Fanconi Anemia (FA)
Fanconi anemia (FA) is a rare autosomal recessive genetic disorder. Our company is committed to developing cutting-edge diagnostics and therapeutics for the management of Fanconi anemia. As your reliable partner in Fanconi anemia research, we offer streamlined and comprehensive solutions to meet all your scientific research requirements.
Introduction to Fanconi Anemia
Fanconi anemia (FA) is a rare inherited condition that affects the bone marrow and various parts of the body. It is a complex disorder that not only impacts blood cell production but also gives rise to physical abnormalities and an increased risk of certain cancers. Fanconi anemia affects approximately 1 out of every 130,000 live births.
Fig. 1 The schematic elucidation of the FA pathway mechanism used during DNA repair. (Fang, Can-Bin, et al., 2020)Pathogenesis of Fanconi Anemia
The pathogenesis of Fanconi anemia involves a complex interplay of genetic mutations, dysfunctional proteins, and DNA damage response pathways.
- Genetic Mutations
Fanconi anemia is primarily caused by mutations in the FA gene, which causes the protein responsible for DNA repair to malfunction, leading to the accumulation of DNA damage.
- DNA Repair Deficiency
Impaired FA protein function impairs intracellular DNA repair mechanisms, leading to ongoing DNA damage and genomic instability.
- DNA Damage Response Pathways
Fanconi anemia also affects key DNA damage response pathways, which are responsible for sensing and repairing DNA damage. This pathway is disrupted, making cells more susceptible to DNA damage.
Types of Fanconi Anemia Therapy
Gene Therapy
Gene therapy involves introducing functional copies of the mutated FA gene into cells to restore their normal function. For example, lentiviral vectors carrying functional FA genes can effectively deliver the corrected gene into patient cells, restoring their ability to repair DNA damage.
Small Molecule Therapies
Small molecule drugs can target specific cellular pathways or proteins involved in the pathogenesis of Fanconi anemia. For example, compounds that enhance DNA repair or modulate the FA pathway are being studied to increase the repair capacity of cells.
Stem Cell Transplantation
Hematopoietic stem cell transplantation (HSCT) is an established therapy for Fanconi anemia. HSCT involves replacing defective bone marrow with healthy donor stem cells, which can restore normal blood cell production and improve symptoms of FA individuals.
Our Services
Our company leads the way in rare disease research and therapeutic development. Our experienced team of scientists and researchers is committed to unraveling the intricacies of Fanconi anemia and other rare diseases through the creation of advanced research platforms.
Research Platforms of Fanconi Anemia
Utilizing cutting-edge technology, our goal is to strategize and develop diagnostics for Fanconi anemia to promote early identification and accurate diagnosis of the disease. With the establishment of Fanconi anemia animal models and comprehensive investigations into disease mechanisms and targets, we possess the capacity to develop therapeutic drugs for Fanconi anemia, thereby facilitating safety evaluation and pharmacokinetic studies of drug candidates.
Animal Models of Fanconi Anemia
| Induced Models | ||
| Chemical induction involves exposing animals to genotoxic agents that induce DNA damage, replicating the genomic instability observed in Fanconi anemia (FA). Chemicals such as mitomycin C or diepoxybutane have been used to induce DNA cross-linking and chromosomal aberrations, which are characteristic of FA. This approach allows researchers to study the effects of DNA damage on disease progression and evaluate potential interventions. | ||
| Genetically Engineered Models | ||
| Genetic engineering techniques, such as gene targeting and transgenics, are often used to develop animal models of Fanconi anemia (FA). Gene targeting involves introducing FA-specific mutations into an animal's DNA sequence via homologous recombination or CRISPR-Cas9-mediated gene editing. Transgenic technology allows FA-related genes to be inserted into the genome of animals. These models provide valuable tools for studying the genetic properties of FA and evaluating potential therapeutic strategies. | ||
| Optional Models |
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| Optional Species | Mice, Zebrafish, Non-Human Primates (Baboons and Monkeys), Others | |
Regardless of your current research stage, we offer comprehensive research services tailored to your needs. If you are interested in our services, please don't hesitate to contact us for more information and a detailed quotation regarding the specific services you require.
References
- Fang, Can-Bin, et al. "Fanconi anemia pathway: mechanisms of breast cancer predisposition development and potential therapeutic targets." Frontiers in cell and developmental biology 8 (2020): 160.
- Peake, Jasmine D., and Eishi Noguchi. "Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair." Human Genetics 141.12 (2022): 1811-1836.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.