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. © 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
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.