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scaper in the retina

scaper in the retina

The role of SCAPER in retina and brain

Mutations in SCAPER cause a combination of retinal degeneration and intellectual disability. To further characterize the roles of SCAPER in retina and brain we aim to identify SCAPER-interacting proteins in
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PRCD structure

The role of PRCD in the retina

The PRCD gene is highly expressed in the retina, while in other tissues expression is negligible. It encodes a protein of 54 amino acids (aa) in humans. Mutations in PRCD cause retinal
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DNA

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
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Inherited retinal diseases (IRD) are a heterogeneous group of diseases, which cause visual loss due to the premature death of retinal photoreceptors. These include Retinitis Pigmentosa (RP), Cone-Rod degeneration (CRD), Leber Congenital Amaurosis (LCA) and more. Over 200 genes and loci have been implicated in IRD. However, the contribution of each of these genes to the overall prevalence of IRD is relatively small, and in many patients the underlying genes are yet to be found. Many of the unidentified genes are likely to be very rare. The genetic makeup of the Israeli population is unique, and many of the genetic alterations identified in Israeli patients are novel. Work in our lab is focused on identification of the genetic basis for IRD in the Israeli population. In addition, we perform functional studies of genes associated with IRD. Research projects in the lab combine advanced techniques in Human Genetics, cell culture, mouse models and more. Our work has important implications for molecular diagnosis, carrier screening and genetic counseling to IRD patients. In addition, our findings contribute to the understanding of the etiology of IRD and of normal retinal function.