Since the beginning of my thesis, I am working on retinitis pigmentosa. With a prevalence of about 1/4000, Retinitis Pigmentosa (RP) is the most frequent inherited degeneration of the retina. Genetically and phenotypically RP is highly heterogeneous. So far, more than 40 genes have been reported responsible for RP. Nevertheless, the molecular causes of this disease is still unknown in about 50 % of patients (Maubaret et al., 2005. I am looking for new genes responsible for RP by mapping in large families. I have found two new mutations in two families, a known mutation in another family. At the moment, I am writting articles reporting those new mutations and we are recruiting new families, which hopefully will map to a new locus. Additionnally, I am screnning candidate genes by direct sequencing in panel of patients.
I am also implicated in the characterisation of a mouse model (KI PRPF31) and search for potential interacting partners for this protein by yeast-two-hybrid.