The main research interest and mission of these two joint groups is to develop novel therapeutic strategies for individuals suffering from rare diseases. In particular, we focus on inherited retinal diseases (IRDs) -a group of progressive disorders that lead to degeneration of the light-sensitive cells within the retina, and result in severe visual impairment- and neurometabolic disorders (NMDs) -a group of diseases with multiple organs affected-. Starting after the identification of the DNA defect(s) underlying a given subtype of IRD or NMD, various cellular and/or animal models are combined with state-of-the-art molecular techniques to understand the relationship between genetic variation and cellular dysfunction, as well as to test and optimize strategies to overcome these genetic defects. Therapeutic strategies include, but are not restricted to, (micro)gene augmentation, splicing modulation and, more recently, DNA or RNA editing. The first ever splicing modulation therapy for a subtype of IRD (employing an antisense oligonucleotide to correct a splicing defect in CEP290) was developed in our lab and recently.l.