Analysis reveals rare disease is more common than previously thought


Date:
January 24, 2022
Source:
Indiana University School of Medicine
Summary:
A large data analysis shows a rare respiratory disease called
primary ciliary dyskinesia (PCD) is more common than previously
thought.



FULL STORY ==========================================================================
A large data analysis led by Indiana University School of Medicine
Professor Benjamin Gaston, MD, shows a rare respiratory disease called
primary ciliary dyskinesia(PCD) is more common than previously thought.


========================================================================== Recently published inThe Lancet Respiratory Medicine, the analysis
aimed to gauge the global prevalence and genetic variance of PCD, a
genetic condition that affects a protective function of the respiratory
system. PCD can lead to chronic health issues, including chronic, daily coughing and congestion, recurring respiratory and ear infections and
severe lung damage.

Using information from two databases, the group screened the genetic
sequences of 180,000 unique people for disease-causing variants of 29
genes that are linked to autosomal recessive PCD. While PCD was previously estimated to occur in only about 1 in 16,000 people, Gaston's analysis
showed that it's over twice as common at about 1 in 7,500.

"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," said Gaston, who is also the Vice Chair of Translational Research in the Department of Pediatrics. "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." Scientists also looked
at disease prevalence among seven ethnic groups, a factor for which
previous data were limited. They found that people of African descent
had a higher rate of PCD-causing variants than in other populations,
followed by non-Finnish European groups and people of Hispanic descent.

Importantly, the data showed that, of the 29 genes studied, the 5 most
common genes with PCD-causing variants were different in different
ethnic populations.

Collectively, these data can help doctors better recognize and diagnose
PCD in patients, especially in certain parts of the world or when treating patients from diverse backgrounds.

"My hope is that clinicians will have a much lower threshold for
evaluating people who might have PCD," said Gaston.

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," applying discoveries from his lab
to large quantities of genetic data. Gaston said he hopes investigators continue identifying new genes that are associated with PCD -- including
the ones that this study omitted because of their unknown significance --
to continue improving the diagnosis and care of people who have PCD.

For this study, the group used a California-based genetics laboratory,
Invitae, and an international sequence database called Genome Aggregation Database (gnomAD). Contributing authors in this study include first-author William B.

Hannah, MD, from the University of North Carolina; Duke University School
of Medicine's Bryce A. Seifert,PhD; Rebecca Truty, PhD, and Keith Nykamp,
PhD of Invitae; Maimoona Zariwala, PhD from the Marisico Lung Institute, University of North Carolina; University of Utah's Kristen Ameel, MD;
and IU School of Medicine's Yi Zhao, PhD.

========================================================================== Story Source: Materials provided by
Indiana_University_School_of_Medicine. Note: Content may be edited for
style and length.


========================================================================== Journal Reference:
1. William B Hannah, Bryce A Seifert, Rebecca Truty, Maimoona
A Zariwala,
Kristen Ameel, Yi Zhao, Keith Nykamp, Benjamin Gaston. The global
prevalence and ethnic heterogeneity of primary ciliary dyskinesia
gene variants: a genetic database analysis. The Lancet Respiratory
Medicine, 2022; DOI: 10.1016/S2213-2600(21)00453-7 ==========================================================================

Link to news story: https://www.sciencedaily.com/releases/2022/01/220124115037.htm

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