Professor of Reproductive and Genomic Epidemiology
My research group works on understanding the pathogenesis of women's health conditions - in particular endometriosis and related symptoms - through genomic, molecular, and environmental epidemiological research methods. We are based both at the Wellcome Trust Centre for Human Genetics (WTCHG) and the Nuffield Dept of Obstetrics & Gynaecology (NDOG), where I am co-Director of the 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. With the International Endogene Consortium, we have discovered 7 of the now 9 known genetic risk variants for endometriosis, in genome-wide association studies involving >5,500 cases and >10,000 controls. Current work includes further extensions of our genetic discovery work, and understanding the functionality of the loci and their relevance to drug target and biomarker discovery through integrated analyses of rich phenotypic data and biological samples collected in our ENDOX study. I am Principal Investigator of WERF EPHect (Endometriosis Phenome and Biobanking Harmonisation Project), bringing together 30+ academic and 3 industrial partners to develop a global concensus on phenotypic and epidemiological data collection as well as standard operating protocols for collection, processing and long-term storage of biological samples for research into endometriosis (www.endometriosisfoundation.org/ephect).
Funding: The Wellcome Trust; MRC; NIH; World Endometriosis Research Foundation; European Public Health Programme.
Amine oxidase 3 is a novel pro-inflammatory marker of oxidative stress in peritoneal endometriosis lesions
Thézénas M-L. et al, (2020), Scientific Reports, 10
Genome-wide association analysis and replication in 810,625 individuals identifies novel therapeutic targets for varicose veins
Ahmed W-U-R. et al, (2020)
Zondervan KT. et al, (2020), New England Journal of Medicine, 382, 1244 - 1256
Author Correction: Amine oxidase 3 is a novel pro-inflammatory marker of oxidative stress in peritoneal endometriosis lesions.
Thézénas M-L. et al, (2020), Scientific reports, 10
Protocol for a longitudinal, prospective cohort study investigating the biology of uterine fibroids and endometriosis, and patients' quality of life: the FENOX study.
Tapmeier TT. et al, (2020), BMJ open, 10