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Anthony's Seeing is Believing supports The Foundation for Retinal Research 

The Foundation for Retinal Research was established in 1998 and is committed to finding treatments and cures for retinal degenerative diseases. The FRR is also committed to supporting the lives of families coping with vision loss by sharing resources and sponsoring bi-annual conferences for those interested in Lebers Congenital Amaurosis (LCA). The FRR is here to help parents of children born with LCA. Besides funding research for this disorder and searching for a cure, we also provide a support network of hundreds of other parents across the U.S. and overseas who can talk with each other and help guide through the most important time in the life of their children.

LCA Genes: A 2014 Reappraisal

Dr. Chader's talks some about the history of Leber Congenital Amaurosis and more importantly the great progress made in just the last few years in understanding the specific genes invovled and the mechanisms of site loss. Advances in gene therapy are moving unbelievably fast. Many researchers are focusing their efforts on LCA and they've already made great strides with the RPE65, GC1, and LRAT genes.  The video gives you an introducrtion to the cell replication process.

Dr. Jean Bennett Gene Treatment Pilot at UPenn

Manufacturing a gene-carrying virus and injecting that into a patient's retina can be a bit terrifying. A severe immune response during a gene therapy can be deadly.  Luckly the eye is an isolated organ and less likely to have an immune response and the treatment surpassed all expectations. The first three young adults treated—all legally blind, with vision worse than 20/200 and a small visual field, like looking down a gun barrel—saw so much more clearly that they could even read additional lines off an eye chart! The DNA in the virus vector provided functional genes that allow cell replication to occur properly.

The CRX Gene

The CRX gene is Anthony's gene.  The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. 


See the many talents and the happiness of the kids and families learning how to deal with blindness and hearing the progress being made on potential gene theropies... and of course some of the fun had when we come together as a community.

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