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Small-molecule signal-transduction inhibitors: targeted therapeutic agents for single-gene disorders

Davies, David Mark and Sampson, Julian Roy 2010. Small-molecule signal-transduction inhibitors: targeted therapeutic agents for single-gene disorders. Journal of Medical Genetics 47 (3) , pp. 145-149. 10.1136/jmg.2008.064113

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Mutations affecting over 2000 of the 20 000 or so genes in the human genome have been linked so far to specific inherited diseases, most of which are rare and have been poorly understood. Many of the genes involved encode components of intracellular signalling pathways that regulate processes such as the growth, proliferation, differentiation and survival or programmed death of cells during development and the maintenance of tissues and organs. Mutations that change the function of genes encoding signalling proteins thereby cause disorders ranging from birth defects to cancer. For Mendelian disorders, the essentially causal relationship between mutation and disease may present direct opportunities to therapeutically manipulate intracellular signalling. Here, we review recent examples of the use of small-molecule drugs to target components of signalling networks in single-gene disorders. We also consider the limitations of these “molecularly targeted” approaches and the difficulties in their clinical development as therapies for rare genetic diseases.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
Publisher: BMJ Journals
ISSN: 0022-2593
Last Modified: 09 Nov 2017 21:21

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