Fanconi Anemia FANCC Gene Editing
The CRISPR/Cas9 gene-editing system has been used to repair the FANCC gene in human fibroblasts from a Fanconi Anemia patient. Fanconi Anemia is a hereditary disorder in which a DNA point mutation renders the FANCC gene nonfunctional. Loss of FANCC causes patient skeletal abnormalities and leads to bone marrow failure. Fanconi Anemia patients also have much higher rates of hematological diseases, such as leukemia.
Gene Modification Potential
Predictive software analysis and a genome-wide screening process showed no off-target activity with the CRISPR/Cas9 modification, illustrating this system’s potential for highly specific gene modifications. Other genome modification techniques using viral or non-viral vectors to insert copies of a target gene are risky because they increase the likelihood of insertional mutagenesis.
The CRISPR/Cas9 system is preferable over other gene modification systems, because in addition to being more precise, it uses accessible materials. Other methods require specialized starting materials, have more complex methodologies, or aren’t highly specific like the CRISPR/Cas9 system. Utilizing genome-modifying proteins, such as the CRISPR/Cas9 system, have the potential to allow safer, more precise gene modification. The next step in this process is to expand the clinical exploration and utility of this technology.
BENEFITS AND FEATURES OF DNA REPAIR USING CRISPR/CAS9 SYSTEM:
- Specific modification decreases risk of insertional mutagenesis
- First ever repair of the FANCC gene from Fanconi Anemia patients
- Analysis shows no off-target activity with this gene editing system
Phase of Development In vitro assessment, proof of concept in Fanconi Anemia patients’ fibroblast cells.