Dr Emmanuelle Souzeau

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.