Hamdan Medical Journal (previously the Journal of Medical Sciences)

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Suppression of Premature Stop Codons for the Treatment of a Subset of Patients with Genetic Disorders

H Lee Sweeney
Published in : Journal of Medical Sciences ; Vol 2, No 1 (2009)
DOI : 10.2174/1996327000902010001


The concept of personalized medicine has been extended to recognize the fact that variations in the genetic makeup of individuals can greatly alter their responsiveness to drug treatments for a variety of disorders. An important corollary to this concept is that patients may have one of a number of different genetic diseases due to the same type of mutation in the disease-causing gene. This creates the possibility of a very different paradigm within personalized medicine, in which a drug can be designed to treat a specific genetic mutation, rather than a specific disease. The first example of this paradigm is drug-based suppression of a premature stop codon. There are a large number of individuals collectively afflicted by genetic disorders resulting form premature stop codons. Development of a drug-based therapy that can suppress this class of mutations could allow treatment of subsets of patients across a large number of genetic disorders, and thus address a substantial unmet medical need.

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