Abstract
Classical genetics has blended with molecular biology to produce the revolutionary new field called molecular genetics. A large number of diseases have a genetic component: they are either called genetic disorders (single gene defect) or have a genetic predisposition as a part of multifactorial etiology. Role of genetics in the development of personalized medicine has been discussed in Chap. 1. Molecular diagnostic technologies provide the possibility of preimplantation diagnosis and prevention of birth of affected offspring. Those missed at this stage could be detected in prenatal diagnosis giving the parents an option in decision making for continuation of the pregnancy. Specific treatments for correction of effects of genetic defects are available for some diseases and gene therapy is being developed for single gene disorders. Some of the genetic disorders are described in other chapters dealing with various systems such as the nervous system.
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Jain, K.K. (2015). Personalized Management of Genetic Disorders. In: Textbook of Personalized Medicine. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-2553-7_16
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DOI: https://doi.org/10.1007/978-1-4939-2553-7_16
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