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.
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.
