Degeneration of the retina and loss of vision happens to millions of young and old people in the world. Fortunately, in the past decade more than
160 genes involved in hereditary eye diseases have been identified, and many more will be revealed. This knowledge provides ophthalmologists and genetic counselors with diagnostic tools to predict the inheritance of the eye disease and to discuss this with their patients.
We need to unravel the function of all the identified genes to work towards meaningful therapeutic traits. My laboratory uses high-tech genetic and biological approaches to obtain insight in the onset of retinal degeneration, and to unravel the normal molecular pathways that fail to function under such circumstances. To reach our biomedical objectives we have intense collaborations ongoing with other researchers around the world.
We have developed
mouse models and other tools to study CRB1-mediated Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP). We currently focus on cell polarity and adhesion control proteins: the CRB1-family proteins (CRB1, CRB2, CRB3), the MAGUK-family proteins (e.g. MPP3, MPP4, Pals1 or MPP5), the PDZ-motif containing proteins (MUPP1, PATJ), and others.