Cystic Fibrosis
Cystic fibrosis is a complex genetic disorder that primarily affects the respiratory and digestive systems, understanding the genetic basis and pathophysiology is crucial in developing targeted therapies and personalized interventions. Our company stands out with our dedicated team of experts and cutting-edge technologies that aim to unravel the genetic intricacies of cystic fibrosis, we can help you delve deep into the pathogenesis of cystic fibrosis, and promote personalized therapeutic development.
Introduction to Cystic Fibrosis
Cystic fibrosis is an autosomal recessive disease, which has a notable impact on different ethnic groups, with an incidence rate of approximately 1 in 35,000 in the Asian population. Individuals with cystic fibrosis face a range of symptoms, including chronic obstructive pulmonary disease, sinusitis, malnutrition due to pancreatic insufficiency, liver complications like biliary cirrhosis, and cystic fibrosis related diabetes (CFRD).
Pathogenesis of Cystic Fibrosis
Cystic fibrosis is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7q31.2, leading to the production of defective CFTR protein. This dysfunction disrupts the chloride channels on the cell surface, resulting in thick and sticky mucus in various organs, particularly the lungs and pancreas. The discovery of over 2000 variations or mutations in the CFTR gene has expanded our understanding of cystic fibrosis and its genetic complexity. These mutations can be categorized into six groups: I to VI, each presenting different characteristics and implications for the disease (Fig.1).
Fig.1 Mutations in CFTR account for complex protein expression defects spanning multiple classes. (Jia, S., and Taylor-Cousar, J. L., 2023)Diagnostics Development of Cystic Fibrosis
Diagnostic methods for cystic fibrosis have also evolved, with techniques like polymerase chain reaction (PCR), sanger sequencing, and next-generation sequencing (NGS) being utilized to detect mutations in the CFTR gene. These advanced diagnostic tools enable early and accurate identification of individuals suspected to have cystic fibrosis, crucial for initiating timely interventions and personalized therapeutic plans.
Therapeutics of Cystic Fibrosis
Small Molecule Drugs Therapy
These drugs target specific sites on the CFTR protein to enhance or correct its function. CFTR potentiators like ivacaftor and correctors such as lumacaftor, tezacaftor, and elexacaftor demonstrate the potential to mitigate CFTR protein dysfunction, thereby averting organ damage caused by ion fluid imbalance.
Gene Therapy
CRISPR/Cas9-based gene therapy approaches offer opportunities to correct CFTR gene mutations and potentially restore normal protein function. By employing precise genetic manipulation techniques, researchers aim to develop personalized therapeutics to address the underlying genetic defects in individuals with cystic fibrosis.
Our Services
Our company not only specializes in genetic research and drug development but also provides comprehensive services for research support. From creating animal models to developing therapeutics platforms, we aim to facilitate and advance the progress of cystic fibrosis research and therapy.
Platforms of Cystic Fibrosis Therapy Development
Animal Models of Cystic Fibrosis
Animal models are the basis for understanding the pathogenesis of cystic fibrosis and personalized therapeutic. We can offer the animal model of cystic fibrosis to help researchers better understand the underlying mechanisms of cystic fibrosis and develop new therapies to improve the quality of life for individuals with the disease.
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| Exposure of mice or other animals to the bacteria pseudomonas aeruginosa (PA), which frequently infects the lungs of cystic fibrosis individuals, can induce cystic fibrosis-like symptoms and exacerbate existing cystic fibrosis pathologies. | ||
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| Genetically Engineered Models | ||
| Through genetic engineering methods such as transgenic technology and CRISPR/Cas9, researchers can create models that mimic specific CFTR gene mutations and disease characteristics. | ||
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| Optional Species | Mice, Rats, Others | |
Our company is committed to pioneering research and innovative solutions for cystic fibrosis, which can support your research of this condition, such as pharmacokinetics analysis and drug safety evaluation. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Jia, Shijing, and Jennifer L Taylor-Cousar "Cystic Fibrosis Modulator Therapies." Annual review of medicine 74 (2023): 413–426.
- Dickinson, Kimberly M, and Joseph M Collaco "Cystic Fibrosis." Pediatrics in review 42.2 (2021): 55–67.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.