John Perry

Associate group leader

Research summary

Using human genetics to understand disease mechanisms

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

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To explore this, we use large-scale human population studies to identify genetic variants that 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 within the Institute of Metabolic Science where I co-lead an MRC-funded programme with Professor Ken Ong. My Associate position 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.

Diagram of John Perry's research activities

Overview of process to identify disease- and trait-associated alleles, genes and biological pathways using large-scale human population studies. Genetic variation is measured genome-wide in populations of research participants. Individual genetic variants associated with diseases and traits can then be identified through computational approaches, linked to gene function through the integration of ‘omics’ resources and further evaluated in downstream experimental models.

John Perry colour portrait

Selected publications

  • Lam BYH et al. (2021) MC3R links nutritional state to childhood growth and the timing of puberty. Nature 599: 436–441. DOI: 10.1038/s41586-021-04088-9.

    November 3, 2021

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  • Ruth KS et al. (2021) Genetic insights into biological mechanisms governing human ovarian ageing. Nature 596: 393–397. DOI:

    August 4, 2021

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  • Ruth KS et al. (2020) Using human genetics to understand the disease impacts of testosterone in men and women. Nat Med 26: 252–258. DOI: 10.1038/s41591-020-0751-5.

    February 10, 2020

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  • Thompson DJ et al. (2019) Genetic predisposition to mosaic Y chromosome loss in blood. Nature 575: 652–657. DOI:10.1038/s41586-019-1765-3.

    November 20, 2020

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  • Perry JRB et al. (2014) Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature 514: 92–97. DOI:

    July 23, 2014

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Professor John RB Perry PhD, Associate group leader, MRC Investigator and programme leader at the MRC Epidemiology Unit, Principal investigator at the Institute of Metabolic Science, University chair in Molecular Endocrinology

John is a human geneticist interested in understanding the genetic basis of variation in health and disease, with a focus on metabolic and reproductive traits. He holds the University of Cambridge chair of molecular endocrinology and is an Associate group leader here at the Gurdon Institute.

Prior to moving to Cambridge, he was a Sir Henry Wellcome Fellow, holding positions at the University of Exeter, Wellcome Trust Centre for Human Genetics (University of Oxford), Department of Twin Research (Kings College London) and the Center for Statistical Genetics (University of Michigan).