The genetic basis for inherited retinal diseases in the Israeli population

Inherited Retinal Diseases (IRDs), a heterogeneous group of blinding diseases, are one of the most genetically heterogeneous conditions in humans, with over 200 causative genes identified to date. The genetic makeup of the Israeli population is unique, and many of the genetic alterations identified in Israeli patients are novel. Our research takes advantage of the unique genetic structure of the Israeli population and searches for novel genes and mutations underlying IRD. In recent years we identified several novel IRD-causative genes, including C2ORF71, PDE6G and SCAPER. Once such genes are identified, we characterize them in terms of their expression pattern, cellular localization, and interacting proteins in the retina, to better understand their retinal function. For this purpose we use a variety of techniques and model organisms, including cultured cells, mouse models, yeast and more.

Studying the molecular basis for IRD in Israeli families has strong implications for Israeli public health (in terms of molecular diagnosis, genetic screening and genetic counseling); but moreover, it provides a unique opportunity to identify novel genes which play a crucial role in retinal development and function, hence contributing significantly to the field of eye research and future development of new therapeutic strategies.