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Primary Ciliary Dyskinesia (PCD) exemplifies how international collaboration can transform the study of a rare disease. Since the identification of the first PCD-associated genes in 1999-2002, parallel developments in Europe and North America, driven by patient organizations, academic investigators, and coordinated funding initiatives, have progressively converged into a unified global research infrastructure. Early milestones included the founding of patient advocacy groups, the NIH-funded...

Biological cilia are prevalent organelles found in a wide range of human organs. Despite their small size, natural cilia feature exquisite and intricate architecture and play an important role in human life. For example, motile cilia in the brain and lung are responsible for fluid propulsion and particle removal. Furthermore, primary cilia in the epidermis and inner ear have sensitive detection capabilities for pressure and sound. Over the last three decades, researchers have created various...

Primary cilia play an essential role in molecular signaling transduction during development, coordinating cell fate decisions and morphogenesis. Defects in components of the primary cilium result in an array of developmental syndromes called ciliopathies. Here we report 24 patients with nine rare and seven novel variants in the primary cilia gene C2CD3, which has previously been implicated in the ciliopathy Orofaciodigital syndrome XIV. Patients displayed an array of dental defects impacting the...

CONCLUSIONS: Our findings establish PIH1D2 as a novel disease gene for left isomerism heterotaxy, with biliary atresia observed in one of the patients. Loss of PIH1D2 impairs ciliogenesis and cell cycle progression, providing a mechanistic link between ciliary defects and abnormal left-right patterning. These results expand the spectrum of cilia-related laterality disorders and identify PIH1D2 as a critical regulator of human development.

Primary cilia are signaling hubs that influence nearly every aspect of cell physiology. Neuronal primary cilia were recently found to form extensive attachments to glia in the mammalian brain, but it is not known how these attachments form or what functions they serve. Defects in cilia cause profound neurological disorders, highlighting the importance of understanding the specialized functions of neuronal cilia. Here, we use a genetic screen in Caenorhabditis elegans to determine how a...