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Foundation Sciences · Genetics
Gene Therapy and CRISPR
Gene therapy delivers genetic material to treat disease; recent advances include viral vector therapies and CRISPR/Cas9 genome editing.
📌 Learning Objectives
- Describe the underlying mechanism of Gene Therapy and CRISPR.
- Identify the key clinical features and complications of Gene Therapy and CRISPR.
- Outline the appropriate investigations and management of Gene Therapy and CRISPR.
- Discuss the implications for patients and families of Gene Therapy and CRISPR.
📋 Overview
Approved gene therapies include onasemnogene abeparvovec for SMA, voretigene neparvovec for RPE65-related retinal dystrophy and CAR-T cells for haematological malignancies. CRISPR-based therapies (e.g. exa-cel for sickle cell) are emerging.
🔬 Basic Science
Approved gene therapies include onasemnogene abeparvovec for SMA, voretigene neparvovec for RPE65-related retinal dystrophy and CAR-T cells for haematological malignancies. CRISPR-based therapies (e.g. exa-cel for sickle cell) are emerging.
🏥 Clinical Relevance
Adeno-associated viral (AAV) vectors are commonly used for in vivo gene therapy.
🧪 Investigations
Investigation depends on clinical context: relevant blood tests, imaging, and specific genetic or histopathological tests as appropriate. Refer to specialist services where indicated.
💊 Management
Management is condition-specific and typically multidisciplinary, combining medical therapy, surgical intervention where appropriate, supportive care, and family/genetic counselling.
Revision Resources – expand the sections below for high-yield notes, exam pearls, key facts and further reading.
MLA High-Yield Notes & Quick Revision ⌄
Common SBA themes: recognising the underlying mechanism, identifying classic clinical features, and choosing the first-line investigation or management step. Watch for inheritance pattern and characteristic associations.
gene therapy
crispr
car-t
aav
exa-cel
- Onasemnogene abeparvovec is an AAV-based gene therapy for spinal muscular atrophy.
- Voretigene neparvovec is approved for RPE65-related inherited retinal dystrophy.
- CAR-T cells genetically modify patient T cells to target cancer antigens.
- CRISPR/Cas9 enables precise genome editing in somatic cells.
- Germline editing remains illegal in most jurisdictions, including the UK.
Exam Pearls ⌄
⭐ High Yield
Onasemnogene abeparvovec is an AAV-based gene therapy for spinal muscular atrophy.
Voretigene neparvovec is approved for RPE65-related inherited retinal dystrophy.
CAR-T cells genetically modify patient T cells to target cancer antigens.
CRISPR/Cas9 enables precise genome editing in somatic cells.
Germline editing remains illegal in most jurisdictions, including the UK.
💡 Clinical Pearl
Gene Therapy: Adeno-associated viral (AAV) vectors are commonly used for in vivo gene therapy.
⚠️ Exam Tip — Common Mistakes
Confusing the mechanism of Gene Therapy and CRISPR with related conditions.
Missing classic clinical features of Gene Therapy and CRISPR in SBA stems.
Failing to consider Gene Therapy and CRISPR in the differential diagnosis.
Key Facts ⌄
Onasemnogene abeparvovec is an AAV-based gene therapy for spinal muscular atrophy.
Voretigene neparvovec is approved for RPE65-related inherited retinal dystrophy.
CAR-T cells genetically modify patient T cells to target cancer antigens.
CRISPR/Cas9 enables precise genome editing in somatic cells.
Germline editing remains illegal in most jurisdictions, including the UK.
Related Topics ⌄
References ⌄
- GMC MLA Content Map
- NICE Clinical Knowledge Summaries
- BMJ Best Practice
Further Resources
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