Dr Emmanuelle Souzeau is a Research Fellow in the Department of Ophthalmology. She has 15 years expertise 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. She moved to Adelaide in 2008 and joined Prof Jamie Craig's research group as a research genetic counsellor. In 2017, she completed a PhD by Prior Published Work at Flinders University 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 10 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 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
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
Kath Holmes Runner-up Scholarship prize, 2022 ANZGS Congress - FEB 2022
Emmie Russell Prize, Orthoptics Australia conference - FEB 2022
Kath Holmes Scholarship prize, 2022 ANZGS Congress - FEB 2022
VC Award for Doctoral Thesis Excellence, Flinders University - MAR 2022
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