Mutation-independent gene therapies for rod-cone dystrophies

C Fortuny, JG Flannery - Retinal Degenerative Diseases: Mechanisms and …, 2018 - Springer
Retinal Degenerative Diseases: Mechanisms and Experimental Therapy, 2018Springer
The clinical success of gene replacement therapies in recent years has served as a proof of
concept for the treatment of inherited retinal degenerations using adeno-associated virus
(AAV) as viral vector. However, inherited retinal degenerative diseases showcase a broad
genetic and mechanistic heterogeneity, challenging the development of mutation-specific
therapies for each specific mutation. Mutation-independent approaches must be developed
to slow down retinal degeneration regardless of the underlying genetic mutation and onset …
Abstract
The clinical success of gene replacement therapies in recent years has served as a proof of concept for the treatment of inherited retinal degenerations using adeno-associated virus (AAV) as viral vector. However, inherited retinal degenerative diseases showcase a broad genetic and mechanistic heterogeneity, challenging the development of mutation-specific therapies for each specific mutation. Mutation-independent approaches must be developed to slow down retinal degeneration regardless of the underlying genetic mutation and onset of the disease. New understanding of cell death mechanisms in rod-cone dystrophies have led to promising rescue of photoreceptor cell death by virally mediating expression of anti-apoptotic factors and secretion of retinal neurotrophic factors. Optogenetic therapies are also able to restore light sensitivities in blind retinas.
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