Cystic Fibrosis Clinical Trial
Official title:
Whole Genome Sequencing of Korean Patients With Idiopathic Bronchiectasis for Identification of Disease-Causing Variants
Whole genome sequencing of Korean patients with idiopathic bronchiectasis and their family will perform to identify disease-causing variants.
Idiopathic bronchiectasis may be a manifestation of genetic diseases such as cystic fibrosis,
primary ciliary dyskinesia, etc. Diagnosis of these rare genetic diseases is crucial not only
because some of the rare diseases developed already effective treatment options, but also the
detection of syndrome enables us to detect other organ damages before the deterioration of
them.
Several diagnostic tools have been developed; however, the genetic panel has limited
screening efficacy due to the genetic heterogeneity of diseases. Even more, especially in
Korea, the incidence of idiopathic bronchiectasis caused by the genetic disease is rare, most
clinics have limited to assess specialized diagnostic tools such as the specialized genetic
panels, sweat chloride test, and the electromagnetic detection tools for ciliary movement.
Whole genome sequencing may be an excellent solution to identify the neglected genetic
diseases causing idiopathic bronchiectasis and explore the heterogeneity of disease-causing
variants in Korean patients.
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