Our group is mainly interested in the molecular genetics of retinitis pigmentosa (RP) and other retinal degenerations, a group of genetic disorders that lead to progressive loss of sight and blindness and are mostly transmitted as Mendelian traits. A peculiar feature of RP is its extreme genetic and allelic heterogeneity. Specifically, hundreds of different mutations in a few dozen genes have been so far identified as causative elements for this condition. Within this subject, we are particularly interested in the study of PRPF genes, which, if mutated, cause autosomal dominant RP.
Our technical expertise encompasses all classical methods of genetic investigation, with particular emphasis to high-throughput techniques such as parallel genotyping and UHT DNA sequencing.