Retinitis pigmentosa: gene discovery and functional analysis through advanced genomics and zebrafish studies

The general objective of this project is disease gene discovery in sporadic or autosomal recessive retinitis pigmentosa (RP). Specific objectives are: (1) prescreening of all known RP genes using next-generation sequencing (NGS); (2) identification of new disease genes through homozygosity mapping and NGS of candidate regions; (3) in vivo functional analysis of newly identified RP genes in zebrafish.