Identification of genetic defects in families segregating rare eye disorders using next generation genomic tools. Genetics of Waardenburg Syndrome

We have recruited several families segregating autosomal recessive forms of ocular disorders including retinitis pigmentosa, Waardenburg syndrome, and Keratoconus. The proposed research is designed to identify the genetic defects in Saudi families segregating hereditary eye disorders. We aim to use next-generation genomic tools including high-density SNP genotyping and whole-exome sequencing in families with genetic disorders in order to delineate mutations in underlying genes. This would improve screening and help in diagnosing currently unrecognized cases and help in the management of the disease. In addition, the determination of the genetic defects underlying ocular disorders could lead to the development of molecular therapies including gene therapy.