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Leber Congenital Amaurosis

All articles tagged with #leber congenital amaurosis

science4 hours ago•3 min saved

Sight Restored: Gene Therapy Breakthrough Wins Major Science Prize

A married couple and investigator Katherine High share a $3 million Breakthrough Prize for Luxturna, the gene therapy approved in 2017 that restores vision in people with Leber congenital amaurosis by delivering a working RPE65 gene to retinal cells; the 25-year project produced dramatic patient improvements and was celebrated at a Los Angeles ceremony, while scientists warned about politicized attacks on science and other prize-winning work highlighted advances in gene therapies for blood disorders.

via The Guardian|

#breakthrough-prize #gene-therapy #leber-congenital-amaurosis

health3 years ago•3 min saved

New drug offers hope for childhood blindness.

Researchers at the National Institutes of Health have identified Reserpine, an FDA-approved drug used to treat high blood pressure, as a potential treatment for Leber congenital amaurosis type 10 (LCA 10), an inherited retinal disease that can cause severe visual impairment or blindness in early childhood. The drug was found to promote the survival of photoreceptors, the cells that die in LCA, leading to vision loss. Reserpine appeared to partially restore autophagy, resulting in improved primary cilium assembly, and could potentially address retinal ciliopathies caused by many of the more than 160 disease-causing genes, regardless of the specific gene involved, without the need for expensive and labor-intensive gene therapy.

via National Institutes of Health (.gov)|

#fda #gene-therapy #health