About this Research Topic
Inherited retinal diseases (IRDs) are a heterogeneous group of diseases affecting millions of individuals worldwide and causing the retina to degenerate, leading to blindness. These genetic anomalies are inherited in a rare Mendelian fashion and classified based on whether they affect the retina alone (non-syndromic RD) or in conjunction with other systemic disorders (syndromic RD). Among the non-syndromic forms, retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), and bestrophinopathies can be distinguished. On the other hand, the most common type of syndromic IRDs are Usher and Bardet-Biedl Syndromes
The emergence of next-generation sequencing (NGS) has revolutionized the field of rare diseases. Specifically, whole-exome sequencing (WES) has been a game-changer, revealing a sizable amount of novel genotype-phenotype association. Despite that over 260 genes have been identified so far, a sizable fraction (30%) remains missing. In addition, most genetic associations and gene prevalence data were reported in Western European, North American, and East Asian populations, with no evidence of replication in other ethnicities. Furthermore, a substantial difference in the genetic causes of IRDs exists across the different patients' cohorts. Therefore, to draw a broader conclusion, there is a need to investigate the genetics of IRDs in the understudied ethnicities and analyze their research output and productivity.
Submitted manuscripts could be original research, reviews, mini reviews, short communications, perspectives that fall under the following topics:
· Novel genotype associations with IRDs and their forms (RP, LCA,..) in understudied populations using NGS (targeted, whole exome and whole genome).
· Gene prevalence data for IRDs and their forms in cohorts from understudied populations using NGS.
· Analysis of the research output and productivity related to IRD genetics in specific countries or regions.
· Understanding the role and function of IRDs-causing mutations.
· Cases series are welcomed if they use NGS or short-read sequencing to report new causal genes or novel genotype-phenotype associations.
· Case Reports are also considered if they report new causal genes or novel genotype-phenotype associations possibly verified through functional studies.
The emergence of next-generation sequencing (NGS) has revolutionized the field of rare diseases. Specifically, whole-exome sequencing (WES) has been a game-changer, revealing a sizable amount of novel genotype-phenotype association. Despite that over 260 genes have been identified so far, a sizable fraction (30%) remains missing. In addition, most genetic associations and gene prevalence data were reported in Western European, North American, and East Asian populations, with no evidence of replication in other ethnicities. Furthermore, a substantial difference in the genetic causes of IRDs exists across the different patients' cohorts. Therefore, to draw a broader conclusion, there is a need to investigate the genetics of IRDs in the understudied ethnicities and analyze their research output and productivity.
Submitted manuscripts could be original research, reviews, mini reviews, short communications, perspectives that fall under the following topics:
· Novel genotype associations with IRDs and their forms (RP, LCA,..) in understudied populations using NGS (targeted, whole exome and whole genome).
· Gene prevalence data for IRDs and their forms in cohorts from understudied populations using NGS.
· Analysis of the research output and productivity related to IRD genetics in specific countries or regions.
· Understanding the role and function of IRDs-causing mutations.
· Cases series are welcomed if they use NGS or short-read sequencing to report new causal genes or novel genotype-phenotype associations.
· Case Reports are also considered if they report new causal genes or novel genotype-phenotype associations possibly verified through functional studies.
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