Finding cures for children's genetic diseases

About Us

Robyn Jamieson Head, Eye Genetics Unit

Professor Robyn Jamieson MBBS (Hons) PhD FRACP (Paeds) Clinical Geneticist (HGSA), Eye Genetics Research Unit Head, Professor of Genomic Medicine, University of Sydney — leads the Eye Genetics Research Unit at CMRI, and heads Eye Genetics Clinics at The Children’s Hospital at Westmead and Westmead Adult Hospital. She is also Director of the Western Sydney Genetics Program, The Children’s Hospital at Westmead, and Head, Discipline of Genetic Medicine, University of Sydney.
Robyn obtained her medical degree from the University of Queensland, trained in paediatrics and clinical genetics in Sydney, and is a Fellow of the Royal Australasian College of Physicians (Paediatrics) with certification in Clinical Genetics. She completed a PhD in developmental biology at the Children’s Medical Research Institute, and received an NHMRC Neil Hamilton Fairley Fellowship and an RACP Travelling Fellowship to undertake postdoctoral research in genomics and disease gene analysis at the University of Manchester, UK.  
She returned to Sydney to establish a research group in genetic and developmental disease, focusing on blinding conditions of the eye. Her research has translated into direct benefits to families through improved genetic information and tailored treatment options. Her research group has affiliations with The Children’s Hospital at Westmead and the Save Sight Institute, University of Sydney, with support from the Ophthalmic Research Institute of Australia, Retina Australia, the Rosemary Raymer Scholarship for Eye Genetics Research, and the National Health and Medical Research Council of Australia.
Professor Jamieson was an invited symposium speaker at the International Society for Eye Research in Japan in 2016, and is an invited speaker at the Association for Research in Vision and Ophthalmology Conference, US, in 2017.
Professor Jamieson’s research is focused on understanding molecular controls of eye development, and differentiation and maintenance of visual processes. High resolution genomic approaches, including exome and whole genome sequencing, are taken to identify novel variants and disease genes from human patients, so that the most relevant causative disease factors are studied. A collaborative network is established with ophthalmologists and clinical geneticists from around Australia and internationally. Detailed analyses to understand the disease mechanisms are undertaken using cellular and murine model systems. The aim of Professor Jamieson’s research is to develop detailed understanding of the role of disease genes causing blindness, and to use genome engineering, cellular and vector technologies for novel treatments for these conditions.