New Therapeutic Approaches to Mendelian Disorders

Abstract

Progress in the treatment of genetic disorders has derived from insight into their causes and has focused on nutritional limitation of a substrate, the purging of a toxic metabolite, or compensatory expression of a protein whose deficiency causes disease, through gene delivery. In this review, I focus on therapeutic strategies that exploit a precise understanding of the pathogenesis of a mendelian disease, giving examples that illustrate the strengths and limitations of each approach, as well as the potential for broadening its application to the treatment of more common disorders.