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A rare respiratory disorder called primary ciliary dyskinesia (PCD) is more common than previously thought, according to a large data analysis led by Indiana University School of Medicine professor Benjamin Gaston, MD
The analysis, recently published in The Lancet Respiratory Medicine, was designed to measure the global prevalence and genetic variation of PCD, a genetic disorder that affects the protective function of the respiratory system
Using information from two databases, the team screened the genetic sequences of 180,000 individuals for 29 disease-causing genetic variants associated with autosomal recessive PCD
"This is very important for clinicians
The scientists also looked at disease prevalence in seven racial groups, a factor for which previous data were limited
Importantly, the data showed that, of the 29 genes studied, the 5 most common genes responsible for PCD variants differed across ethnic groups
"I hope clinicians can lower the threshold for evaluating PCD patients," Gaston said
Using this type of large-scale analysis to determine disease prevalence is a budding approach to scientific discovery
