معرفی
Professor Robyn Jamieson serves as Professor of Genomic Medicine and Head of the Specialty of Genomic Medicine at The University of Sydney's Children's Hospital at Westmead Clinical School. She is a member of The University of Sydney Nano Institute and maintains strong affiliations with the Save Sight Institute and Children's Medical Research Institute. Her clinical specialty is Genetic Medicine with a focus on pediatric ophthalmology and inherited eye disorders.
Professor Jamieson's research program centers on genomic and functional studies aimed at understanding disease causation in genetic eye diseases, particularly those affecting the retina. Her work has resulted in several novel disease gene and variant identifications, new insights into disease mechanisms, and translation to diagnostic genomic testing for genetic eye diseases. She actively pursues applications in genome engineering and new vector technologies for developing therapies for blinding eye conditions. Her research spans themes of Reproductive, Maternal and Child Health; Neurosciences and Mental Health; and Healthy Ageing, employing approaches in Cellular/Molecular biology, Genetics, and Translational Research.
Analysis of Professor Jamieson's recent publications reveals a strong focus on inherited retinal diseases, with significant work on gene identification (GUCY2D, PROM1, KCNV2, WNT7B), natural history studies, biomarker development, and therapeutic approaches. Her research increasingly incorporates advanced technologies including AAV capsid bioengineering, retinal organoids, and genome sequencing for improved diagnosis and treatment pathways. The work spans basic science through to clinical implementation and health economics.
Professor Jamieson actively supervises research students including Nadya ANDHIKA (exploring genetic therapy approaches in inherited retinal dystrophy) and William YATES (working on inherited retinal disease natural history and gene therapies). She has secured substantial grant funding from NHMRC, Department of Health, and other sources for projects including 'Resolving genetic variant uncertainty in syndromic and non-syndromic retinitis pigmentosa,' 'DEVELOPMENT OF PHOTORECEPTOR CELL THERAPY TO TREAT BLINDNESS,' and 'ALPK1 dysfunction: revealing a novel pathogenic pathway in retinal diseases.'
