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Molecular Biology and Gene Therapies for Inherited Retinal Degenerations
Inherited forms of retinal degeneration, which afflict 1 in 3000 people worldwide, arise primarily from mutations in transcripts expressed in rod and cone photoreceptors and retinal pigment epithelial cells. The outer retina is therefore the primary target for ocular gene therapies. Photoreceptor degeneration is a very genetically heterogeneous disorder; with mutations in over 200 loci identified. Our laboratory focuses on understanding the genetic and mechanistic underpinning of photoreceptor degeneration, and developing rational therapies for these blinding conditions. The genetic and biochemical diversity of photoreceptor degnereration presents major challenges for therapy as there are many pathways to cell death.
Gene therapy has great potential for treating retinal diseases including glaucoma, age-related macular degeneration, and inherited photoreceptor diseases. To date, most gene therapies have targeted monogenic recessive retinal diseases and employed viral vectors to transfer a 'normal ' copy of the mutated gene to the affected cell. We are currently developing animal models of inherited retinal diseases to study the disease processes. In parallel, we are designing viral mediated therapies for autosomal dominant and recessive retinal degnenerations.
Molecular Biology and Gene Therapies for Inherited Retinal Degenerations
Inherited forms of retinal degeneration, which afflict 1 in 3000 people worldwide, arise primarily from mutations in transcripts expressed in rod and cone photoreceptors and retinal pigment epithelial cells. The outer retina is therefore the primary target for ocular gene therapies. Photoreceptor degeneration is a very genetically heterogeneous disorder; with mutations in over 200 loci identified. Our laboratory focuses on understanding the genetic and mechanistic underpinning of photoreceptor degeneration, and developing rational therapies for these blinding conditions. The genetic and biochemical diversity of photoreceptor degnereration presents major challenges for therapy as there are many pathways to cell death.
Gene therapy has great potential for treating retinal diseases including glaucoma, age-related macular degeneration, and inherited photoreceptor diseases. To date, most gene therapies have targeted monogenic recessive retinal diseases and employed viral vectors to transfer a 'normal ' copy of the mutated gene to the affected cell. We are currently developing animal models of inherited retinal diseases to study the disease processes. In parallel, we are designing viral mediated therapies for autosomal dominant and recessive retinal degnenerations.
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Lindsey Chew,Daniel Grigsby, C. Hester,Joshua Amason, Tara Weisz,Meike Visel,John Flannery,Catherine Rickman
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 7 (2022)
Proceedings of the National Academy of Sciencesno. 13 (2022)
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