Current State of Treatment of Genetic Disease

Figure 13-1 The various levels of treatment that are relevant to genetic disease, with the corresponding strategies used at each level. For each level, a disease discussed in the book is given as an example. All the therapies listed are used clinically in many centers, unless indicated otherwise. Hb F, Fetal hemoglobin; mRNA, messenger RNA; PKU, phenylketonuria; RNAi, RNA interference; SCID, severe combined immunodeficiency. See Sources & Acknowledgments.


Figure 13-2 Treatment modalities for inborn errors of metabolism. This figure represents the findings of an analysis of the treatment efficacy of 57 inborn errors of metabolism. The total of the nine different approaches used exceeds 100% because more than one treatment can sometimes be used for a given condition. See Sources & Acknowledgments.

Although powerful advances are being made, the overall treatment of single-gene diseases is presently deficient. A 25-year longitudinal survey of the effectiveness of treatment of 57 inborn errors of metabolism, reflecting the state of the field up to 2008, is shown in Figure 13-3. Note, however, that inborn errors are a group of diseases for which treatment is advanced, in general, compared to most other types of genetic disorders such as those due, for example, to chromosomal abnormalities, imprinting defects, or copy number variation. An encouraging trend over past decades is that treatment is more likely to be successful if the basic biochemical defect is known. In one study, for example, although treatment increased life span in only 15% of all single-gene diseases studied, life span was improved by approximately 50% in the subset of 57 inborn errors in which the cause was known; significant improvements were also observed for other phenotypes, including growth, intelligence, and social adaptation. Thus research to elucidate the genetic and biochemical bases of hereditary disease has a major impact on the clinical outcome.


Figure 13-3 The effect of treatment of 57 genetic diseases in which the affected gene or biochemical function is known and for which sufficient information was available for analysis in 2008. A quantitative phenotype scoring system was used to evaluate the efficacy of the therapies. The fraction of treatable diseases will have increased to a small extent since this 2008 survey because of the increasing success of enzyme replacement and a few other treatments, including gene therapy. See Sources & Acknowledgments.

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Nov 27, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on Current State of Treatment of Genetic Disease

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