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

Abstract


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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