Inherited retinal disorders are characterized by a remarkable genetic heterogeneity; so far, over 160 genes have been identified as responsible for this kind of diseases. Nevertheless, it is believed that the total number of retinal disease genes is much higher then what is currently known. Central to the first part of this PhD thesis was to identify new candidate genes for retinal disorders. The approach used to achieve this goal was based on in silico prediction of genes with exclusive or predominant retinal expression in human retina, followed by experimental verification of their predicted expression by both RT-PCR and RNA in situ hybridization. The work carried out for this part of the thesis provided a list of new candidate disease genes for inherited retinal disorders.
The second part of this PhD project aimed at the generation of a high resolution gene expression atlas of retinitis pigmentosa (RP) genes in human and murine retina. RP is one of the leading causes of visual handicap in the world population. The study of the disease mechanisms and the development of efficient therapeutic approaches have mostly relied on the availability of animal models for this condition, so far. Nevertheless, little information is available about the RNA expression profiles of RP genes in the human retina. To overcome this lack of information, I generated the first gene expression atlas of 34 known RP genes in human and murine retinas. Differences observed in the expression patterns of some genes in human and mouse will open new perspectives on the function of these genes and on their putative roles in disease pathogenesis
