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primary ciliary dyskinesia

Expression and localization of CFAP57 in human airway epithelial cells
Researchers Discover New Gene Causing Primary Ciliary Dyskinesia
September 16, 2020

A new gene is linked to primary ciliary dyskinesia (PCD), a rare disease that affects the airways. Using whole exome sequencing and bioinformatic analysis, researchers from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) identified a variant in the CFAP57 gene that causes PCD, as published in the journal PLOS Genetics.

Genetic Disorders of Mucociliary Clearance Consortium
GDMCC
primary ciliary dyskinesia
PCD
Genetic Disorders of Mucociliary Clearance Consortium
New Lung Disease Reveals Gene Regulating Airway Mucociliary Clearance
May 05, 2020

What is the genetic cause behind impaired mucociliary clearance of the lungs? Researchers from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) contributed to the discovery of a new disease gene, NEK10, that regulates cilia length.

Genetic Disorders of Mucociliary Clearance Consortium
GDMCC
mucociliary clearance
bronchiectasis
cystic fibrosis
CF
primary ciliary dyskinesia
PCD
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Genetic Disorders of Mucociliary Clearance Consortium
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The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). The RDCRN websites are hosted by the network’s Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, which is funded by NCATS and the National Institute of Neurological Disorders and Stroke (NINDS) under grant number TR002818.