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The potential for replacing a mutant gene in cells that are most severely affected and thereby causing a disease has long been desired. An alternative is inserting a normal copy of the defective gene in an organ that can produce the defective protein. After considerable research in animals, recent success in humans has shown promise in a few, serious genetic diseases. For example, an adeno-associated virus containing a normal copy of clotting factor IX was inserted into the liver of patients with hemophilia B and largely eliminated the need for intravenous infusions of the missing factor. In a different approach, a normal copy of a mutant gene that causes retinal dystrophy was injected into the retina of a patient resulting in restored vision. Numerous preclinical and clinical trials for other genetic disorders are underway.

Amato  A  et al. Gene therapy in inherited retinal diseases: an update on current state of the art. Front Med (Lausanne). 2021;8:750586.
[PubMed: 34722588]  
Collins  FS  et al. The next phase of human gene-therapy oversight. N Engl J Med. 2018;379:1393.
[PubMed: 30110242]  

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