Overview
Background
Dr Sally Mortlock is a genetic epidemiologist and NECST Research Fellow who leads the Genetic Epidemiology stream at the Australian Women and Girls Health Research (AWaGHR) Centre, University of Queensland. Her research integrates genomics with life course epidemiology to understand how genetic, environmental, and lifestyle factors shape women’s health across the lifespan.
Her work focuses on reproductive and menstrual health, particularly endometriosis and related conditions, with the aim of improving understanding of disease mechanisms, risk, diagnosis, and personalised approaches to care.
Research areas include:
- Genetic epidemiology and reproductive genomics
- Women’s health across the life course
- Endometriosis and reproductive disorders
- Longitudinal cohort studies and life course epidemiology
- Genetic risk prediction and causal inference methods (including Mendelian randomisation)
- Multi-omics and biological pathway analysis
Dr Mortlock previously spent seven years as lead computational biologist within the Genomics of Reproduction Disorders group at the Institute for Molecular Bioscience, contributing to internationally recognised research in reproductive genomics. She now combines this expertise with large-scale longitudinal health data, including genetic resources within the Australian Longitudinal Study on Women’s Health, to investigate women’s health trajectories over time.
Availability
- Dr Sally Mortlock is:
- Available for supervision
Fields of research
Qualifications
- Doctor of Philosophy, University of Sydney
Research impacts
Dr Morltock’s research aims to improve understanding, diagnosis, and management of endometriosis and women’s reproductive health by translating genomic and epidemiological research into knowledge, clinical, policy, and public health outcomes.
Her work has helped identify genetic risk factors, shared disease pathways, and biological mechanisms underlying endometriosis and related conditions. These discoveries support efforts toward earlier diagnosis, improved disease classification, and development of more personalised approaches to care.
Research contributions include:
- Identifying genetic risk regions and shared mechanisms linking endometriosis with other diseases
- Developing genomic resources (including endometrial eQTL and mQTL datasets) that are now widely used internationally to interpret disease biology and identify therapeutic targets
- Generating evidence from large longitudinal cohorts, including the Australian Longitudinal Study on Women’s Health (ALSWH), to understand how genetic, environmental, and lifestyle factors influence women’s health across the life course
This research has informed national and international policy and guideline development. Findings have contributed evidence cited in the WHO report Endometriosis: disease mechanisms and health disparities (2023), the ACOG Guideline No. 425a, European policy initiatives on women’s reproductive health, and the RANZCOG Australian Living Evidence Guideline for Endometriosis.
Works
Search Professor Sally Mortlock’s works on UQ eSpace
2023
Journal Article
A common genetic factor underlies genetic risk for gynaecological and reproductive disorders and is correlated with risk to depression
Kiewa, Jacqueline, Mortlock, Sally, Meltzer-Brody, Samantha, Middeldorp, Christel, Wray, Naomi R. and Byrne, Enda M. (2023). A common genetic factor underlies genetic risk for gynaecological and reproductive disorders and is correlated with risk to depression. Neuroendocrinology, 113 (10), 1059-1075. doi: 10.1159/000533413
2023
Journal Article
Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management
Yang, Fei, Wu, Yeda, Hockey, Richard, International Endometriosis Genetics Consortium, Doust, Jenny, Mishra, Gita D., Montgomery, Grant W. and Mortlock, Sally (2023). Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management. Cell Reports Medicine, 4 (11) 101250, 1-20. doi: 10.1016/j.xcrm.2023.101250
2023
Journal Article
Insights from Mendelian randomization and genetic correlation analyses into the relationship between endometriosis and its comorbidities
McGrath, Isabelle M, Montgomery, Grant W and Mortlock, Sally (2023). Insights from Mendelian randomization and genetic correlation analyses into the relationship between endometriosis and its comorbidities. Human Reproduction Update, 29 (5), 655-674. doi: 10.1093/humupd/dmad009
2023
Journal Article
Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function
Mortlock, Sally, Houshdaran, Sahar, Kosti, Idit, Rahmioglu, Nilufer, Nezhat, Camran, Vitonis, Allison F., Andrews, Shan V., Grosjean, Parker, Paranjpe, Manish, Horne, Andrew W., Jacoby, Alison, Lager, Jeannette, Opoku-Anane, Jessica, Vo, Kim Chi, Manvelyan, Evelina, Sen, Sushmita, Ghukasyan, Zhanna, Collins, Frances, Santamaria, Xavier, Saunders, Philippa, Kober, Kord, McRae, Allan F., Terry, Kathryn L., Vallvé-Juanico, Júlia, Becker, Christian, Rogers, Peter A. W., Irwin, Juan C., Zondervan, Krina, Montgomery, Grant W. ... Giudice, Linda (2023). Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function. Communications Biology, 6 (1) 780, 1-17. doi: 10.1038/s42003-023-05070-z
2023
Journal Article
Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk
McGrath, Isabelle M., Montgomery, Grant W., Mortlock, Sally and International Endometriosis Genetics Consortium (2023). Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk. Human Genetics, 142 (9), 1345-1360. doi: 10.1007/s00439-023-02582-w
2023
Conference Publication
Risk of iron deficiency in women with endometriosis: a population-based prospective cohort study
Gete, Dereje, Doust, Jenny, Mishra, Gita, Montgomery, Grant and Mortlock, Sally (2023). Risk of iron deficiency in women with endometriosis: a population-based prospective cohort study. Nutrition 2023, Boston, MA United States, 22-25 July 2023. Philadelphia, PA United States: Elsevier. doi: 10.1016/j.cdnut.2023.101350
2023
Journal Article
Global analysis of transcription start sites and enhancers in endometrial stromal cells and differences associated with endometriosis
Marla, Sushma, Mortlock, Sally, Yoon, Sohye, Crawford, Joanna, Andersen, Stacey, Mueller, Michael D., McKinnon, Brett, Nguyen, Quan and Montgomery, Grant W. (2023). Global analysis of transcription start sites and enhancers in endometrial stromal cells and differences associated with endometriosis. Cells, 12 (13) 1736, 1-22. doi: 10.3390/cells12131736
2023
Journal Article
Impact of endometriosis on women's health-related quality of life: A national prospective cohort study
Gete, Dereje G., Doust, Jenny, Mortlock, Sally, Montgomery, Grant and Mishra, Gita D. (2023). Impact of endometriosis on women's health-related quality of life: A national prospective cohort study. Maturitas, 174, 1-7. doi: 10.1016/j.maturitas.2023.04.272
2023
Journal Article
New concepts on the etiology of endometriosis
Cousins, Fiona L., McKinnon, Brett D., Mortlock, Sally, Fitzgerald, Harriet C., Zhang, Chenyu, Montgomery, Grant W. and Gargett, Caroline E. (2023). New concepts on the etiology of endometriosis. Journal of Obstetrics and Gynaecology Research, 49 (4), 1090-1105. doi: 10.1111/jog.15549
2023
Journal Article
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions
Rahmioglu, Nilufer, Mortlock, Sally, Ghiasi, Marzieh, Møller, Peter L., Stefansdottir, Lilja, Galarneau, Geneviève, Turman, Constance, Danning, Rebecca, Law, Matthew H., Sapkota, Yadav, Christofidou, Paraskevi, Skarp, Sini, Giri, Ayush, Banasik, Karina, Krassowski, Michal, Lepamets, Maarja, Marciniak, Błażej, Nõukas, Margit, Perro, Danielle, Sliz, Eeva, Sobalska-Kwapis, Marta, Thorleifsson, Gudmar, Topbas-Selcuki, Nura F., Vitonis, Allison, Westergaard, David, Arnadottir, Ragnheidur, Burgdorf, Kristoffer S., Campbell, Archie, Cheuk, Cecilia S. K. ... The 23andMe Research Team (2023). The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Nature Genetics, 55 (3), 423-436. doi: 10.1038/s41588-023-01323-z
2023
Journal Article
An extremes of phenotype approach confirms significant genetic heterogeneity in patients with ulcerative colitis
Mortlock, Sally, Lord, Anton, Montgomery, Grant, Zakrzewski, Martha, Simms, Lisa A, Krishnaprasad, Krupa, Hanigan, Katherine, Doecke, James D, Walsh, Alissa, Lawrance, Ian C, Bampton, Peter A, Andrews, Jane M, Mahy, Gillian, Connor, Susan J, Sparrow, Miles P, Bell, Sally, Florin, Timothy H., Begun, Jakob, Gearry, Richard B and Radford-Smith, Graham L. (2023). An extremes of phenotype approach confirms significant genetic heterogeneity in patients with ulcerative colitis. Journal of Crohn's and Colitis, 17 (2), 277-288. doi: 10.1093/ecco-jcc/jjac121
2023
Conference Publication
Spatial transcriptomic atlas of the endometrium and endometriotic lesions
Atluri, Sharat, McKinnon, Brett D., Tanaka, Keisuke, Mortlock, Sally, Sugarniya, Subramaniam, Amoako, Akwasi and Montgomery, Grant (2023). Spatial transcriptomic atlas of the endometrium and endometriotic lesions. 70th Annual Meeting of the Society for Reproductive Investigation (SRI), Brisbane, QLD, Australia, 21-25 March 2023. Heidelberg, Germany: Springer. doi: 10.1007/s43032-023-01211-1
2023
Conference Publication
Genetic susceptibility to endometriosis and the assessment of its influence on menstrual fluid organoids through single-cell sequencing
Sugarniya, Subramaniam, McKinnon, Brett D., Mortlock, Sally, Filby, Caitlin, Mueller, Michael, Gargett, Caroline and Montgomery, Grant (2023). Genetic susceptibility to endometriosis and the assessment of its influence on menstrual fluid organoids through single-cell sequencing. 70th Annual Meeting of the Society for Reproductive Investigation (SRI), Brisbane, QLD Australia, 21-25 March 2023. Heidelberg, Germany: Springer.
2023
Conference Publication
Genomic Characterisation of Endometriosis Comorbidities Identifies Shared Genetic Risk Factors and Biological Pathways
McGrath, Isabelle M., Montgomery, Grant W. and Mortlock, Sally (2023). Genomic Characterisation of Endometriosis Comorbidities Identifies Shared Genetic Risk Factors and Biological Pathways. 70th Annual Meeting of the Society for Reproductive Investigation (SRI), Brisbane Australia, Mar 21-25, 2023. HEIDELBERG: SPRINGER HEIDELBERG.
2023
Conference Publication
Shared Genetic Factors in the Aetiology of Gastrointestinal Disorders and Endometriosis and Implications for Disease Management
Yang, Fei, Wu, Yeda, Hockey, Richard, Doust, Jenny, Mishra, Gita, Montgomery, Grant and Mortlock, Sally (2023). Shared Genetic Factors in the Aetiology of Gastrointestinal Disorders and Endometriosis and Implications for Disease Management. 70th Annual Meeting of the Society for Reproductive Investigation (SRI), Brisbane, QLD Australia, 21-25 March 2023. Heidelberg, Germany: Springer.
2023
Conference Publication
The influence of hormonal treatments on endometriotic lesions gene expression
Marla, Sushma, Atluri, Sharat, Mortlock, Sally, Tanaka, Keisuke, Subramaniam, Sugarniya, Amoako, Akwasi, Montgomery, Grant and McKinnon, Brett (2023). The influence of hormonal treatments on endometriotic lesions gene expression. 70th Annual Meeting of the Society for Reproductive Investigation (SRI), Brisbane, QLD, Australia, 21-25 March 2023. Heidelberg, Germany: Springer. doi: 10.1007/s43032-023-01211-1
2023
Conference Publication
The influence of genetic susceptibility to endometriosis on endometrial organoid growth and function
McKinnon, Brett D., Subramaniam, Sugarniya, Mortlock, Sally, Tanaka, Keisuke, Atluri, Sharat, Mueller, Michael D., Amoako, Akwasi, Gargett, Caroline and Montgomery, Grant (2023). The influence of genetic susceptibility to endometriosis on endometrial organoid growth and function. 70th Annual Meeting of the Society for Reproductive Investigation (SRI), Brisbane, QLD, Australia, 21-25 March 2023. Heidelberg, Germany: Springer. doi: 10.1007/s43032-023-01211-1
2023
Conference Publication
A Comprehensive Isoform-Level Analysis in Endometrium Revealed Novel Insights and Candidate Genes for Endometriosis and Infertility
Yang, Fei, Mcrae, Allan, Rogers, Peter A. W., Mortlock, Sally and Montgomery, Grant (2023). A Comprehensive Isoform-Level Analysis in Endometrium Revealed Novel Insights and Candidate Genes for Endometriosis and Infertility. 70th Annual Meeting of the Society for Reproductive Investigation (SRI), Brisbane Australia, Mar 21-25, 2023. HEIDELBERG: SPRINGER HEIDELBERG.
2023
Conference Publication
Understanding the pathogenesis of endometriosis by developing a single cell atlas of human endometrial stem/progenitor cells
Fitzgerald, Harriet C., Mortlock, Sally, Filby, Caitlin, Cousins, Fiona, Palawaththa, Shanika, McKinnon, Brett, Marquez-Garcia, Elizabeth, Montgomery, Grant W. and Gargett, Caroline (2023). Understanding the pathogenesis of endometriosis by developing a single cell atlas of human endometrial stem/progenitor cells. 70th Annual Meeting of the Society for Reproductive Investigation (SRI), Brisbane, QLD Australia, 21-25 March 2023. Heidelberg, Germany: Springer.
2022
Journal Article
Protocol for the Endometriosis Research Queensland Study (ERQS): an integrated cohort study approach to improve diagnosis and stratify treatment
Tanaka, Keisuke, Gilroy, Deborah, Subramaniam, Sugarniya, Lakshmi, Preethi, Bhadravathi Lokeshappa, Madhura, Wallace, Leanne M., Atluri, Sharat, Schmidt, Bart, Ganter, Peter, Baartz, David, Smith, Matthew, Mortlock, Sally, Henders, Anjali, Khalil, Akram, Montgomery, Grant, McKinnon, Brett and Amoako, Akwasi (2022). Protocol for the Endometriosis Research Queensland Study (ERQS): an integrated cohort study approach to improve diagnosis and stratify treatment. BMJ Open, 12 (10) e064073, 1-10. doi: 10.1136/bmjopen-2022-064073
Funding
Current funding
Past funding
Supervision
Availability
- Dr Sally Mortlock is:
- Available for supervision
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Available projects
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Understanding Endometriosis Heterogeneity Across the Life Course
Endometriosis is a heterogeneous condition characterised by wide variation in symptoms, comorbidities, lesion types, and treatment response, contributing to delayed diagnosis and poor outcomes. This PhD project will investigate the genetic and life course drivers of this heterogeneity, examining how symptom profiles and comorbidities cluster and vary across women.
Using large-scale datasets including the Australian Longitudinal Study on Women’s Health (ALSWH) and international genomic resources, the project will characterise disease subtypes, assess causal links between endometriosis, symptoms and comorbidities, and explore how genetic risk interacts with life course exposures to shape symptom trajectories. Advanced methods including longitudinal and trajectory modelling and causal inference will be applied.
The project will generate new insights into endometriosis subtypes, underlying mechanisms, and gene–environment interactions, with the goal of improving early diagnosis and informing more personalised, targeted care pathways.
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Understanding Shared Mechanisms Across Reproductive and Menstrual Health
This project will apply genetic epidemiology and life course approaches to investigate the causes, overlap, and shared biological mechanisms underlying reproductive and menstrual disorders across women’s lives. Focusing on conditions including endometriosis, endometritis, infertility, polyendocrine metabolic ovarian syndrome (PMOS), fibroids, heavy menstrual bleeding, and related reproductive traits and milestones (e.g., age at menarche and menopause), the project will examine how co-occurring conditions interact and contribute to women’s health across the life course. Moving beyond a disease-centred approach, the research will adopt a person-centred framework to identify shared pathways and causal links between reproductive disorders, fertility outcomes, gynaecological cancers, and broader chronic disease risk. Using methods including Mendelian randomisation, polygenic risk modelling, and interaction analyses, the project will investigate how genetic susceptibility and life course exposures (e.g., BMI, contraceptive use, reproductive stage) influence disease risk, infertility, and condition overlap. Findings will support earlier identification of risk, targeted interventions, and improved women’s health outcomes.
Supervision history
Current supervision
-
Doctor Philosophy
Exploring the role of epidemiological and molecular factors in endometriosis risk
Principal Advisor
Other advisors: Professor Allan McRae
-
Doctor Philosophy
Leveraging multi-omic and epidemiological data to understand endometriosis and its symptomatology
Associate Advisor
Other advisors: Professor Naomi Wray, Professor Allan McRae
Completed supervision
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2025
Doctor Philosophy
Leveraging Large Genomic and Health Record Datasets to Uncover Novel Insights into the Aetiology of Endometriosis
Principal Advisor
-
2024
Doctor Philosophy
Identifying genetic and epigenetic regulators of skin and hair follicle physiology and disease in mice: A systems-based approach using The Collaborative Cross
Associate Advisor
Other advisors: Professor Kiarash Khosrotehrani
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2023
Doctor Philosophy
Regulation of transcription in human endometrium and endometriosis
Associate Advisor
-
2023
Doctor Philosophy
Investigation of both epidemiological and genetic risk factors for endometriosis: novel insights and important clinical implications
Associate Advisor
Media
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