Eye and Developmental Genetics Research Group

We are using new sequencing strategies and have found genetic answers for patients with blinding eye diseases, including retinitis pigmentosa, congenital cataracts and glaucoma.  This is leading to development of new genetic diagnostic possibilities for patients.

We are also exploring the role of several novel candidate disease genes affecting the eye.  These basic building blocks are helping to build towards improved treatment for blinding eye conditions.

Some of the molecular genetic aspects of this research are being undertaken in collaboration with Associate Professor Bruce Bennetts and staff of Sydney Genome Diagnostics of the Western Sydney Genetics Program.  Molecular cytogenetic aspects of this research are being undertaken in collaboration with Dr Greg Peters and staff of Sydney Genome Diagnostics.

The research team

> Professor Robyn Jamieson, Head of Eye and Developmental Genetics Research

Robyn is a Consultant in Clinical Genetics and her research is focussed on diseases of the eye caused by genetics. More information can be found on Robyn's University of Sydney profile page.

> Other Research Team Members

  • Associate Professor Bruce Bennetts, Molecular Genetics Dept Head
  • Dr Greg Peters, Cytogeneticist and Principal Scientist
  • Dr Dale Wright, Cytogenetics Dept Head and Principal Scientist
  • Dr Alan Ma, Clinical geneticist and PhD student
  • Dianne Sylvester, PhD Student

Key publications

Zagora SL, Funnell CL, Martin FJ, Smith JE, Hing S, Billson FA, Veillard AS, Jamieson RV, Grigg JR (2015) Primary congenital glaucoma outcomes: lessons from 23 years of follow-up. Am J Ophthalmol 159(4):788-96

Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H (2015) Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients. Clin Experiment Ophthalmol 43(2):132-8

Utami KH, Hillmer AM, Aksoy I, Chew EG, Teo AS, Zhang Z, Lee CW, Chen PJ, Seng CC, Ariyaratne PN, Rouam SL, Soo LS, Yousoof S, Prokudin I, Peters G, Collins F, Wilson M, Kakakios A, Haddad G, Menuet A, Perche O, Tay SK, Sung KW, Ruan X, Ruan Y, Liu ET, Briault S, Jamieson RV, Davila S, Cacheux V (2014) Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. PLoS One 9(6):e90852

Prokudin I, Simons C, Grigg JR, Storen R, Kumar V, Phua ZY, Smith J, Flaherty M, Davila S, Jamieson RV (2014) Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. Eur J Hum Genet 22(7):907-15

Skalicky SE, White AJ, Grigg JR, Martin F, Smith J, Jones M, Donaldson C, Smith JE, Flaherty M, Jamieson RV (2013) Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum. JAMA Ophthalmol 131(12):1517-24