Genetic Diseases and Gene Therapy Approaches 2020 Monogenic

Genetic Diseases and Gene Therapy Approaches 2020

Monogenic and Complex Diseases Gene therapy is a promising approach for both monogenic and complex diseases 1 Monogenic Diseases • Monogenic diseases are genetic disorders caused by modifications in a single gene occurring in all cells of the body 1 • Examples include spinal muscular atrophy and inherited retinal disease 2 1. Wang D, Gau G. Discov Med 2014; 18: 151– 161; 2. Ginn SL, et al. J Gene Med 2018; 20(5): e 3015. Complex Diseases • Other diseases have more complex roots, involving multiple genetic abnormalities in conjunction with other factors 1 • Examples include cancer and heart failure 1

Treatment Strategies for Monogenic Diseases Different strategies are being utilised for the treatment of monogenic diseases. These include gene-based approaches as well as protein- and substrate-based therapies 1, 2 Nucleus DNA-based 1 DNA Transcription RNA Splicing RNA-based 1 m. RNA Export Cytoplasm Substrate m. RNA Translation Enzyme Amino acid chain Protein-based / protein-directed 1, 2 1. Nature Education. Gene-based therapeutic approaches. Available at: https: //www. nature. com/scitable/topicpage/gene-basedtherapeutic-approaches-3881. Accessed 15 November 2018; 2. Gambello MJ, Li H. J Genet Genomics 2018; 45(2): 61– 70. Folding Protein Substrate-based 2