Identification and function of genes that increase risk for endometriosis


Project Details

Endometriosis is a common, oestrogen-dependent condition associated with menstrual pain, chronic pelvic pain and infertility. It is thought to affect 7% of women of reproductive age in Australia, increasing to 35-50% of women with chronic pelvic pain and fertility problems. Medical treatment options have limited effectiveness, and surgical intervention may not prevent later recurrence. The personal and healthcare costs associated with endometriosis are high. In an Australian report, direct medical and surgical costs for endometriosis were estimated at $6 billion per annum for adult women (based on 1 in 10 adult women having endometriosis, $10,000 per woman). For adolescent girls, direct costs were estimated at $600 million.

Endometriosis is a complex disease influenced by multiple genetic and environmental factors and the causes of the condition are largely unknown. The disorder is common among female relatives with evidence indicating that the disease can be inherited. Large-scale genetic studies have been performed in Australia and Japan, and there is now information available which identifies several genetic regions in the human genome that increase a woman’s risk of developing endometriosis.  Using uterine tissues collected at the RWH, we are in the process of intensively investigating these genetic regions to confirm a link with endometriosis.  This collaborative project brings together world class research capabilities in genetics, genome wide association studies (GWAS), genomics, endometrial biology, and clinical treatment of endometriosis. We hope that our research will lead to improved understanding of endometriosis and the identification of novel targets that may improve diagnosis and treatment and lead to precision medicine options for women with endometriosis.



  • Prof Grant Montgomery, University of Queensland
  • Assoc Prof Martin Healey, Royal Women's Hospital
  • Dr Uri Dior, Royal Women's Hospital
  • Dr Andrew Webb, WEHI


NHMRC Project Grant: (Rogers, Montgomery, Girling) Identification and function of genes that increase risk for endometriosis.

JN Peters Bequest Fellowship, University of Melbourne, Dr Sarah Holdsworth-Carson

Research Opportunities

This research project is available to PhD students to join as part of their thesis.
Please contact the Research Group Leader to discuss your options.

Research Publications

Endometrial vezatin and its association with endometriosis risk.

Holdsworth-Carson SJ, Fung JN, Luong HT, Sapkota Y, Bowdler LM, Wallace L, Teh WT, Powell JE, Girling JE, Healey M, Montgomery GW, Rogers PA.

Hum Reprod. 2016 Mar 22. pii: dew047. [Epub ahead of print]

Functional evaluation of genetic variants associated with endometriosis near GREB1.

Fung JN, Holdsworth-Carson SJ, Sapkota Y, Zhao ZZ, Jones L, Girling JE, Paiva P, Healey M, Nyholt DR, Rogers PA, Montgomery GW.

Hum Reprod. 2015 May;30(5):1263-75.

Identifying the biological basis of GWAS hits for endometriosis.

Fung JN, Rogers PA, Montgomery GW.

Biol Reprod. 2015 Apr;92(4):87.

Research Group

Gynaecology Research Centre

Faculty Research Themes

Infection and Immunology

School Research Themes

Women's Health

Key Contact

For further information about this research, please contact the research group leader.

Department / Centre

Obstetrics and Gynaecology

Unit / Centre

Gynaecology Research Centre

MDHS Research library
Explore by researcher, school, project or topic.