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Department of Molecular Genetics
Institute of Ophthalmology
University College London

Retinits pigmentosa and allied retinal degenerations are a major cause of inherited blindness in the Western World. Genetic linkage studies and positional cloning/candidate gene approaches have led to the identification of a large number of genes for these degenerative retinopathies (see Retnet/home.htm). Through such work important clues to the biological and biochemical functioning of the relevant cell type have been obtained. However, a great deal of work still remains to be done both in relation to the identification of novel genetic loci / genes for hereditary retinopathies and associated disease mechanisms, as well as characterisation of novel retinal genes. This is confirmed by the fact that in a large number of patients and family DNA samples gene mutations remain to be identified. It is anticipated that only when a more comprehensive understanding of the normal development and functioning of the retina is established that effective and long-term treatment strategies could be explored.

The Ph.D studies will focus on the molecular genetics of inherited retinal degenerations. A comprehensive training in: 1. Linkage mapping using hypervariable marker systems (microsatellite, SNPs); 2. Positional cloning, physical contig mapping; 3. Gene prediction, bioinformatics; 4. Mutation screening; 5. PCR based direct genomic sequencing; 6. Functional studies including expression analysis, confocal microscopy, Western blotting, quantitative RNA analysis; 7. Writing of lab reports and manuscripts for publication, scientific seminars and poster presentation skills.

For further details, please contact:
Prof. Shomi Bhattacharya