基因治疗英文版完整课件.ppt

* * The guide RNA (gRNA) is fused with the DNA sequence targeting the host gene of interest. The gRNA recognizes specific regions on the host RNA and complexes with Cas9, which recognizes the protospacer adjacent motif (PAM) on the target and exerts its endonuclease function to cause double stranded breaks (DSBs). This triggers two mechanisms for repair: one is non-homologous end-joining (NHEJ), which introduces mutations in the DSB site. The other mechanism is homologous recombination (HR) which enables the donor DNA information to be inserted at the break site. * * Graduate program * Several inherited immune deficiencies have been treated successfully with gene therapy. Most commonly, blood stem cells are removed from patients, and retroviruses are used to deliver working copies of the defective genes. After the genes have been delivered, the stem cells are returned to the patient. Because the cells are treated outside the patients body, the virus will infect and transfer the gene to only the desired target cells. * Graduate program * Gene therapies are being developed to treat several different types of inherited blindness—especially degenerative forms, where patients gradually lose the light-sensing cells in their eyes. Encouraging results from animal models (especially mouse, rat, and dog) show that gene therapy has the potential to slow or even reverse vision loss. * Graduate program * * Graduate program * People with hemophilia are missing proteins that help their blood form clots. Those with the most-severe forms of the disease can lose large amounts of blood through internal bleeding or even a minor cut. In a small trial, researchers successfully used an adeno-associated viral vector to deliver a gene for Factor IX, the missing clotting protein, to liver cells. After treatment, most of the patients made at least some Factor IX, and they had fewer bleeding incidents. Excellent model for gene therapy approaches Single gene defect (deficiency of FIX gene)