Unravelling signalling in eye development and the links to blinding disorders.

Summary

We have identified a mouse model of eye disease with an abnormality in a signalling pathway.  This project will characterise the underlying pathological and molecular abnormalities using a combination of phenotypic analyses and gene expression studies.

Supervisor(s)

Associate Professor Robyn Jamieson

Research Location

Westmead - Childrens Medical Research Institute

Program Type

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 signalling pathways in eye development.  We have identified a mouse model with signalling pathway abnormalities which has poorly formed eyes and vision impairment.  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 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 signalling genes on the eye, and to elucidate the cellular and molecular pathways underpinning the vision impairment.

Additional Information

The Children’s Medical Research Institute (CMRI) is an award-winning state-of-the-art medical research facility, with over 100 full-time scientists dedicated to researching the genes and proteins important for health and human development. The CMRI is supported in part by its key fundraiser Jeans for Genes®. Our scientists are internationally recognised research leaders and foster excellence in postgraduate training. CMRI graduates are highly sought after nationally and internationally. CMRI is located at Westmead, a major hub for research and medicine in NSW, and is affiliated with the University of Sydney. Easy to access by public transport.Projects are multi-disciplinary with training in molecular and cellular biology techniques, with some involving mass spectrometry, proteomics, protein-protein interactions, transgenic animals or live cell imaging.We are looking for top quality students who can prove a dedicated interest and enthusiasm for scientific research. Candidates may apply for a CMRI PhD scholarship, which exceeds the Australian Postgraduate Awards and NHMRC scholarships in value; see http://www.cmri.org.au/GRADUATE-OPPORTUNITIES/default.aspx for details.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, Signalling, 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: 8

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