Ciliopathies are a group of disorders associated with genetic defects in genes encoding proteins that regulate the formation or function of cilia. Cilia, extending from the surface of nearly all vertebrate cells, are highly conserved structures with a wide range of essential functions. Depending on the cell type cilia can be motile or non-motile. Consequently, ciliary dysfunction affects many organs and systems, manifesting as a constellation of features that include retinal degeneration, cystic kidney disease (renal dysfunction), cerebral anomalies, respiratory infections, infertility, fibrocystic liver diseases, diabetes, obesity and skeletal dysplasias. These conditions often have a significant social and economic impact. Hundreds of proteins have been identified in human cilia, with over 240 established ciliary proteins representing candidate ciliopathy proteins, making ciliopathies complex and multi-systemic diseases. Even more proteins, with cytoplasmic localization, are involved in cilia assembly. Not rarely, individuals carry disease-causing mutations in the same gene (sometimes even identical variants), but the disease may manifest with varying degrees of clinical complexity (organ manifestations) and clinical severity (organ dysfunction), complicating the diagnostic process. Currently, there is no cure for most ciliopathies; treatments only alleviate symptoms. Therefore, further efforts are needed to understand these disorders better, to provide improved (prenatal) diagnoses, and possibly pave the way for personalized treatments. The simultaneous integration of multi-omics approaches, such as genomics, transcriptomics, and proteomics, represents a powerful method for understanding disease mechanisms. Although few multi-omics studies have been reported for ciliopathies, this approach could aid understanding of the molecular basis of ciliopathies. This, in turn, could help unveil their phenotypic heterogeneity observed in ciliopathies. In addition, disease biomarkers might be identified, thereby increasing diagnostic yield and prediction of disease progression. Therefore, this Research Topic welcomes Original Research articles and Reviews focusing on the following subjects: -Exploring multi-omics studies in individuals affected by ciliopathies, especially those investigating why individuals with shared genotypes manifest varying clinical severities (such as differences in penetrance and expressivity). -Investigating the most recent advancements in bioinformatic tools aimed at integrating and deciphering multi-omics data. -Studies that do not use multi-omics approaches but also help to explain distinct clinical ciliopathy phenotypes caused by disease-causing variants in the same gene are also welcome. -Establishing correlations or associations between studies conducted on ciliopathies patients and those related to more prevalent diseases. -Emphasizing the significance of ciliopathies research as a means to uncover various biological questions.
Ciliopathies are a group of disorders associated with genetic defects in genes encoding proteins that regulate the formation or function of cilia. Cilia, extending from the surface of nearly all vertebrate cells, are highly conserved structures with a wide range of essential functions. Depending on the cell type cilia can be motile or non-motile. Consequently, ciliary dysfunction affects many organs and systems, manifesting as a constellation of features that include retinal degeneration, cystic kidney disease (renal dysfunction), cerebral anomalies, respiratory infections, infertility, fibrocystic liver diseases, diabetes, obesity and skeletal dysplasias. These conditions often have a significant social and economic impact. Hundreds of proteins have been identified in human cilia, with over 240 established ciliary proteins representing candidate ciliopathy proteins, making ciliopathies complex and multi-systemic diseases. Even more proteins, with cytoplasmic localization, are involved in cilia assembly. Not rarely, individuals carry disease-causing mutations in the same gene (sometimes even identical variants), but the disease may manifest with varying degrees of clinical complexity (organ manifestations) and clinical severity (organ dysfunction), complicating the diagnostic process. Currently, there is no cure for most ciliopathies; treatments only alleviate symptoms. Therefore, further efforts are needed to understand these disorders better, to provide improved (prenatal) diagnoses, and possibly pave the way for personalized treatments. The simultaneous integration of multi-omics approaches, such as genomics, transcriptomics, and proteomics, represents a powerful method for understanding disease mechanisms. Although few multi-omics studies have been reported for ciliopathies, this approach could aid understanding of the molecular basis of ciliopathies. This, in turn, could help unveil their phenotypic heterogeneity observed in ciliopathies. In addition, disease biomarkers might be identified, thereby increasing diagnostic yield and prediction of disease progression. Therefore, this Research Topic welcomes Original Research articles and Reviews focusing on the following subjects: -Exploring multi-omics studies in individuals affected by ciliopathies, especially those investigating why individuals with shared genotypes manifest varying clinical severities (such as differences in penetrance and expressivity). -Investigating the most recent advancements in bioinformatic tools aimed at integrating and deciphering multi-omics data. -Studies that do not use multi-omics approaches but also help to explain distinct clinical ciliopathy phenotypes caused by disease-causing variants in the same gene are also welcome. -Establishing correlations or associations between studies conducted on ciliopathies patients and those related to more prevalent diseases. -Emphasizing the significance of ciliopathies research as a means to uncover various biological questions.