primary supervisor

Harriet Kemp | Primary supervisor

Sara Perricone | Joint supervisor

Niam Ryan | Second supervisor

Jo Pethick | Primary supervisor

Sarah Rennie | Primary supervisor

Research summary

Genetic mutations provide the raw material for evolution, they are responsible for heritable disease and driving the development of cancer. We are interested in understanding how new DNA sequence changes arise and the consequences of those changes for human health. Our main aims are structured around three interlinked themes:

Understanding mutational processes Why DNA changes occur where they do, the patterns created and identifying hotspots for mutation.

Interpretation of genetic variation Which DNA changes contribute to meaningful differences between individuals such as disease state or disease risk, and which are of little consequence?

The evolution of gene regulation Understanding how gene regulation evolves and the effect of DNA sequence changes in controlling when genes are switched on.

View all 78 publications on Research Explorer