Special Issue "Retinal Degeneration: Molecular Mechanism, Pathogenesis and Treatment"
Deadline for manuscript submissions: 15 March 2021.
Interests: retinitis pigmentosa; cell death mechanism; calcium; cGMP; neuroprotection
Degenerative diseases of the retina are characterized by the loss of photoreceptor cells and loss of vision. In the last thirty years, over 100 genes linked to inherited forms of these diseases have been identified, paving the way for multiple studies on the pathogenesis of these disorders. These studies underlined in retinal degeneration high genetic heterogeneity with autosomal dominant, recessive and X-linked inheritance, which hampers the development of a single treatment for such diseases. There have been extensive advances in our understanding of the mechanisms underlying photoreceptor demise. Some mechanisms are exclusive in specific forms of retinal degeneration but others appear to act as general responses in photoreceptors undergoing cell death. Studies on the identification of key molecules that can be targets for novel therapeutic intervention are under investigation. High enthusiasm arose with the first approval of an AAV-based gene therapy product for the treatment of LCA2 (Leber Congenital Amaurosis type 2), but such a specialized approach applies only to patients with recessive mutations in the RPE65 gene. Nevertheless, this recent success opened up new research topics for the development of novel biotechnological therapeutic molecules for inherited and non-inherited forms of retinal dystrophy based on either gene-specific or non-gene-specific approaches.
Contributions to this Special Issue should provide new insights into the pathogenesis of retinal degeneration, deepen our understanding of the molecular mechanisms activated in degenerating photoreceptors and discuss novel therapeutic opportunities based on gene supplementation therapy, RNA-based therapy and gene-independent neuroprotective approaches.
Prof. Valeria Marigo
Manuscript Submission Information
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- retinitis pigmentosa
- Leber Congenital Amaurosis
- Stargardt disease
- mutant protein
- cell death