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After an MSc in Biomedical Sciences (Cum Laude, 1995), at Leiden University, the Netherlands, I came to Oxford on an Erasmus exchange scholarship in 1993. After a DPhil (NDOG/DPH, St Edmund Hall, 1999) studying the epidemiology of chronic pelvic pain, I was awarded an MRC Training Research Fellowship in Genetic Epidemiology, based at the Wellcome Trust Centre for Human Genetics, which included an MSc in Genetic Epidemiology (Erasmus University Rotterdam, Netherlands, 2001) and research periods at the Queensland Institute for Medical Research, Australia and the Dept of Human Genetics, University of Pittsburgh, USA.
In 2007, I was awarded a Wellcome Trust Research Career Development Fellowship to set up my research group and in 2012 became Co-Director of the Endometriosis CaRe centre in Oxford (with Christian Becker). I was appointed as Senior Fellow at NDOG in 2014, and subsequently Professor of Reproductive and Genomic Epidemiology.
Other current roles include: Scientific Lead for Genetic Discovery & Translation in the Oxford University-Bayer Healthcare Endometriosis Alliance; Scientific Advisory Board member of the AcademiaNet, by Wellcome Trust Nomination).(Harvard Medical School, USA); Scientific Advisory Board member of ; Section Head Endometriosis, Faculty 1000; Scientific Advisory Board member for AbbVie Inc, Bayer HealthCare, and Roche Diagnostics. I am recognised as (
Ms Christine Dew (ENDOX Research Nurse)
Dr Karin Hellner (Clinical Lecturer & Postdoctoral Research Fellow)
Ms Carol Hubbard (ENDOX Research Nurse)
Dr Nilufer Rahmioglu (Senior Postdoctoral Research Fellow)
Dr Thomas Tapmeier (Postdoctoral Research Fellow)
Dr Outi Uimari (Clinical Academic Fellow)
Dr Carl Anderson (Postdoc); Dr Jianghai Lin (DPhil student/Postdoc); Dr Josine Min (Postdoc); Dr Kelechi Nnoaham (DPhil student); Dr Ketki Mhaski (MSc project student); Miss Emily Tough (Genetic Society student); Miss Annmarie Yesufu (MSc project student).
MSc DPhil (OXON)
Professor of Reproductive & Genomic Epidemiology, Co-Director Endometriosis CaRe Centre and Director of Graduate Studies
- Deputy Head of Department
My group works on understanding the pathogenesis of endometriosis and associated symptoms, through genomic, molecular, and environmental epidemiological research methods. We are based at NDOG (Endometriosis CaRe Centre, also comprising the Becker and Vincent groups) and the Wellcome Trust Centre for Human Genetics (WTCHG), and collaborate with a network of other research groups (inter)nationally.
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 (IEC) we have conducted the largest collaborative genome-wide association studies (GWAS) of endometriosis to date, involving >4,000 women with endometriosis and >10,000 controls, identifying a number of DNA variants. In addition to continued genetic discovery work, we are now exploring what biological pathways these variants 'signpost', and how findings can aid discovery of novel treatment targets and biomarkers. 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 - such as our ENDOX study (jointly led with Christian Becker), and through collaborations within the WERF EPHect network.
The Wellcome Trust, The Medical Research Council, World Endometriosis Research Foundation
Prof Joseph Kemnitz, Dept of Cell & Regenerative Biology, Wisconsin National Primate Research Center, University of Wisconsin-Madison, Madison, USA.
Prof Stacey Missmer, Division of Reproductive Medicine / Boston Center for Endometriosis, Brigham and Women’s Hospital and Harvard Medical School, Harvard University, Boston, USA.
Prof Grant Montgomery, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Prof Andrew Morris & Dr Dharani Hapangama, Depts of Biostatistics/Women's and Children's Health, University of Liverpool.
Prof Jeffrey Rogers, Dept of Molecular and Human Genetics, Human Genome Sequencing Center, Baylor College of Medicine, Houston, USA.
Prof Andres Salumets & Dr Reedik Magi, Dept of Obstetrics & Gynaecology, University of Tartu, Estonia.
Prof Philippa Saunders & Prof Andrew Horne, MRC Centre for Reproductive Health, University of Edinburgh.
Prof Tim Spector, Department of Twin Research and Genetic Epidemiology, Kings College, London
Oxford University - Bayer HealthCare Translational Alliance in endometriosis and uterine fibroids
Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci.
Rahmioglu N. et al, (2015), Hum Mol Genet, 24, 1185 - 1199
Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets.
Rahmioglu N. et al, (2014), Hum Reprod Update, 20, 702 - 716
Genome-wide association meta-analysis identifies new endometriosis risk loci
Nyholt DR. et al, (2012), Nature Genetics, 44, 1355 - 1359
Coexpression network analysis in abdominal and gluteal adipose tissue reveals regulatory genetic loci for metabolic syndrome and related phenotypes.
Min JL. et al, (2012), PLoS Genet, 8
Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.
Painter JN. et al, (2011), Nat Genet, 43, 51 - 54
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.
Telomeres Mendelian Randomization Collaboration None. et al, (2017), JAMA Oncol, 3, 636 - 651
Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis.
Uimari O. et al, (2017), Hum Reprod, 32, 780 - 793
Genome-wide analysis identifies 12 loci influencing human reproductive behavior
Mills MC. and Barban N., (2016), Nature Genetics
recent insights on the genetics and epigenetics of endometriosis.
Borghese B. et al, (2016), Clin Genet
Uterine fibroids and cardiovascular risk.
Uimari O. et al, (2016), Hum Reprod