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Integration of genetic, molecular, and environmental epidemiological research methods in uncovering the aetiology of benign women's health conditions.

Research overview

Our group focuses on the integration of genetic, molecular, and environmental epidemiological research methods in uncovering the aetiology of benign women's health conditions that carry a substantial public health burden. We are based both at the Wellcome Centre for Human Genetics (WCHG) and the Nuffield Dept of Women's and Reproductive Health in Oxford where Professor Zondervan is Head of Department and Co-Director of the Oxford Endometriosis CaRe Centre.

Endometriosis is a common, poorly understood chronic inflammatory condition in women of reproductive age, involving the presence of endometrial-like cells in extra-uterine pelvic sites. The condition causes pain and sub-fertility; is estimated to affect 5-10% of women in their reproductive years (190 million women worldwide and 1.6 million in the UK); has limited diagnostic and treatment options; and has a major impact on health-related quality of life of sufferers and their families.

Heritable factors are involved in endometriosis risk. Identifying which DNA variants underlie this heritability will improve our understanding of pathogenesis and inform treatment development. We lead the International Endometriosis Genome Consortium (IEGC) in which we are conducting the largest collaborative genetic studies of endometriosis to date (e.g. Nature Genetics 2011& 2012; Nature Communications 2017; Sci Transl Med 2021). The consortium has recently expanded to 16 research centres contributing data on over 60,000 women with endometriosis.

In addition to continued genetic discovery work, we have led a large global initiative in endometriosis research to develop standardised deep phenotyping tools and sample collection protocols (WERF EPHect); these are implemented so far in 50 endometriosis research centres worldwide. In the Endometriosis CaRe centre we are currently using WERF EPHect-compliant data and samples from women attending our centre to explore what biological pathways implicated genetic variants 'signpost', and how findings can aid discovery of novel treatment targets and non-invasive diagnostic markers.

Within the Centre we have established a programme of translational research and have very strong links with industry partners to allow translation of our research findings, for example through our Bayer AG - Oxford Scientific Alliance in Gynaecological Therapies. This work is made possible through the much appreciated involvement of many women with and without the disease, who contribute information and samples to our studies and through our many collaborations internationally.

Funding sources

The Wellcome Trust; Medical Research Council, EU, US National Institutes of Health; World Endometriosis Research Foundation; Industry

Our team

Selected publications

Related research themes