Dr Emmanuelle Souzeau

Research Fellow

College of Medicine and Public Health

place Flinders Medical Centre Building (2K:056)
GPO Box 2100, Adelaide 5001, South Australia

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.


PhD, Flinders University, 2017

MSc in Genetic Counselling, University of Montreal, 2006

MSc in Physiology, University of Montreal, 2004

Honours, awards and grants

Vice-Chancellor's Award for Mid-Career Researchers, Flinders University, 2023

NHMRC Investigator Grant, 2023-2027

BrightFocus Foundation, National Glaucoma Research grant, 2022-2024

Thomas R. Lee Award for National Glaucoma Research, BrightFocus Foundation, 2022

Hospital Research Foundation, Early-Career Research Fellowship, 2020-2021

Vice-Chancellor's Award for Early Career Researchers, Flinders University, 2020

Flinders Foundation Health Seed Grants, 2019-2020

Best Research Higher Degree Student Publication Award, Flinders University, 2017

Supervisory interests
Disease associated genetic variants
Ethics and genetics, predictive/susceptibility genetic testing
Genetics of eye diseases
Glaucoma genetics
Higher degree by research supervision
Associate supervisor: Glaucoma Genetics (1)
Associate supervisor: Glaucoma Genetics (3)
Higher degree by research student achievements
Lachlan Knight

Kath Holmes Runner-up Scholarship prize, 2022 ANZGS Congress - FEB 2022

Lachlan Knight

Emmie Russell Prize, Orthoptics Australia conference - FEB 2022

Georgie Hollitt

Kath Holmes Scholarship prize, 2022 ANZGS Congress - FEB 2022

Ayub Qassim

VC Award for Doctoral Thesis Excellence, Flinders University - MAR 2022

Georgie Hollitt

Clinician Special Purpose Fund PhD scholarship, Flinders Medical Centre - JAN 2021

Antonia Kolovos

NHMRC Postgraduate Scholarship - JAN 2022

Antonia Kolovos

Best Short Talk from HDR student, Emerging Leaders Showcase, Flinders University - NOV 2023