Newcastle researchers have played a vital role in a major genetic discovery that could help better diagnose and treat one of the most complex diseases affecting female fertility.

Four new gene regions linked to endometriosis were discovered in a recent international study involving 5648 Australian, Japanese and European women sufferers.

The results give a significantly clearer picture of the causes of this gynaecological condition, which affects up to 10 per cent of Australian women and is responsible for about half of all female infertility. The condition can also cause pelvic pain, menstrual disturbance, scarring and tissue damage.

Newcastle researchers Professor Rodney Scott*, Dr Elizabeth Holliday, Professor John Attia and Dr Mark McEvoy assisted the Queensland Institute of Medical Research (QIMR) in the gene study by providing genetic data taken from the University’s Hunter Community Study (HCS).

Researchers found that the genetic loci associated with the condition were largely the same in Europeans and Japanese women, dispelling a concern that different populations experience different subtypes of endometriosis.

These discoveries will help researchers identify the underlying biological mechanisms of endometriosis, which they can ultimately use to develop new diagnostics and treatments.

A follow-up study will identify similar genetic risks with other common health complaints associated with endometriosis.

Read the study in the prestigious journal Nature Genetics.

HMRI is a partnership between the University of Newcastle, Hunter New England Local Heath District and the community.

* Professor Scott is co-leader of HMRI’s Information Based Medicine Program and Director of the University of Newcastle’s Priority Research Centre for Bioinformatics, Biomarker Discovery & Information-Based Medicine.