Gene augmentation therapy (GAT) is used to:
Gene augmentation alias addition therapy provides supplemental functional copy gene compensating recessive loss-of-function mutation where endogenous loci produce truncated or misfolded protein rapidly degraded proteasome or nonsense-mediated decay. Delivered cDNA lacks introns and native regulatory elements codon-optimized enhancing translation and CpG depleted reducing TLR9 activation expressed under heterologous constitutive promoter chicken beta-actin with CMV enhancer or tissue-specific transthyretin promoter driving strong transcription independent defective locus that remains present bu
Ref: NIH Gene Augmentation Therapy Strategy; Watson Molecular Biology Gene Augmentation Chap 15; NCBI Bookshelf Gene Addition https://www.ncbi.nlm.nih.gov/books/NBK21981/.
