skip to content

The Gurdon Institute


2020 Perry

Prof. John R.B. Perry PhD, Associate Group Leader, MRC Investigator and Programme Leader (MRC Epidemiology Unit), Fellow and Director of Studies (King’s College Cambridge)


PubMed | EuropePMC | Google Scholar

Unit website | Twitter @jrbperry 


Using human genetics to understand disease mechanisms

Epidemiological studies have long linked patterns of early-life growth and reproductive ageing to later life diseases, however the biological mechanisms underpinning these associations remain unclear. For example, what are the pathways that link variation in age of puberty timing to risk of type 2 diabetes and cancer decades later?

To explore this, we use large-scale human population studies to identify genetic variants which influence risk of disease or contribute to variation in quantitative traits. Through integration with transcriptomic and proteomic datasets we can then prioritise genes and pathways for evaluation with experimental collaborators using animal and cellular models. 

My research is primarily based at the MRC Epidemiology Unit where I co-lead an MRC-funded programme with Professor Ken Ong. My affiliated position here at the Gurdon institute focusses on one of the key biological mechanisms emerging from our population-based research – DNA damage response (DDR). Although often considered in the context of cancer susceptibility, it is now clear that DDR processes influence other complex diseases and traits.

For example, our human genetics work has highlighted DDR as the major pathway governing reproductive ageing and fertility in women. We aim to better understand these processes; when they act over the life-course and how they might be modified to preserve fertility and prevent disease.


Selected publications: 

  • Ruth KS et al. (2020) Using human genetics to understand the disease impacts of testosterone in men and women. Nature Medicine 26: 252–258
  • Thompson DJ et al. (2019) Genetic predisposition to mosaic Y chromosome loss in blood. Nature 575: 652–657
  • Perry et al. (2014) Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature 514: 92–97


Not based at the Gurdon Institute

Ken Ong • Felix Day • Hana Lango Allen • Yajie Zhao • Stasa Stankovic