Personal profile
Research Biography
Dr Emmanuelle Souzeau is a research fellow and a genetic counsellor. She has worked as a genetic counsellor in both clinical and research settings. She completed a Masters in Genetic Counselling at the University of Montreal in Canada in 2006 and a PhD by Prior Published Work at Flinders University in 2017 on genetic testing for glaucoma and the implications for genetic counselling.
Emmanuelle developed and leads the genetic testing program of the Australian and New Zealand Registry of Advanced Glaucoma, based at Flinders University, since 2008. Over the past 15 years, she has designed and directed research projects delineating the phenotypes of glaucoma-associated genes, the interpretation of genetic results and the ethical and psychosocial implications of genetic testing for glaucoma. She provides counselling and feedback of results from accredited genetic testing to research participants, and has contributed to the development of educational material for individuals with glaucoma and their at-risk family members. Emmanuelle has strong research interests in the psychological implications of genetic testing and the best strategies for communicating genetic results to patients.
Emmanuelle has been a member of the international ClinGen Ocular Clinical Domain Working Group since 2019, which defines the clinical relevance of genes and variants for eye diseases. In 2019, she established the ClinGen Glaucoma Variant Curation Expert Panel, which she co-chairs, and which led to the development of variant interpretation rules for the MYOC gene. Since 2020, she has co-chaired the ClinGen Glaucoma Gene Curation Expert Panel, whose goal is to revise the clinical validity of gene associations with glaucoma.
Research Interests
Genetic testing and counselling
Inherited eye diseases
Translation research
Supervised Students Successes
Ayub Qassim
- VC Award for Doctoral Thesis Excellence, Flinders University (2022)
Lachlan Knight
- Emmie Russell Prize, Orthoptics Australia conference (2022)
- Kath Holmes Runner-up Scholarship prize, ANZGS Congress (2022)
Georgie Hollitt
- Clinician Special Purpose Fund PhD scholarship, Flinders Medical Centre (2021)
- Kath Holmes Scholarship prize, ANZGS Congress (2022)
- NHMRC Postgraduate Scholarship (2022)
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Best Short Talk from HDR student, Emerging Leaders Showcase, Flinders University (2022)
- Kath Holmes Scholarship prize, ANZGS Congress (2024, 2025)
- FullBright Scholarship (2024)
Victoria Tang
- Clinician Special Purpose Fund PhD scholarship, Flinders Medical Centre (2025)
Completed Supervisions
- Glaucoma Genetics (3)
Education/Academic qualification
PhD, Genetic testing for glaucoma: lessons learned from translational genetic research and implications for genetic counselling, Flinders University
Award Date: 19 Dec 2017
Master, Masters of Science in Genetic Counselling, Université de Montréal
Award Date: 3 Aug 2006
Master, Combined effects of genes, sex and environment on cardiomyocyte structure and function in adult rats , Université de Montréal
Award Date: 3 Feb 2005
Supervision
- Registered
Supervisory Interests
- Genetics
- Glaucoma genetics
- Disease associated genetic variants
- Genetics of eye diseases
- Ethics and genetics, predictive/susceptibility genetic testing
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being -
SDG 4 Quality Education
Fingerprint
- 1 Similar Profiles
Collaborations and top research areas from the last five years
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A Multitrait Polygenic Risk Score for Open-Angle Glaucoma Stratifies Risk of Pigmentary Glaucoma in Pigment Dispersion Syndrome
Kolovos, A., Qassim, A., Marshall, H. N., Nguyen, T. T., Schmidt, J., Hassall, M. M., Tang, V., Maxwell, G., Landers, J., Mills, R., Lake, S., Graham, S. L., Schulz, A., Galanopoulos, A., Casson, R. J., Goldberg, I., Coote, M., Best, S., Lusthaus, J. & Healey, P. R. & 12 others, , Mar 2026, In: Ophthalmology Glaucoma. 9, 2, p. 193-201 9 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Citation (Scopus) -
Association ofFOXC1 Duplications With Juvenile Open-Angle Glaucoma
Maxwell, G. E., Schmidt, J. M., Kolovos, A., Nguyen, T. T., Zamora-Alejo, K., Ruddle, J. B., Craig, M. A., Walland, M., Brooks, A. M. V., Bernatowicz, K., Guevarra, C. B., Castor, F. R., Collantes, E. R., Sibulo, M. C., Siggs, O. M., Wiggs, J. L., Craig, J. E. & Souzeau, E., 7 May 2026, (E-pub ahead of print) In: JAMA Ophthalmology. 10 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld–Rieger syndrome
Mitchell, L. A., Schmidt, J., Souzeau, E., Knight, L. S. W., Maxwell, G., Dubowsky, A., Lim, R., Formaini, E., Welland, M., Simons, C., MacArthur, D. G., Wiggs, J. L., Craig, J. E. & Siggs, O. M., 26 Mar 2026, (E-pub ahead of print) In: European Journal of Human Genetics. p. 1-5 5 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Citation (Scopus) -
Uptake of Polygenic Risk Testing for Glaucoma in Unaffected Individuals
Hollitt, G. L., Cohen-Woods, S., Siggs, O. M., Craig, J. E. & Souzeau, E., Jan 2026, In: Translational Vision Science & Technology. 15, 1, p. 36 9 p., 36.Research output: Contribution to journal › Article › peer-review
Open AccessFile2 Downloads (Pure) -
A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation
Kolovos, A., Qassim, A., Hassall, M. K., Marshall, H. N., Schmidt, J., Nguyen, T. T., He, W., Mullany, S., Hollitt, G. L., Berry, E. C., Tang, V., Zhou, T., Lake, S., Mills, R., Landers, J., Casson, R. J., Galanopoulous, A., Graham, S. L., Schulz, A. & Healey, P. R. & 13 others, , Aug 2025, In: Ophthalmology. 132, 8, p. 878-887 10 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile10 Citations (Scopus)16 Downloads (Pure)
Projects
- 2 Active
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New Targeted Glaucoma Screening Program for High Risk Individuals
Craig, J. (Chief Investigator (Project Lead)), Souzeau, E. (Chief Investigator), McInerney-Leo, A. (Chief Investigator), Hewitt, A. W. (Chief Investigator), Carnt, N. (Chief Investigator), Macgregor, S. (Chief Investigator), Bonevski, B. (Chief Investigator), O'Connell, S. (Chief Investigator), siggs, O. (Chief Investigator), Graham, S. (Chief Investigator), Hoo, R. (Associate Investigator) & Karnon, J. (Associate Investigator)
1/06/26 → 31/05/29
Project: Research
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EYE-GEN (Enhancing Access for Youth with Eye Disease to GENomic Services)
Souzeau, E. (Chief Investigator (Project Lead)), Staffieri, S. (Chief Investigator), Wheelhouse Knight, L. (Chief Investigator), Craig, J. (Chief Investigator), Harvey, G. (Chief Investigator), Mackey, D. A. (Chief Investigator), Cohen-Woods, S. (Chief Investigator), Ruddle, J. (Chief Investigator), Taranath, D. (Chief Investigator) & Barnett, C. (Chief Investigator)
1/06/25 → 31/05/27
Project: Research