Monogenic Diseases – A Therapeutic Target for Gene Replacement Therapy

Some diseases are caused by a mutation in a single gene that results in a lack of a particular protein. Such diseases are well suited to treatment with the gene replacement approach. The mutation shown here prevents the gene’s essential product from being coded. The mutant gene is not cut out and replaced in gene replacement therapy, as it does not need to be. Instead, a normal functional copy of the gene is inserted—this corrects the lack of activity of the mutant gene, resulting in the missing protein being produced.



  • Wang D, Gao G. Discov Med 2014;18(98):151–161.