Eye Genetics Research Unit

The Eye Genetics Research Unit is committed to improved genomic diagnosis and development of new therapies for blinding genetic eye diseases. Our research is a joint initiative of Sydney Children’s Hospitals Network, Children’s Medical Research Institute and Save Sight Institute, University of Sydney. We use genomic and functional genomic approaches to find genetic answers for patients with blinding eye diseases, including retinitis pigmentosa, congenital cataracts and glaucoma. 

We investigate patient-derived human induced pluripotent stem cells which we differentiate to retinal tissues including retinal organoids and retinal pigment epithelium. These are valuable tissues with which we investigate disease mechanisms and test our new genetic therapies which use AAV-mediated gene replacement or CRISPR/Cas9 gene editing approaches.

Our team is also committed to delivery of novel therapies and clinical trials for genetic eye disease patients.

The research team

> Professor Robyn Jamieson, Head of Eye Genetics Research Unit

Robyn is a Consultant in Clinical Genetics and her combination of genomic and functional genomics expertise in genetic eye diseases, has led to the identification of several novel disease genes, loci and variants. Her research team is now focussed on strategies for stem cell-based and genome engineering approaches for functional genomics and new genetic therapies for these conditions. More information can be found on Robyn's University of Sydney profile page.

> Other Research Team Members

• Laura Wedd, Ocular Genomics Project Officer
• Dr Alan Ma, Clinical Geneticist
• Professor John Grigg, Ophthalmologist
• Dr To Ha Loi, Research Officer
• Dr Amin Sabri, Research Officer
• Dr Steven Eamegdool, Research Officer
• Maddy Vereker, Research Assistant
• Anson Cheng, Research Assistant
• Benjamin Nash, PhD Student
• Fidelle Chahine Karam, PhD Student
• Dr Chris Watson, MPhil Student

Key publications

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. Genetics in Medicine, 2019, Sep;21(9):2103-2115. Epub 2019 Apr 10. PMID: 30967659

Cornish EE, Vaze A, Jamieson RV, Grigg JR. The electroretinogram in the genomics era: outer retinal disorders. Eye, 7 Jul 2021. PMID: 34234290.

Ma AS, Grigg JR, Flaherty M, Smith J, Minoche AE, Cowley MJ, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Slater K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Brown NJ, Leighton SE, Amor DJ, Goel H, Dinger ME, Bennetts B, Jamieson RV.  Genome sequencing in congenital cataracts improved diagnostic yield. Human Mutation, 8 Jun 2021. PMID: 34101287.

Nash BM, Watson CJ, Hughes E, Hou AL, Loi TH, Bennetts B, Jelovic D, Polkinghorne PJ, Gorbatov M, Grigg JR, Vincent AL, Jamieson RV. Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment. European Journal of Human Genetics, 2021 May;29(5):881-886. Epub 2021 Feb 25.  PMID: 33633367

Arsiwalla T, Cornish E, Vuong Nguyen P, Korsakova M, Ali H, Saakova N, Fraser CL, Jamieson RV, Grigg JR. Assessing residual cone function in retinitis pigmentosa patients. Translational Vision Science and Technology, 2020 Dec 17;9(13):29. PMID: 33364083

Zada M, Cornish EE, Fraser CL, Jamieson RV, Grigg JR. Natural history and clinical biomarkers of progression in X-linked retinitis pigmentosa: a systematic review. Acta Ophthalmologica, 2020 Nov 30 Online ahead of print. PMID: 33258268

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, Oct;22(10):1623-1632. Epub 2020 Jun 5. PMID: 32499604.

Mustafic N, Ristoldo F, Nguyen V, Fraser CL, Invernizzi A, Jamieson RV, Grigg JR. Biomarkers in Usher Syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings. Documenta Ophthalmologica. 2020 Apr 2. PMID: 32240425.

Grigg JR, Fraser CL, Hooper CY, Cornish EE, McCluskey PJ, Jamieson RV. Outcome measures in Juvenile X-linked Retinoschisis: A systematic review. Eye (Lond). 2020 Apr 20. PMID: 32313171.

Watson CJG, Nash BN, Loi TH, Grigg JR, Jamieson RV. Genetic variants and impact in PDE6B rod-cone dystrophy. In: Prakash G, Iwata T, editors. Advances in Vision Research, Volume III – Genetic Eye Research around the Globe, Springer Nature Singapore Pty Ltd. 2021.

Ma AS, Grigg JR, Jamieson RV.  Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis. Human Genetics, 2019, Sep; 138(8-9):899-915. Epub 2018 Sep 21. Epub ahead of print. PMID: 30242500

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

Ma AS, Grigg JR, Prokudin I, Flaherty M, Bennetts B, Jamieson RV.  New mutations in GJA8 expand the phenotype to include total sclerocornea. Clinical Genetics, 2018 Jan;93(1):155-159. Epub 2017 Sep 8. PMID: 28455998. 

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