The question posed in this chapter—namely, “Can we cure genetic disorders?”—is straightforward. The answer is anything but simple, the best answer, in fact, being “Yes, no, and maybe.” If cure is defined as dictionaries define it, (that is, “to restore health,” or “to treat successfully,” or “to succeed with a course of medical treatment”), then current approaches to some genetic disorders qualify. For instance, lifelong restriction of dietary phenylalanine in a neonate with classical phenylketonuria is likely “to restore health” and “to succeed with a course of medical treatment.” Treatment of Wilson’s disease with D-penicillamine and of congenital adrenal hyperplasia with adrenal steroid hormones and of diabetes mellitus with insulin are other examples of successful medical treatments of genetic disorders. But I contend that we ordinarily reserve the word cure for those situations in which the cause of the disorder is eliminated and treatment can be discontinued without relapse (as in the cure of pneumococcal pneumonia with penicillin or of appendicitis by appendectomy). Given this more restrictive definition, the only genetic disorders that we currently cure are those that can be managed surgically (e.g., the correction of cleft palate, the repair of a congenital heart defect, or colectomy for familial polyposis of the colon). Even in these instances, the primary cause of the disorder (i.e., the genetic factors or mutations) has not been addressed. In truth, if we use elimination of the mutant gene as the criterion defining the cure of any genetic disorder, we will never cure any of them because new mutations are occurring all the time, and because I cannot foresee being able to replace defective genes by normal ones in all cells of an affected patient— regardless of how sophisticated we become in our ability to understand and manipulate DNA.
KeywordsGene Therapy Osteogenesis Imperfecta Fabry Disease Congenital Adrenal Hyperplasia Chronic Granulomatous Disease
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