We employ following strategies to evaluate the function of these proteins in mediating the development and function of the TZ of photoreceptors as well as to develop treatment strategies for associated disorders:
- Protein-Protein interactions: We utilize large-scale co-immunoprecipitation followed by mass spectrometry analyses to identify the macromolecular protein complexes involved in mediating the sorting and transport of proteins.
- In vivo animal models: We utilize mouse and zebrafish models to assess the role of ciliary proteins in photoreceptor development and maintenance. We also utilize these assays to evaluate the pathogenic potential of human disease mutations in ciliary proteins.
- Develop gene-based and small molecule based therapeutic approaches: Our recent studies have revealed new knowledge about the function of some ciliary proteins, which have prompted us to develop assays to assess the potential of gene augmentation or identification of small molecules in ameliorating ciliary defects associated with RPGR, RP2 and CEP290 mutations.