Modifying genetic diseases: Promises to be realized?

[摘要] In some genetic disorders, there is a total absence of a protein: the absence of adenosine deaminase (ADA) in severe combined immunodeficiency, enzyme deficiency in some lysosomal storage diseases, protein deficiency in several coagulopathies, and lack of uricase in humans, leading to hyperuricemia and gout. In other disorders, the genome dictates the translation of defective proteins or proteins that interfere with normal functioning of the wild-type protein, such as in sickle cell disease.

[学科分类] 卫生学