Podcast
Questions and Answers
What is the function of nuclease defective Cas9 in genome editing?
What is the function of nuclease defective Cas9 in genome editing?
- To create double-strand breaks in DNA
- To facilitate RNA interference
- To perform epigenetic modifications (correct)
- To enhance gene expression directly
What is a common consequence of unintended mutational effects in genome editing?
What is a common consequence of unintended mutational effects in genome editing?
- Targeted gene amplification
- Deletion of functional RNA sequences
- Increased fidelity in DNA repair
- Alterations to off-target genes (correct)
Which repair mechanism is associated with gene knockouts through CRISPR/Cas?
Which repair mechanism is associated with gene knockouts through CRISPR/Cas?
- Transcriptional recombination
- Homology-directed repair
- Single-strand annealing
- Non-homologous end joining (correct)
What is a potential result of HDR when using a template in genome editing?
What is a potential result of HDR when using a template in genome editing?
Which phenomenon describes chromosome shattering and random rejoining during genome editing?
Which phenomenon describes chromosome shattering and random rejoining during genome editing?
Which application of CRISPR/Cas is involved in creating large DNA deletions?
Which application of CRISPR/Cas is involved in creating large DNA deletions?
What could be an unintended consequence when using a plasmid repair template in gene editing?
What could be an unintended consequence when using a plasmid repair template in gene editing?
What type of fusion is employed in base editing with gRNA/Cas?
What type of fusion is employed in base editing with gRNA/Cas?
What are the primary delivery methods for viral vector gene therapy?
What are the primary delivery methods for viral vector gene therapy?
What is a key factor in the effective application of vector selection in gene therapy?
What is a key factor in the effective application of vector selection in gene therapy?
What recent gene editing technique is highlighted for its use in clinical trials?
What recent gene editing technique is highlighted for its use in clinical trials?
Which aspect of gene therapy does the module suggest needs critical evaluation?
Which aspect of gene therapy does the module suggest needs critical evaluation?
What is the most comprehensive description of gene therapy based on the provided content?
What is the most comprehensive description of gene therapy based on the provided content?
How diverse are the conditions currently targeted by gene therapy based on the content?
How diverse are the conditions currently targeted by gene therapy based on the content?
What is the purpose of the FIX Padua (FIX-R338L) transgene in the AAV vector?
What is the purpose of the FIX Padua (FIX-R338L) transgene in the AAV vector?
What was the observed range of FIX coagulant activity after vector administration?
What was the observed range of FIX coagulant activity after vector administration?
How many participants did not experience any bleeding after vector administration?
How many participants did not experience any bleeding after vector administration?
What is the cost of Hemgenix (etranacogene dezaparvovec) as reported?
What is the cost of Hemgenix (etranacogene dezaparvovec) as reported?
What is the date of FDA approval for Hemgenix?
What is the date of FDA approval for Hemgenix?
What was the total number of participants in the study mentioned?
What was the total number of participants in the study mentioned?
Which of the following gene therapies was approved most recently?
Which of the following gene therapies was approved most recently?
What proportion of participants used factor after vector administration?
What proportion of participants used factor after vector administration?
What was the primary outcome of the gene therapy for Junctional epidermolysis bullosa (JEB) after one year?
What was the primary outcome of the gene therapy for Junctional epidermolysis bullosa (JEB) after one year?
Which component was used in the retroviral vector for the gene therapy process?
Which component was used in the retroviral vector for the gene therapy process?
What does the 'pA' represent in the structure of the retroviral vector diagram?
What does the 'pA' represent in the structure of the retroviral vector diagram?
In sickle cell disease, which specific mutation occurs in the beta-globin gene?
In sickle cell disease, which specific mutation occurs in the beta-globin gene?
What is a characteristic of beta-thalassemia?
What is a characteristic of beta-thalassemia?
What significant approval was noted as a recent breakthrough in gene therapy?
What significant approval was noted as a recent breakthrough in gene therapy?
Which of the following therapies is commonly used for managing haemoglobinopathies?
Which of the following therapies is commonly used for managing haemoglobinopathies?
What area was biopsied to obtain epidermal stem cells for ex vivo gene therapy?
What area was biopsied to obtain epidermal stem cells for ex vivo gene therapy?
What condition does the retroviral vector encoding adenosine deaminase (ADA) specifically target?
What condition does the retroviral vector encoding adenosine deaminase (ADA) specifically target?
What is the primary function of the TREC levels measured in CD3+ cells?
What is the primary function of the TREC levels measured in CD3+ cells?
Which gene is implicated in Junctional epidermolysis bullosa (JEB) due to its deficiency?
Which gene is implicated in Junctional epidermolysis bullosa (JEB) due to its deficiency?
What is a known limitation of the ex vivo bone marrow stem cell correction method for ADA-SCID?
What is a known limitation of the ex vivo bone marrow stem cell correction method for ADA-SCID?
What age group is primarily affected in the patient case study of Junctional epidermolysis bullosa (JEB)?
What age group is primarily affected in the patient case study of Junctional epidermolysis bullosa (JEB)?
What aspect of the treatment for JEB is highlighted in the research conducted by Maviolio et al.?
What aspect of the treatment for JEB is highlighted in the research conducted by Maviolio et al.?
Which cell type was NOT mentioned in the absolute counts related to PB cells?
Which cell type was NOT mentioned in the absolute counts related to PB cells?
What is the scale for TREC numbers in age-matched controls?
What is the scale for TREC numbers in age-matched controls?
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Study Notes
Gene Therapy Overview
- Gene therapy utilizes recombinant genetic material (DNA, RNA, hybrid molecules) as a therapeutic agent.
- Aims to address inherited single gene disorders through various delivery methods, including in vivo and ex vivo.
Aims and Objectives
- Understanding the delivery methods of viral vector gene therapy.
- Knowing principles behind vector selection and design tailored to specific diseases.
- Evaluating outcomes from CRISPR/Cas gene editing applications in clinical trials.
- Recognizing a diverse range of conditions targeted by gene therapy in research.
Genome Editing Techniques
- CRISPR/Cas Genome Editing: Uses site-directed nucleases (SDNs) for gene knock-out or modification.
- Double-strand breaks repaired through non-homologous end joining (NHEJ) or homologous recombination (HDR).
- Base Editing: Nuclease-defective Cas9 combined with gRNA to induce specific nucleotide changes.
Off-target Effects of Gene Editing
- Off-target mutations involve unintended alterations in genes other than the target.
- On-target effects can lead to significant consequences, including large deletions, chromosomal rearrangements, and abnormal mRNA/protein production.
Case Studies in Gene Therapy
- Junctional Epidermolysis Bullosa (JEB): Gene therapy using retroviral vectors to correct laminin 5 deficiencies, focusing on epidermal stem cells resulting in successful skin regeneration.
- Dystrophic Epidermolysis Bullosa: First topical gene therapy, Vyjuvek, has received FDA approval for treatment.
Hemoglobin Disorders Treatment
- Thalassemia: Characterized by globin chain imbalances; treated with transfusions and gene therapy using AAV vectors.
- Sickle Cell Disease: Managed via gene therapies that correct the genetic mutation at codon 6.
- FDA Approval of Hemgenix: First gene therapy for adults with Hemophilia B, markedly improving factor FIX activity.
Approved Gene Therapies
- Multiple gene therapy products have received approval, with significant costs associated.
- Notable examples:
- Zynteglo for β-thalassemia.
- Zolgensma for spinal muscular atrophy (SMA).
- Skysona for CALD and Hemgenix for Hemophilia B—the latter reported cost approximately $3.5 million.
Historical Context
- The field of gene therapy has evolved significantly, with clinical trials beginning in 1989 and progressing through various phases leading to therapies that are now commercially available.
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