HMB265H1 Lecture Notes - Lecture 23: Visual Impairment, Viral Vector, Genetic Engineering

• School: UTSG
• Department: Human Biology
• Course: HMB265H1
• Professor: Maria Papaconstantinou

Document Summary

Ch 2: 22-23; 43: ch 19: 646. Somatic gene therapy: gene therapy challenges, leber congenital amaurosis. They target somatic cells, and are thus non-heritable. Genetic engineering of these cells, not to the germ cells. Targeting the tissues that are affected and only those cells. Basic idea: it is ex vivo --> remove the cells, modify the dna, and reimplant them in vivo. This allows a very targeting kind of therapy. First proposed for the adenosine deaminase (ada) decades before tried. This is an immunodeficiency disease that is hard to treat. Mutation in a single gene causing the disease. Results in severely lethal condition, affects wbc, and is autosomal. Wbc are easy to obtain, adjust, and reimplant. Good target bc even recovery of a small amount of ada would restore partial function. Involved normally in the cell via this pathway. Mutation here causes buildup of toxic, phosphorylated form that affects cells of immune.