
Rare respiratory disease – primary ciliary dyskinesia – is more common than previously thought: IUSM analysis
The prevalence and genetic variance of the rare respiratory disease – primary ciliary dyskinesia (PCD) — is more common than previously thought, shows a recent global data analysis. A large set of data analysis led by Professor Benjamin Gaston from Indiana University School of Medicine showed that this genetic condition that — affects a protective function of the respiratory system — was detected in at least 1.8 lakh people. The analysis, published in The Lancet Respiratory Medicine, said that PCD, which can lead to chronic health issues, including chronic, daily coughing and congestion, recurring respiratory and ear infections and severe lung damage, is over twice as common at about 1 in 7,500.
Using information from two databases, the research team screened the genetic sequences of 180,000 unique people for disease-causing variants of 29 genes that are linked to autosomal recessive PCD, which was previously estimated to occur in only about 1 in 16,000 people. However, the new data showed that out of the 29 genes studied, 5 most common genes with PCD-causing variants were different in different ethnic populations.