A rare respiratory disease is more common than previously thought, according to new research led by Indiana University School of Medicine professor Dr. Benjamin Gaston.
Data analysis by a team of medical professionals across the country indicates primary ciliary dyskinesia, or PCD, is twice as common as previous estimates, occurring in one of about every 7,500 people.
A genetic condition, it affects a protective function of the respiratory system and can lead to chronic health issues, including chronic, daily coughing and congestion, recurring respiratory and ear infections and severe lung damage.
Recently published in The Lancet Respiratory Medicine journal, the analysis screened the genetic sequences of 180,000 unique people for disease-causing variants of 29 genes that are linked to autosomal recessive PCD.
“This is very important for clinicians. Since PCD has been thought of as a rare disease, they might not recognize it when they see a patient with PCD symptoms,” Gaston said in a press release. “They may think, ‘Well, it’s unlikely because it’s such a rare disease.’ But actually, it’s not anywhere near as rare as we thought.”
The analysis also found that people of African descent had a higher rate of PCD-causing variants than other populations, followed by non-Finnish European groups and people of Hispanic descent.
IU said that using this type of large-scale analysis to determine disease prevalence is a budding approach in scientific discovery. But it’s not the first time that Gaston “worked backwards,” the university said, applying discoveries from his lab to large quantities of genetic data.
Last year, a group of researchers led by Gaston published research showing that people who are clinically lacking androgen effects are three to four times more likely to have asthma than people in the general population. Their “big data” analysis of over 90 million people supports previous work in mice showing that loss of the androgen receptor increases asthma risk.