Inherited Retinal Diseases: From Pathomolecular Mechanisms to Therapeutic Strategies
A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".
Deadline for manuscript submissions: 31 January 2025 | Viewed by 9179
Special Issue Editor
Special Issue Information
Dear Colleagues,
Inherited retinal diseases (IRDs) constitute a large group of genetically and clinically heterogeneous disorders characterized by photoreceptor degeneration or dysfunction, with the ensuing degeneration of the retina ultimately leading to the loss of visual function and legal blindness. These disorders collectively affect 1 in ca. 3,000 people and are caused by pathogenic variants of genes encoding proteins that are critical for retinal function. To date, over 300 genes and loci have been associated with the pathogenesis of IRDs; however, a significant fraction of people suffering from these diseases in the world remain undiagnosed, and at this date they are uncurable. In this context, the accurate genotyping of individuals with IRDs is essential for patient management and the identification of suitable candidates for gene therapies.
The analysis of IRDs represents a unique opportunity towards increasing understanding of the pathophysiological mechanisms underlying retinal degeneration and the development of new therapeutic approaches. The large number of genes that have so far been identified as IRD-causative are paving the way for personalized diagnoses and precision therapies in the clinic. This Biomedicines Special Issue invites contributions dealing with the identification of new genes and variants associated with these ocular disorders, in addition to the application of genetic and genomic technologies to their personalized diagnostics. In this context, recent reports dealing with patient genotyping (NGS, gene panels, etc.) and management will also be acknowledged. In addition, this Special Issue will welcome articles that shed light on the molecular and cellular mechanisms of genetic retinal pathogenesis, including the functions of morbid genes and their protein products in retinal health and disease. Finally, the latest therapies (pharmacological, gene-specific, stem-cell-based, etc.) for IRDs that are under investigation and development, including clinical trials, will also be covered.
Dr. José Martín-Nieto
Guest Editor
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Keywords
- blindness
- gene and protein function
- pathogenesis
- personalized diagnosis
- precision therapy
- retina
- retinal degeneration.
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