#  Discovery Fills a Gap in Understanding, Diagnosing Primary Ciliary Dyskinesia 

 





Study finds mutations in two genes that disrupt ability of cilia to clear mucus in lungs



 

September 15, 2026

 

 

Hair-like appendages called motile cilia beat in synchrony on cells in many parts of the body to keep fluids and particles moving along, such as clearing mucus in the lungs so it can be coughed out.

Genetic mutations can compromise ciliary structure and function and cause disease. For instance, changes in any of more than 50 genes are known to cause primary ciliary dyskinesia (PCD), a rare disease that can damage the respiratory tract, inner ear, heart, reproductive tract, and other organs. Currently, treatments can only slow progression of PCD, not stop or cure it, and an estimated 20 to 30 percent of cases remain genetically unexplained.

A team led by researchers at Harvard Medical School and University Children’s Hospital Münster in Germany has now unveiled the detailed structure and composition of an understudied part of the cilium known as the transition zone — revealing that abnormalities in this zone can play a role in PCD and implicating two new genes in the disease.

The findings, [published Sept. 10 in *Science*](https://doi.org/10.1126/science.aei5957), provide an explanation for at least some of the patients whose PCD has been a genetic mystery and could improve doctors’ ability to diagnose the disease. The work also offers additional genes and proteins for researchers to target as they try to develop treatments.

On a basic-science level, the study deepens understanding of how cilia work and calls scientists’ attention to the transition zone in diseases involving motile cilia.

“This is an example of how combining in situ structural biology with genetics can address fundamental questions and illuminate the causes of human disease,” said co-senior author [Alan Brown](https://brown.hms.harvard.edu/), professor of biological chemistry and molecular pharmacology in the Blavatnik Institute at HMS.

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