Cilia are ubiquitous cellular organelles involved in both motile and non-motile functions. Dysfunction of cilia leads to ciliopathies, a growing group of diseases with 35 established types and over 400 associated genes. Ciliopathies are caused by defects in ciliary proteins or non-ciliary proteins that affect ciliary function. These diseases are linked to a wide range of human conditions, including respiratory and neurological disorders. The study of ciliopathies has enhanced understanding of ciliary functions, such as ciliary gating, intraflagellar transport, and signaling. Cilia are composed of the basal body and axoneme, with the transition zone playing a key role in compartmentalizing ciliary functions. The transition zone controls the entry and exit of proteins, and its dysfunction can lead to ciliopathies. Ciliogenesis involves the formation of the basal body, transition zone, and axoneme, with intraflagellar transport (IFT) playing a central role in transporting ciliary proteins. Ciliopathies can be classified into first-order and second-order types, depending on whether the defect is in a ciliary protein or a non-ciliary protein. Ciliopathies are associated with a variety of diseases, including primary ciliary dyskinesia (PCD), sensory ciliopathies, and syndromes such as Bardet-Biedl syndrome (BBS) and Meckel syndrome (MKS). The study of ciliopathies has revealed the importance of cilia in signaling, development, and disease. Research into ciliary proteins and their functions continues to uncover new insights into ciliary biology and the molecular mechanisms underlying ciliopathies. The identification of ciliary proteins and their roles in disease is crucial for understanding and treating ciliopathies. Advances in genetic and molecular studies are helping to uncover the genetic basis of ciliopathies and their associated diseases. The study of ciliopathies is an important area of research with implications for understanding human health and disease.Cilia are ubiquitous cellular organelles involved in both motile and non-motile functions. Dysfunction of cilia leads to ciliopathies, a growing group of diseases with 35 established types and over 400 associated genes. Ciliopathies are caused by defects in ciliary proteins or non-ciliary proteins that affect ciliary function. These diseases are linked to a wide range of human conditions, including respiratory and neurological disorders. The study of ciliopathies has enhanced understanding of ciliary functions, such as ciliary gating, intraflagellar transport, and signaling. Cilia are composed of the basal body and axoneme, with the transition zone playing a key role in compartmentalizing ciliary functions. The transition zone controls the entry and exit of proteins, and its dysfunction can lead to ciliopathies. Ciliogenesis involves the formation of the basal body, transition zone, and axoneme, with intraflagellar transport (IFT) playing a central role in transporting ciliary proteins. Ciliopathies can be classified into first-order and second-order types, depending on whether the defect is in a ciliary protein or a non-ciliary protein. Ciliopathies are associated with a variety of diseases, including primary ciliary dyskinesia (PCD), sensory ciliopathies, and syndromes such as Bardet-Biedl syndrome (BBS) and Meckel syndrome (MKS). The study of ciliopathies has revealed the importance of cilia in signaling, development, and disease. Research into ciliary proteins and their functions continues to uncover new insights into ciliary biology and the molecular mechanisms underlying ciliopathies. The identification of ciliary proteins and their roles in disease is crucial for understanding and treating ciliopathies. Advances in genetic and molecular studies are helping to uncover the genetic basis of ciliopathies and their associated diseases. The study of ciliopathies is an important area of research with implications for understanding human health and disease.