Inherited Retinal Diseases: From Pathomolecular Mechanisms to Therapeutic Strategies, 2nd Edition
A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".
Deadline for manuscript submissions: 30 September 2025 | Viewed by 51
Special Issue Editor
Interests: human and mammalian genetics; gene and protein expression; retina; genetic diseases; molecular neurobiology
Special Issues, Collections and Topics in MDPI journals
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 in retinal function. To date, over 300 genes and loci have been associated with the pathogenesis of IRDs; however, a significant number of people suffering from these diseases worldwide remain undiagnosed, and these conditions are currently uncurable. In this context, the accurate genotyping of individuals with IRDs is essential in patient management and the identification of suitable candidates for gene therapies.
The analysis of IRDs represents a unique opportunity to work toward an increased 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. For this Biomedicines Special Issue, we invite 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 in their personalized diagnostics. In this context, recent reports dealing with patient genotyping (NGS, gene panels, etc.) and management are also welcome. In addition, this Special Issue will showcase articles that shed light on the molecular and cellular mechanisms underlying genetic retinal pathogenesis, including the functions of morbid genes and their protein products in retinal health and disease. Finally, we will also cover pharmacological, gene-specific, and stem-cell-based therapies for IRDs that are currently being investigated and developed, including papers reporting on clinical trials.
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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