For Non-Scientists
Our group works towards uncovering the genetic and environmental background of endometriosis and related women's health conditions, through population-based (epidemiological) studies. Endometriosis is a very common condition in women, affecting up to 10% of women in their reproductive years. It is characterised by cells that normally line the womb - forming the ‘endometrium' - being present in sites outside the womb, mainly on organs in the pelvic area (ovaries, ligaments, bowel, bladder). It can cause severe pelvic pain and infertility, and can only be reliably diagnosed through surgery.
Despite being a major women's health problem, the causes of endometriosis are still unknown. Endometriosis has a major impact on health-related quality of life and work productivity, with treatment options limited to hormonal drugs, surgical removal of endometriosis deposits and, if necessary, removal of the pelvic organs. In 2002, the annual direct and indirect economic costs of endometriosis in the US alone were estimated between $2.3 and $22 billion, 3 to 25 times higher than - for example - Crohn's disease, and similar to migraine.
Our studies, and those of others, have shown that endometriosis is caused by both genetic and environmental factors. There is strong evidence from family studies both in humans and non-human primates that endometriosis is heritable. To date, however, it is unclear exactly which genetic variants influence a woman's risk of endometriosis. The role of environmental factors also remains largely unknown.
Specific projects that our group is working on include:
- Large-scale, collaborative studies aimed at finding genes involved in endometriosis. Experience from other studies has shown that this work generally requires thousands of individuals to find genes involved. To this end, the Oxford-based OXEGENE study has joined forces with the Queensland Institute for Medical Research in Australia and Harvard University in the US, to form the International Endogene Consortium, together involving >5,500 women with endometriosis.
- Genetic and environmental analyses in a large pedigree of rhesus macaques. The rhesus macaque is one of the few species that, like humans, develops endometriosis spontaneously. Comparative DNA analysis of rhesus macaques and humans allows us to investigate common genes involved in the disease process.
- Multi-centre studies to investigate the global impact and risk-factors for endometriosis, and the predictive value of symptoms in establishing a diagnosis. For these studies, women in 23 centres world-wide who are attending for their first laparoscopy are being recruited. Information collected through online and paper-based questionnaires will help in understanding how endometriosis affects women in different countries.
- Understanding the action of genes on disease through joint epidemiological studies of genes, molecules, and environment. Finding genes that increase risk of disease is only a first step in understanding the causes of disease. To ultimately find better methods for diagnosis and treatment, we need to understand how genes act, through complex biological mechanisms. Various technologies are available now to measure levels of molecules produced by genes, such as proteins, peptides, and lipids. Our group is studying how measurements of such ‘down-stream gene products' relates to both genes and the disease of interest, and how they can be incorporated in large-scale epidemiological studies.
Newt
Pinfox