Rate My Professor Robyn Jamieson

Jamieson serves as Head of the Specialty of Genomic Medicine at the University of Sydney, Head of the Eye Genetics Research Unit at the Children’s Medical Research Institute, Head of the Western Sydney Genetics Program and the Eye Genetics Clinic at The Children’s Hospital at Westmead, and Group Lead and Ophthalmic Geneticist at the Save Sight Institute. Her research centers on genetic retinal diseases and inherited retinal diseases, such as retinitis pigmentosa, Stargardt disease, cone-rod dystrophies, and macular dystrophies. Her team utilizes human induced pluripotent stem cells differentiated to retinal organoids and retinal pigment epithelium, animal models, whole genome sequencing, and genome engineering technologies including CRISPR to investigate genetic variants and develop vision rescue therapies. Key discoveries include identification of ALPK1 as the causative gene in ROSAH syndrome (Genetics in Medicine, 2019), mutations in SIPA1L3 causing lens and anterior segment defects (Human Molecular Genetics, 2015), a founder variant in WNT7B expanding PDAC syndrome phenotype (Clinical Genetics, 2024), and novel candidate genes in inherited retinal diseases (International Journal of Molecular Sciences, 2022). She led the first Australian administrations of Luxturna gene therapy for RPE65-associated Leber congenital amaurosis in 2020 and 2021, restoring vision in patients. With 4,909 citations and an h-index of 36 on Google Scholar, her contributions have advanced genomic medicine in ophthalmology through NHMRC-funded projects and collaborations like the $35 million BIENCO consortium.