Restoring ciliary function: Gene therapeutics for primary ciliary dyskinesia

Nicholas W. Keiser, Erin Cant, Sneha Sitaraman, Amelia Shoemark, Maria P. Limberis (Lead / Corresponding author)

Research output: Contribution to journalReview articlepeer-review

1 Citation (Scopus)

Abstract

Primary ciliary dyskinesia (PCD) is a genetic disease characterized by defects in motile cilia, which play an important role in several organ systems. Lung disease is a hallmark of PCD, given the essential role of cilia in airway surface defense. Diagnosis of PCD is complicated due to its reliance on complex tests that are not utilized by every clinic and also its phenotypic overlap with several other respiratory diseases. Nonetheless, PCD is increasingly being recognized as more common than once thought. The disease is genetically complex, with several genes reported to be associated with PCD. There is no cure for PCD, but gene therapy remains a promising therapeutic strategy. In this review, we provide an overview of the clinical symptoms, diagnosis, genetics, and current treatment regimens for PCD. We also describe PCD model systems and discuss the therapeutic potential of different gene therapeutics for targeting the intended cellular target, the ciliated cells of the airway.

Original languageEnglish
Pages (from-to)821-835
Number of pages15
JournalHuman Gene Therapy
Volume34
Issue number17-18
Early online date25 Aug 2023
DOIs
Publication statusPublished - 19 Sept 2023

Keywords

  • AAV
  • cilia
  • lung
  • gene therapy
  • viral vectors

Fingerprint

Dive into the research topics of 'Restoring ciliary function: Gene therapeutics for primary ciliary dyskinesia'. Together they form a unique fingerprint.

Cite this