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Professor Robyn Jamieson MBBS (Hons I) 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 the Eye Genetics Clinic at The Children’s Hospital at Westmead. She is also Head of the Western Sydney Genetics Program, The Children’s Hospital at Westmead, and Head, Speciality of Genomic Medicine, University of Sydney.

Professor Jamieson 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 a RACP Travelling Fellowship to undertake postdoctoral research in genomics and disease gene analysis at the University of Manchester, UK.

Professor Jamieson returned to Sydney to establish a research program dedicated to understanding molecular mechanisms contributing to developmental eye disorders and genetic retinal diseases. Her research has successfully translated to the availability of clinical genomic diagnostics in these conditions. Research studies also focussed on novel disease gene identification and understanding of disease mechanisms, to lead on to novel therapies to prevent vision loss. Her research unit 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, Cure Blindness Australia, the Rosemary Raymer Scholarship for Eye Genetics Research, and the National Health and Medical Research Council of Australia.

Professor Jamieson delivered the prestigious Sutherland Lecture recognising mid-career research excellence at the 2018 Human Genetics Society of Australasia meeting. She was an invited speaker at the European Vision and Eye Research (EVER) Conference, Nice, 2019, and the World Ophthalmology Congress, Barcelona, 2018. She was symposium coordinator and speaker at the Asian Pacific Academy of Ophthalmology 2018 and 2019.

Current Research

Professor Jamieson’s current research is particularly focused on understanding molecular mechanisms contributing to genetic retinal diseases, and use of this information to develop therapies for vision rescue in these conditions. Human induced pluripotent stem cells differentiated to retinal organoids and retinal pigment epithelium, as well as animal models, are used for investigation of genetic variants and testing of novel genetic therapies. A collaborative network is established with ophthalmologists and clinical geneticists from around Australia and internationally. The aim of Professor Jamieson’s research is to develop detailed understanding of the role of retinal disease genes causing blindness, and to use genome engineering, cellular and vector technologies for novel treatments for these conditions.

Major Achievements


Unique Australian eye disease family found to have a novel mutation in TUBB2B. The eye and brain phenotype in this family pinpointed the divergent roles of ß-tubulin subtypes in microtubule dynamics and axon guidance. Article.


Whole exome sequencing successful for disease gene identification in developmental eye disease. These eye disorders are markedly genetically heterogeneous, and our study demonstrated the value of whole exome sequencing for genetic diagnosis in these conditions. Article.


Australian families with balanced structural variants lead to novel candidate disease gene identification in cerebral and other disorders. A mate paired whole genome sequencing strategy was undertaken with our Genome Institute of Singapore collaborators, and novel candidate disease genes identified that may contribute to schizencephaly and developmental delay. (Article: Utami KH, Hillmer AM, Aksoy I, Chew EGY, Teo ASM, Zhang Z, Lee CWH, Chen PJ, Chan CS, Ariyaratne PN, Rouam SL, Soo LS, Yousoof S, Prokudin I, Peters G, Collins F, Wilson M, Kakakios A, Haddad G, Menuet A, Perche O, Hong ST, Sung KW, Ruan X, Ruan Y, Liu ET, Briault S, Jamieson RV, Davila S, Cacheux V. Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. PLoS One. 2014 Mar 6;9(3):e90852. PMID: 24603971)


SIPA1L3 novel disease gene identification and characterisation. Human, zebrafish and mouse studies showed that SIPA1L3 has a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organisation. [hyperlink to article: Greenlees R*, Mihelec M*, Yousoof S*, Speidel D, Wu SK, Rinkwitz S, Prokudin I, Perveen R, Cheng A, Ma A, Nash B, Gillespie R, Loebel DA, Clayton-Smith J, Lloyd IC, Grigg JR, Tam PP, Yap AS, Becker TS, Black GC, Semina E, Jamieson RV. Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. (*Equal first authors) Human Molecular Genetics, 2015; 24(20): 5789-5804. PMID: 26231217]


Australian-first of translation of our research genomic testing for genetic eye diseases to clinical diagnostic testing, through our collaboration with the Sydney Genome Diagnostics Laboratory within the Western Sydney Genetics Program at The Children’s Hospital at Westmead. As we head to the new era of genetic therapies for some of these conditions, attainment of genetic diagnoses for patients is critical. For most of the new clinical trials or therapies, patients are required to have a genetic diagnosis to be eligible for the therapy [link to example articles:

Ma AS, Grigg JR, Ho G, Prokudin I , Farnsworth E, Holman K, Cheng A, Billson FA, Martin F, Fraser C, Mowat D, Smith J, Christodoulou J, Flaherty M, Bennetts B, Jamieson RV. Sporadic and familial congenital cataracts: mutational spectrum and new diagnoses using next-generation sequencing. Human Mutation, 2016 Apr;37(4):371-84. PMID: 26694549;

Nash BM, Symes R, Goel H, Dinger ME, Bennetts B, Grigg JR, Jamieson RV. NMNAT1 variants cause cone and cone-rod dystrophy. European Journal of Human Genetics, 2018, Mar;26(3):428-433. Epub 2017 Nov 28. PMID: 29184169]


ALPK1 novel retinal disease gene identification and characterisation. The first to report a newly defined retinal dystrophy syndrome and its causative disease gene ALPK1, opening up a new disease mechanism pathway. [link to article: Williams LB#, Javed A#, Sabri A#, Morgan DJ#, Huff CD, Grigg JR, Ting Heng X, Khng A, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Sen HN, Zein WM, Rodgers G, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies M, von Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre K, Jamieson RV##, DeAngelis MM##ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. # Equal First Authors; ##Equal Last Authors, Genetics in Medicine, 2019, Sep;21(9):2103-2115. Epub 2019 Apr 10. PMID: 30967659


A multidisciplinary team (MDT) approach encompassing phenotypic, genomic, variant, and segregation analysis to maximise the genomic diagnostic rate. [Ma AS, Yousoof S, Grigg JR, Flaherty M, Minoche AE, Cowley M, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Fisk K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Karaconji T, Elder JE, Enriquez A, Wilson M, Amor D, Stutterd CA, Kamien B, Nelson J, Dinger ME, Bennetts B, Jamieson RV. Revealing hidden genetic diagnoses in the ocular anterior segment disorders. Genetics in Medicine, 2020, Jun 5. PMID: 32499604.

Robyn Jamieson

Head, Eye Genetics Unit
Available for Student Supervision