Researchers Discover New Gene Causing Primary Ciliary Dyskinesia Dakota Campbell Wed, 09/16/2020 - 15:07
Expression and localization of CFAP57 in human airway epithelial cells
Expression and localization of CFAP57 in human airway epithelial cells. © 2020 Bustamante-Marin et al. This is an open access article distributed under the terms of the Creative Commons Attribution License.

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.

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.