Molecular and developmental genetics of blinding disorders of the eye.

Summary

We have identified novel genes in eye development through mouse models of eye disease as well as from human chromosomal translocation patients, and these will be characterized using a combination of phenotypic analyses, gene expression studies and molecular genetics techniques.

Supervisor(s)

Associate Professor Robyn Jamieson

Research Location

Westmead - Childrens Hospital at Westmead Clinical School

Program Type

Masters/PHD

Synopsis

Vision impairment leading to blindness is a significant health problem in our community and worldwide.  Genetic factors and abnormalities in eye development contribute to the burden of vision impairment due to their contributions to glaucoma (raised pressure in the eye), cataracts (clouding of the lens) and retinal abnormalities.  Underlying disease genes and their functions in most of these conditions are unknown.  The goal of our research program is to discover the disease genes important in these conditions and the functions of the proteins they encode, to pave the way for improved future treatments.  In this project we are focussing on novel genes in eye development that have been identified through mouse models of human eye disease, as well as from human chromosomal translocation patients.  The two mouse models under study have poorly formed eyes and in one there is raised intraocular pressure suggesting glaucoma.  The underlying pathological and molecular abnormalities will be determined using a combination of phenotypic analyses and gene expression studies.  The disease genes identified through the mouse model work, and from human translocation patient studies, will be examined using mutation detection techniques in humans with identical and related ocular anomalies.  Transgenic and deletion in-vitro model systems will be analysed to precisely characterise the impact of abnormal activity of the identified disease genes on the eye, and to elucidate the cellular and molecular pathways underpinning the vision impairment.

Additional Information

Technologies used in this project include: Molecular biological procedures including PCR, RT-PCR, sequencing, cloning, mutation detection methods, vector construction for transgenic and knockdown studies and cell culture applications, microarray studies, bioinformatic analyses, as well as in-situ expression studies and immunohistochemistry, and phenotypic characterisation of mouse mutants.

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Keywords

Vision, Blindness, Cataracts, Glaucoma, Eye, Genetics, Microphthalmia, Development, Mouse models, Human mutations, Hearing & vision problems, Infertility & developmental problems, Cell biology, Genes in biology & medicine, Reproduction & development, The senses

Opportunity ID

The opportunity ID for this research opportunity is: 146

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