News · May 29, 2025

David Healy Award 2025 presented to Lindsay Guare

The David Healy Award for best Oral Presentation by an Early Career Scientist was presented to Lindsay Guare at the closing ceremony of the 16th World Congress on Endometriosis for her work on Expanding the Genetic Landscape of Endometriosis: Integrating Multi-omics with a Genome-wide Meta-analysis of Over 900,000 Genetically Diverse Women

L Guare1, J Das1, A Rajagopalan1, L Caruth1, S Namba2, Y Okada2, Y Shirai3, Y Yamamoto3, A Akerele4, J Jaworski4, D Velez-Edwards4, A Hill5, J Shortt5, N Elhadad6, G Jarvik7, L Kottyan8, Y Luo9, W Wei10, C Weng6, S Chapman11, Y Shi11, W Zhou11, A Mulford12, A Sanders12, B Brumpton13, E Moreno13, T Chen15, V Rovite14, Y Lin15,S Setia- Verma1

1University Of Pennsylvania, Philadelphia, United States
2The University of Tokyo, Japan
3Osaka University, Suita, Japan
4Vanderbilt University Medical Center, Nashville, United States
5Colorado Center for Precision Medicine, Aurora, United States
6Columbia University, New York City, United States
7University of Washington, Seattle, United States
8Cincinnati Children’s Hospital Medical Center, Cincinnati, United States
9Northwestern University, Evanston, United States
10Vanderbilt University, Nashville, United States
11The Broad Institute, Cambridge, United States
12Endeavor Health, Evanston, United States
13Norwegian University of Science and Technology, Trondheim, Norway
14Latvian Biomedical Research and Study Centre, Latvia
15National Health Research Institutes, Maoli County, Taiwan

Country: United States of America Introduction/Background

Endometriosis is a complex heritable disorder requiring comprehensive genomic investigation

across diverse populations. Previous studies have been somewhat limited by European-centric data. The Global Biobank Meta-Analysis Initiative (GBMI) enables large-scale genomic analysis across multiple genetic ancestry groups, complemented by computational multi-omic and single cell analyses to understand disease mechanisms.

Materials and Methods

We performed a Genome-Wide Association Study (GWAS) meta-analysis across 14 biobanks worldwide, with 31% non-European samples. Multiple endometriosis phenotype definitions were analyzed, including broad and surgically-confirmed cases. Post-GWAS analyses included ancestry-stratified heritability estimation and fine-mapping. We conducted Transcriptome- wide and Proteome-wide association analyses, followed by single-cell analyses of implicated genes. Integration of multi-omic data through Mergeomics analysis enabled comprehensive pathway enrichment assessment.

Results

The GWAS (N=928,413 : 44,125 cases) identified 45 significant loci using a broad phenotype definition, including seven previously-unreported signals and the first genome-wide significant locus (POLR2M) in African ancestry. Narrow phenotypes and surgically confirmed cases replicated known loci near CDC42 and SYNE1. Observed heritability was consistent (10-12%) across ancestral groups. Cross-ancestry fine-mapping revealed putative causal variants in 38 loci. Multi-omic imputed association analyses identified 11 significantly-associated gene transcripts (two previously unknown: DTD1 and CCDC88B), two intronic splicing events (within PGR and NSRP1), and one protein, RSPO3. In silico single-cell analyses prioritized 18 disease-relevant cell types including venous cells and macrophages. The results of these analyses specified key players in enriched molecular pathways involving immunopathogenesis, angiogenesis, Wnt signaling, and balance between proliferation, differentiation, and migration of endometrial cells as major hallmarks in genomics of endometriosis.

Conclusion

This diverse GWAS combined with transcriptomic, splice-omic, proteomic, and single-cell analyses revealed novel genetic associations and molecular mechanisms in endometriosis. The identification of ancestry-specific variants and pathway interactions provides multiple targets for developing precise therapeutic interventions across diverse populations.

Key words: Genome wide association analyses, multi-omic data integration, diverse populations

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News ·

Rodolphe Maheux Award 2025 presented to Amelia Mardon

The 2025 Rodolphe Maheux Award for best Oral Presentation by an Early Career Clinician was awarded to Amelia Mardon at the closing ceremony of the 16th World Congress on Endometriosis for her presentation on Pain Science Education Concepts for Pelvic Pain: An e-Delphi of Expert Clinicians

A Mardon1,2, H Leake1, M Wilson2,3, E Karran2, R Parker4, R Malani5, L Moseley2, J Chalmers2

1NICM Health Research Institute, Western Sydney University, Westmead, Australia
2IIMPACT in Health, UniSA, Adelaide, Australia
3Persistent Pain Research Group, UniSA, Adelaide, Australia
4Department of Anaesthesia and Perioperative Medicine, University of Cape Town, Cape Town, South Africa
5MGM School of Physiotherapy, Aurangabad, A constituent unit of MGMIHS, Maharashtra, India

Country: Australia

Introduction/Background

Pain science education (PSE) involves learning about the biology of pain. However, PSE is yet to be thoroughly investigated for persistent pelvic pain potentially due to the lack of targeted curricula. This study gained consensus on PSE learning concepts important for persistent pelvic pain according to expert clinicians.

Materials and Methods

A three-round e-Delphi survey was conducted to generate and gain consensus on important PSE learning concepts for female persistent pelvic pain among 20 international, multidisciplinary expert clinicians. Learning concepts generated by clinicians were rated by importance using a six-point Likert scale. Concepts were considered important if they had a median rating important >3.0. Consensus on importance rating was considered reached for items with an interquartile range <1.0.

Results

The panel included expert clinicians from seven countries and six healthcare professions. Most clinicians (40%) had 20+ years of experience in pelvic pain. Overall, the expert clinicians generated 125 PSE learning concepts that were considered important for persistent pelvic pain; 92 (73.6%) learning concepts reached consensus on their importance rating. Of the 125 learning concepts, 102 were generated for persistent pelvic pain in general, and were categorised into 13 overarching PSE concepts (e.g., persistent pelvic pain involves changes to the brain and nervous system; many factors influence persistent pelvic pain). Sixteen concepts were generated for specific pelvic pain conditions (e.g., endometriosis) and seven concepts for specific life stages (e.g., adolescence).

Conclusion

This study provides the first list of key PSE concepts for persistent pelvic pain developed by expert clinicians. These concepts share similarities to those valued by consumers.1 Taken together, they provide a framework for developing and implementing PSE curricula for persistent pelvic pain in research and clinical settings.

Key words

Pain science education, pelvic pain, patient education

References

  1. Mardon AK, Chalmers KJ, Heathcote LC, Curtis LA, Freedman L, Malani R, Parker R, Neumann PB, Moseley GL, Leake HB. “I wish I knew then what I know now”—pain science education concepts important for female persistent pelvic pain: a reflexive thematic analysis. Pain. 2024 Sep 1;165(9):1990-2001.

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News · July 29, 2024

Reproductive BioMedicine Online (RBMO) Partnership

Reproductive BioMedicine Online (RBMO) is delighted to welcome the World Endometriosis Society (WES) as a new Affiliated Society of the journal.

The World Endometriosis Society is a global organisation with a mission to advance evidence-based standards and innovations for education, advocacy, clinical care, and research in endometriosis, adenomyosis, and related disorders.

RBMO is proud to collaborate with WES, to provide an international platform for the research, innovative thought and activities of its members, in pursuit of a shared goal to further the management, classification, diagnosis, and ultimately the prevention of endometriosis.

RBMO Co-Chief Editor Prof. Juan García-Velasco says of the new partnership “We at RBMO are very enthusiastic about the potential to work together with WES and their members. The impact of endometriosis and adenomyosis on reproduction, general health, and wellbeing across women’s lives are still a matter of investigation, with best clinical approaches advancing and evolving. RBMO will provide a strong platform for these papers to be published and discussed among colleagues working with the same focus.”

WES President, Prof. Stacey Missmer comments “WES leadership and our members are excited to partner with RBMO to continue our mission of encouraging novel and impactful discoveries and disseminating their findings to raise knowledge, awareness, and attention for maximum benefit to all who are impacted by endometriosis or adenomyosis.”

RBMO Co-Chief Editor Prof. Nick Macklon says: “We very much look forward to establishing our relationship with WES and working together to highlight the Societies’ reproductive health initiatives and publications.”

Together with journal publisher Elsevier, Reproductive BioMedicine Online and the World Endometriosis Society look forward to expanding the opportunities to support Society members and authors in improving the quality of life of endometriosis patients.

Juan García-Velasco and Nick Macklon
RBMO Chief Editors
https://linktr.ee/rbmo

Stacey Missmer
WES President
https://endometriosis.ca 

 

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News · January 28, 2024

In Memoriam: Robert N. Taylor MD, PhD

 

The WES Senior and Early Career Boards and Members across the globe offer our condolences and celebrate the exceptional life of Robert N. Taylor. Professor and Dean, Dr. Taylor served WES as a Senior Board member from 2005-2017, holding the Executive Board office of Secretary from 2011-2017, after which he has continued to serve as a WES Senior Ambassador.

A revered clinician and scientist, he led much of the foundational discoveries in cytokine activity and angiogenic underpinnings of endometriosis. Most of us, however, will be forever in his debt for his intense focus on mentoring – marked by his warm welcoming, insightful criticism, thoughtful encouragement, and firm collaboration. Our thoughts are with his wife, Dr. Sarah Berga, and their family at this difficult time.

 

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News · November 30, 2023

David Healy Award 2023 presented to Marcela Haro

The David Healy Award for best Scientific Abstract was presented to Marcela Haro at the closing ceremony of the 15th World Congress on Endometriosis for her work on how Heterogeneous Immune Responses Underlie Subtype-Specific and Patient-Specific Heterogeneity in Endometriosis.

Haro M1,2, Fonseca M1,2, Abbasi F1,2, Goodridge H3,4, Siedhoff M5, Jefferies C6, Truong M5, Wright K5, Anglesio M 7,8, Medeiros F9, Lawrenson K1,2,10,11, Yu P10,2
1Women’s Cancer Research Program at the Samuel Oschin Comprehensive Cancer Center, Cedars-Sinai Medical Center, Los Angeles, United States of America, 2Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center , Los Angeles, United States of America, 3Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, United States of America, 4Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, United States of America, 5Division of Minimally Invasive Gynecologic Surgery, Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, United States of America, 6 Department of Medicine, Division of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, United States of America, 7 Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, Canada, 8British Columbia’s Gynecological Cancer Research (OVCARE) Program, University of British Columbia, Vancouver General Hospital, and BC Cancer, Vancouver, Canada, 9Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, United States of America, 10Cancer Prevention and Control Program, Samuel Oschin Comprehensive Cancer Center, Cedars-Sinai Medical Center, Los Angeles, United States of America, 11Center for Bioinformatics and Functional
Genomics, Cedars-Sinai Medical Center, Los Angeles, United States of America

Introduction:
Endometriosis is characterized by endometrial-type glands and stroma growing outside of the uterine cavity, evading the typical cell-intrinsic and cell-extrinsic safeguards (including immune surveillance) that should prevent cells from surviving at ectopic locations. Chronic inflammation and dysregulation in the immune response contribute to the pathogenesis of endometriosis, however, little is understood regarding how immune dysregulation contributes to the extensive heterogeneity that characterizes endometriosis.

Aim:
This research seeks to phenotype the immune repertoire in endometriosis and explore the dysregulation in the molecular signals in the tissue microenvironment that influences immune cell recruitment and function.

Materials and Methods:
Single cell RNA sequencing was applied to >370,000 cells from endometriosis, eutopic endometrium, unaffected ovary and endometriosis-free peritoneum. All specimens were subjected to pathology review and genotyping for somatic variants in commonly mutated genes.

Results:
Endometriosis patients could be stratified into ‘immune-hot’ or ‘immune-cold’ subgroups based on the presence of lymphoid aggregates and germinal centers proximal to lesions. B-cells and plasma cells were particularly enriched in endometriosis. Elevated autoreactive antibodies, B-cell survival and recruitments signals and an interferon signature are seen in endometriosis.

Conclusion and impact:
Extensive heterogeneity in immune responses to endometriosis may explain, at least in part, the heterogenous presentations and symptoms associated with disease. Ongoing experiments are exploring the therapeutic potential of the anti-CD20 monoclonal antibody for patients with elevated B-cell dysfunction. This research is providing clinically relevant insights into the role of B-cells in the pathogenesis of endometriosis and potential targets for both diagnosis and therapeutics.

 

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News ·

Rodolphe Maheux Award 2023 presented to Scott MacKenzie

The 2023 Rodolphe Maheux Award for best Clinical Abstract was presented to Scott MacKenzie at the closing ceremony of the 15th World Congress on Endometriosis for his work on how Genome-wide association reveals a locus in Neuregulin 3 associated with gabapentin efficacy in women with chronic pelvic pain.

MacKenzie S1, Rahmioglu N2,3, Collins F1, Coxon L3, Vincent K3, Zondervan K2,3, Horne A1, Whitaker L1
1MRC Centre for Reproductive Health, University of Edinburgh, Edinburgh, United Kingdom, 2Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom, 3Nuffield Department of Women’s & Reproductive Health, University of Oxford, Oxford, United Kingdom

Introduction:
Chronic pelvic pain (CPP) in women with no obvious pelvic pathology has few evidence-based treatment options. Our recent multicentre randomised controlled trial (GaPP2) in women with CPP showed that gabapentin did not relieve pain and was associated with higher rates of side-effects than placebo. However, the data suggest that subgroups of women could benefit from gabapentin.

Aim:
To identify if common genetic variants are associated with gabapentin response in women with CPP with no obvious pelvic pathology.

Materials and Methods:
We conducted a genome-wide association study of gabapentin response, using participants from GaPP2. Two phenotypes were investigated: gabapentin analgesic response (≥30% reduction in worst and/or average pain), and side-effect burden (≥3 side-effects reported). Standard genetic quality control was conducted followed by imputation to HRC reference panel. Frequentist association analysis was conducted in SNPTEST including autosomes and chromosome X.

Results:
93 participants provided salivary samples for genotyping (82 passed quality control) and 5,522,729 SNPs were tested for association (n=29 ≥30% vs. n=42 <30% reduction in worst and/or average pain scores). One genome-wide significant association with gabapentin analgesic response was identified, rs4442490, an intron variant located in Neuregulin 3 (NRG3) at 10q23.1 (p=2.11×10−8; OR=18.82 (95%CI 4.86–72.83);
MAF=0.42). NRG3 is expressed predominantly in brain tissues and involved in nervous system maintenance/repair. No SNPs reached genome-wide significance for gabapentin side-effect burden.

Conclusion and impact:
A locus in NRG3 is associated with gabapentin efficacy in women with CPP with no obvious pelvic pathology, highlighting the possibility of a precision medicine approach to symptom management.

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News · May 30, 2023

15th World Congress on Endometriosis, 2023

Registration during the opening day of the congress; the excitement was palpable. Over 1100 delegates from over 50 countries attended this brilliant congress, all with a common goal of improving endometriosis care for those living with the condition.

Dr Mathew Leonardi, Assistant Professor in Obstetrics & Gynaecology from McMaster University chaired the incredibly well attended pre-congress meeting in diagnosing and staging endometriosis with ultrasound. His clear message of “Diagnosis is therapy” was present throughout the full conference.

Below, the amazing Alison Deslandes, Specialist Obstetrics and Gynaecological sonographer from the University of Adelaide, scanning our volunteer patient. A live, in-real time ultrasound scan demonstrating the importance of diagnosis of endometriosis to allow those living with the condition feel more empowered about their care.

The art exhibition offered a very thought-provoking visual representation of endometriosis, the condition affecting 1 in 10 women and those assigned female at birth (of reproductive age).

EXPPECT PhD student Katherine Edgley presenting her 2 posters at the congress. One on high adherence to using smartwatches in combination with daily self-reports in patients with endometriosis.

The other, on managing pain and fatigue in endometriosis by exploring the role of physical activity, sleep and diurnal rhythms through smartwatch data.

World Congress on Endometriosis provided a fantastic networking opportunity for the clinicians of the future. Below we see 5th year University of Edinburgh medical student Kevin Kuan who has an interest in endometriosis care and was able to have the opportunity to present 2 posters, outlining his research into improving outcomes for those living with endometriosis.

World congress was a mammoth team effort including volunteers from all backgrounds who wanted to help at such a pivotal event for those suffering from endometriosis and clinicians wishing to improve endometriosis-related care. Below we have Ann Doust, Research Portfolio Manager to Professor Andrew Horne; the excitement did not dwindle as the week progressed.

Professors Philippa Saunders, Andrew Horne and Luk Rombauts giving a true Scottish welcome to delegates attending the conference.

A group of dedicated endometriosis specialists took on the huge challenge of cycling from Endometriosis UKs headquarters in London all the way to Edinburgh to attend the World Congress on Endometriosis, raising an incredible £10,835 in the process.

Professor John Cryan from University College Cork gave an amazing keynote on the gut brain axis. “An evidence base for the role of the gut microbiome in endometriosis is poised to change the way we understand & treat it. Unlike the genome, the microbiome is modifiable”.

The audience was captivated during one of the many talks given in the main auditorium.

Specialist Research Nurse Priscilla Fernandez from University of Edinburgh presented on the important topic of the Nurse Specialist role in research highlighting the importance of multidisciplinary team working and how it benefits patients seeking new treatment options.

Dr Lucy Whitaker Clinical Lecturer in Obstetrics & Gynaecology from University of Edinburgh presented on an exploratory open label study (EPiC1) of Dichloroacetate (DCA) to treat endometriosis associated pain. EPiC2 to start recruitment during the autumn of 2023.

The main auditorium, full of delegates from different disciplines, with one common objective of helping those with endometriosis.

Stacey Missmer, Professor in the Department of Obstetrics, Gynaecology and Reproductive Biology from Michigan State University during the closing ceremony, thanking Early Career World Endometriosis Society Board.

Professors, Andrew Horne, Luk Rombauts and Philippa Saunders ready to take to the dancefloor during the World Congress celebration dinner at the National Museum of Scotland

Great food, drink and company at the celebration dinner. Relationships were forged and memories made at this fantastic event.

Aerialists delighted delegates with their spectacular vertigo inducing routine.

And 5,6,7,8. The “Virginia Reel” ceilidh dance well under way. Ceilidh time at the museum.

Our very own Dr Scott Mackenzie, winner of the Rodolphe Maheux award for best abstract from an Early Career Clinician identifying a SNP associated with gabapentin response in chronic pelvic pain. He was accompanied onstage by Emma Cox from Endometriosis UK, Professor Rombauts, Dr Jacques Donnez and Professors Saunders and Horne.

Professor Lorimer Mosely from University of South Australia closed the successful congress with a fascinating keynote focusing on chronic pain, reminiscent of a TED Talk.

WCE2023 Award Winners

Endometriosis UK Prize – Best Abstract Incorporating Public/Patient Engagement
Kate Wahl, University of British Columbia

ENDOCATION: A cluster randomized controlled trial of a menstrual health and endometriosis education program for middle and secondary school students

Oral Presentations

Best oral presentation from an Early Career Clinician
Winner: Dr Connie Rees, Catharina Hospital Eindhoven

Highly Commended:
Dr Frances Bailey, Guy’s and St Thomas’ NHS Foundation Trust
Dr Tatjana Gibbons, University of Oxford

Best oral presentation from an Early Career Scientist
Winner: Anna Melgaard, Aarhus University

Highly Commended:
Dr Harriet Fitzgerald, Hudson Institute of Medical Research
Dr Fiona Cousins, Hudson Institute of Medical Research

Poster Presentations

Best poster presentation from an Early Career Clinician
Winner: Mohammed Elsherbini, University of Tokyo

Highly Commended:
Giorgia Elisabeth Columbo, University of Aberdeen
Melissa Herbst-Kralovetz, University of Arizona

Best poster presentation from an Early Career Scientist:
Winner: Ellen Kan, MIT

Highly Commended:
Lydia Coxon, University of Oxford
Axelle Brulport, INSERM
Anna Senior, University of Warwick

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News · May 16, 2023

Reframing Endometriosis: Power, Politics and Potential Futures


British Academy/Wellcome Trust Conferences bring together scholars and specialists from around the world to explore themes related to health and wellbeing.

Endometriosis is a common yet poorly understood condition. Media and academic discourse often highlight failures in diagnosis as emblematic of gender biases in health. This conference focuses on practices of exclusion in past and present approaches to endometriosis as well as potential inclusive futures.

It is the first academic conference to bring together UK and internationally based endometriosis social science and humanities researchers alongside, and in conversation with, prominent (bio)medical researchers, third sector representatives and independent researchers and authors.

The way endometriosis is categorised is central to how it is understood and experienced. Speakers will discuss the historical legacies of endometriosis as a ‘wandering womb’ induced ‘hysteria’ and ‘career women’s disease’. They will consider intersecting systems of power and the marginalisation of gendered, racialised, and disabled bodies. And they will explore the socio-cultural-political implications of the latest medical research suggesting endometriosis is a systemic (whole body), rather than a solely gynaecological, disease.

For Registration and more information, see the conference website: Reframing Endometriosis: Power, Politics and Potential Futures | The British Academy

Reframing Endometriosis: Power, Politics and Futures Programme available here

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