W3-2 Clinical Applications of Genome Editing Technology

• Dr. Zahi Damuni is a professor of Biochemistry with expertise in genome editing technology.
• The text covers learning objectives, guiding questions, and therapies related to enzyme replacement therapy (ERT), gene therapy, gene editing, and their applications in clinical medicine.
• ERT involves infusing missing or defective proteins into patients routinely. Conditions such as hemophilia A, B, and various metabolic diseases benefit from ERT.
• Gene therapy aims to insert a functional copy of a defective gene into the cells of a patient, treating diseases like sickle cell, muscular dystrophy, and cancer.
• Gene editing uses techniques like CRISPR/Cas9 to modify or replace specific genes, with applications in biomedical research and medicine.
• Hemophilia A and B have seen recent advances in treatment through gene therapy using viral vectors like AAV5–Factor VIII Gene Transfer and AAVS3 Gene Therapy.
• Sickle Cell Gene Therapy is an emerging treatment where a patient's own cells are modified and reintroduced into their body.
• Enzyme replacement therapy, gene therapy, and gene editing are distinguished by their mechanisms and therapeutic approaches.
• Viral vectors used in gene therapy may integrate randomly into the genome or only transiently infect cells, causing challenges in delivering effective treatments.
• CRISPR/Cas9 is the most commonly used gene editing system due to its high precision and efficiency.
• Gene therapy using virus vectors has faced challenges like random integration, transient infection, cytotoxicity, and limited application to certain cells.
• CRISPR/Cas9 uses a small guide RNA to target a specific sequence in DNA and induce a double-stranded break, allowing for precise modifications.
• The text also discusses the importance of the protospacer adjacent motif (PAM) in the CRISPR/Cas9 system and how it aids in DNA cleavage.
• ERT, gene therapy, and gene editing have their unique advantages and limitations, and their clinical applications continue to evolve in treating various diseases.
• Haemophilia A and B have seen significant advancements in treatment through gene therapy using viral vectors like AAV5–Factor VIII Gene Transfer and AAVS3 Gene Therapy.
• Sickle Cell Gene Therapy is an emerging treatment where a patient's own cells are modified and reintroduced into their body.
• Enzyme replacement therapy, gene therapy, and gene editing are distinguished by their mechanisms and therapeutic approaches.
• Viral vectors used in gene therapy may integrate randomly into the genome or only transiently infect cells, causing challenges in delivering effective treatments.
• CRISPR/Cas9 is the most commonly used gene editing system due to its high precision and efficiency.
• Gene therapy using virus vectors has faced challenges like random integration, transient infection, cytotoxicity, and limited application to certain cells.
• CRISPR/Cas9 uses a small guide RNA to target a specific sequence in DNA and induce a double-stranded break, allowing for precise modifications.
• The text also discusses the importance of the protospacer adjacent motif (PAM) in the CRISPR/Cas9 system and how it aids in DNA cleavage.
• ERT, gene therapy, and gene editing have their unique advantages and limitations, and their clinical applications continue to evolve in treating various diseases.
• CRISPR/Cas9 is a powerful tool for genome editing, with applications in both research and medicine.
• Gene editing methods like CRISPR/Cas9 require endonucleases to cut the genome, which then triggers the cell's repair mechanisms.
• Precise genome editing using CRISPR/Cas9 involves injecting the DNA endonuclease into a cell and using the cell's own repair systems to incorporate the desired modifications.
• Non-homologous end joining and homologous repair are the primary pathways for DNA repair in response to double-strand breaks induced by CRISPR/Cas9.
• CRISPR/Cas9 relies on a protospacer adjacent motif (PAM) to recognize and target specific sequences in the genome.
• sgRNA is a small RNA molecule used in the CRISPR/Cas9 system to guide the Cas9 enzyme to the target sequence in the genome.
• CRISPR/Cas9 uses the cell's recombination systems to incorporate the desired modifications into the genome, making it a highly versatile and efficient gene editing tool.

Test your knowledge of genome editing technology and its clinical applications with this quiz. Learn about enzyme replacement therapy, gene therapy, CRISPR/Cas9 system, and its critical components.