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 Prof Zondervan is 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 (176 million women worldwide and 1.5 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 (IEC) in which we are conducting the largest collaborative genome-wide association studies (GWAS) of endometriosis to date (e.g. Nature Genetics 2011& 2012; Nature Communications 2017). The consortium has recently expanded to 16 research centres contributing GWAS 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 18 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 biomarkers.
To this end, 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.
The Wellcome Trust; Medical Reseach Council, EU, US National Institutes of Health; World Endometriosis Research Foundation; Industry
Prof Krina Zondervan is interested in women's health conditions, particularly endometriosis. In women suffering from endometriosis, cells similar to those lining the uterus appear and flourish in areas outside the uterine cavity. Her group studies genetic, molecular and environmental factors influencing this complex disorder.