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
New Lung Disease Reveals Gene Regulating Airway Mucociliary Clearance Dakota Campbell Tue, 05/05/2020 - 15:54
Genetic Disorders of Mucociliary Clearance Consortium

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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