New study sheds light on how genetic variation in motile cilia affects cilia structure and function

Defects in motile cilia in humans cause the rare disease Primary Ciliary Dyskinesia (PCD), affecting approximately 1 in every 10,000 to 30,000 people. People who have PCD are characterized by recurrent respiratory infections, left-right asymmetry defects, ear infections, and infertility. Even with genome and exome sequencing, 30% of the patients still don’t have a gene […]