Primary Ciliary Dyskinesia Research Services
Protheragen leads in specialized research services for rare diseases. Our goal is to assist researchers in understanding the molecular basis of cilia movement and to improve diagnostic tools while advancing gene therapy development.
What Is Primary Ciliary Dyskinesia?
The rare genetic disease known as Primary Ciliary Dyskinesia (PCD) impacts the movement of cilia in respiratory epithelial cells which leads to impaired clearance of mucus. Individuals with PCD usually show symptoms including frequent respiratory infections together with bronchodilatation along with persistent cough and sinusitis.
Causes of Primary Ciliary Dyskinesia
PCD follows an autosomal recessive inheritance pattern and arises from genetic mutations across multiple genes. Research shows mutations in HYDIN, RSPH9, EPC1, EVI5, and CCDC39 genes may trigger the onset of PCD. These genes encode proteins that determine the structure and function of cilia. Mutations in HYDIN disrupt the central structure formation of the axon and prevent cilia from moving normally.
Treatment of Primary Ciliary Dyskinesia
No cure exists for PCD at this time but multiple treatment methods are under development.
Figure 1. The vicious cycle of primary ciliary dyskinesia lung disease including current treatments with and without evidence and future possibilities for treatments. (Nielsen KG, et al., 2022)Disclaimer: Protheragen specializes in providing preclinical research services. The above is for informational purposes only. For guidance on treatment options, please visit the regular hospital.
Our Services
Pathogenesis Analysis of Primary Ciliary Dyskinesia
The type of pathogenesis analysis we support:
- Genetic factors and mutation analysis
- Analysis of cilia dynamics and cilia ultrastructure
- Analysis of the role of cilia-associated proteins
- Analysis of common mechanisms in cilia-related diseases
We are committed to helping researchers delve deeper into these mechanisms to unravel the pathophysiologic basis of disease and to provide an important basis for the development of targeted therapeutic strategies.
Model Development Services for Primary Ciliary Dyskinesia
In Vitro Models
- Human airway epithelial cell model
- Human ciliary muscle cell model
- Organoid model
In Vivo Models
- Knockout or mutant mouse models, e.g. Ccdc39-/- mice, Dnah5-/- mice, Wdr69-/- mice
- Canine PCD model
- Guinea pig model
Additional Imaging Service
- Micro-optical coherence tomography (μOCT) for assessing pathological features of PCD in mouse models, including changes in ciliary motility and mucus transport.
- High-speed video microscopy (HVMA) for visualizing ciliary muscle movement in humans and animals to help distinguish normal from abnormal ultrastructure.
The above models can be used to mimic the pathological process of PCD by knocking out or mutating specific genes according to your research needs. With these models that we customize for you, you are able to better understand the molecular mechanisms, pathophysiology, and development of potential therapies for PCD.
Gene Therapy Development Services for Primary Ciliary Dyskinesia
Types of gene therapy development we support:
- DNA-based therapy development
- RNA-based therapy development
- TALEN-based therapy development
- Meganuclease-based therapy development
The disease complexity and heterogeneity of PCD, limitations in diagnostic technology, and limited therapeutic options have combined to constrain the development of PCD therapies. Protheragen offers a one-stop gene therapy development service to accelerate your rare disease therapeutic development.
Reference
- Nielsen KG, Holgersen MG, Crowley S, Marthin JK. Chronic airway disease in primary ciliary dyskinesia-spiced with geno-phenotype associations. Am J Med Genet C Semin Med Genet. 2022; 190(1):20-35.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.