Cystic Fibrosis
Cystic fibrosis is a multifaceted genetic disorder which mainly affects the respiratory and digestive systems and is characterized by abnormal perspiration. Knowing the genetic factors and the disease's pathophysiology processes is key for developing therapies and interventions. Our company boasts a top-notch team and cutting-edge technology to help pinpoint the specific genetic factors of cystic fibrosis and help you understand more of the pathogenesis of cystic fibrosis and assist in the development of specific therapies.
Introduction to Cystic Fibrosis
Cystic fibrosis is an example of an autosomal recessive disorder that shows significant variation among different ethnic populations such as Asians where the rate of occurrence is roughly 1 in every 35,000. The symptoms of cystic fibrosis are extensive and includes chronic obstructive pulmonary disease, sinusitis, malnutrition from pancreatic insufficiency, liver disease such as biliary cirrhosis, and diabetes mellitus type 2 (CFRD).
Pathogenesis of Cystic Fibrosis
Cystic fibrosis originates from a mutation in the CFTR gene located in chromosome 7q31.2 which is associated with the production of CFTR protein. This interference faulty CFTR protein causes the disruption of chloride channels on the cell's apical surface, which leads to the secretion of thick and sticky mucus in many organs such as the lungs and pancreas. Having discovered more than 2000 single variations, or mutations, in the CFTR gene greatly enhanced the understanding of cystic fibrosis and its genetic nature. Each mutation is placed into one of 6 categories I through VI: each assuming different aspects of 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
Cystic fibrosis's diagnostic measures are also improving, with the use of bone marrow polymerase chain reaction (PCR), sanger sequencing, and next-generation sequencing (NGS) for the detection of presumptive mutations within the CFTR gene. These modern diagnostic tools allow an precise and early suspicion of patients suffering from cystic fibrosis and foremost engage the affected individuals, as well as devise suitable solutions for intervention.
Therapeutics of Cystic Fibrosis
Small Molecule Drugs Therapy
They employ drugs that act on an ion channel known as CFTR, with the aim of making it work better or fixing it altogether. Ion channels potentiators such as ivacaftor, as well as reverses such as lumacaftor, tezacaftor, and elexacaftor are CFTR protein dysfunction mitigators that promise to limit organ damage that may arise from ion fluid imbalance by suturing the damaged CFTR protein.
Gene Therapy
Gene editing approaches so far have permitted the alteration of CFTR gene mutations, thereby making it possible to produce a protein, which is functional. Researchers seek to create cures for people suffering from cystic fibrosis by genetically altering the affected individuals, which would allow the underlying genetic problems that cause cystic fibrosis to be treated.
Our Services
The scope of our work covers not only genetic studies and drug design, but also includes full service support for thesis research. From the construction of animal models to the creation of therapeutics platforms, we strive to contribute to the progress of research and therapy of cystic fibrosis.
Platforms of Cystic Fibrosis Therapy Development
Animal Models of Cystic Fibrosis
These animal models are constructed to better understand the pathogenesis of cystic fibrosis. To assist researchers in understanding the mechanisms of cystic fibrosis and developing novel treatments to improve the quality of life of patients, we are offering a cystic fibrosis animal model.
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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, researchers can create models that mimic specific CFTR gene mutations and disease characteristics. | ||
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| Optional Species | Mice, Rats, Others | |
We focus on highly specialized research and innovative technologies aimed at the further understanding and treatment of cystic fibrosis, such as investigating pharmacokinetics 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.