Université de Strasbourg

Human blinding diseases

Human blinding diseases: breaking new ground using a novel small mammal model to analyze cone function and survival

USIAS Fellows : Franck Baas, David Hicks and Maarten Kamermans

Loss of central vision in humans leads to severe handicap; age-related macular degeneration (AMD) represents the 3rd cause of blindness worldwide. The principal cause of sight loss is cone degeneration: cones are concentrated within the macula and provide high acuity chromatic vision. However, detailed study of cone gene expression, structure and function has been greatly hampered by their paucity in mouse models (1-3% cones). The diurnal rodent Arvicanthis ansorgei possesses ~33% cones organised in rows, greatly facilitating their analysis. Arvicanthis are highly resistant to drug- and light-induced retinal toxicity, suggesting the existence of endogenous neuroprotective mechanisms. Using next generation sequencing techniques, the project aims to sequence the Arvicanthis whole genome, and to perform gene expression profiling on cones isolated by laser capture micro-dissection (LCM). Sequence data will be validated by quantitative PCR, and roles of candidate genes will be explored by shRNA knockdown or preparation of knockout mice.

Investissements d'Avenir