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Pharmacogenomics of Rare and Monogenic Disorders

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Pharmacogenomics and Personalized Medicine

Part of the book series: Methods in Pharmacology and Toxicology ((MIPT))

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Abstract

The rare monogenic diseases provide the most clearly evident examples of pathology resulting from a single genetic lesion. As such, they are in some sense the “low hanging fruit” for the application of pharmacogenomic therapeutic approaches. These quite often serious diseases, while still not fully understood, have seen a revolution in both disease classification as well as therapeutic approaches. Advances in genomic understanding of rare diseases both challenge traditional disease classifications as well as reveal, in many instances, a complex interplay of the host genome with its environment. Therapeutic approaches initially developed as “orphan” products, including molecular chaperones, agents to promote or stop codon skipping, various gene therapy techniques, substrate reduction therapies, and other novel therapies, have all either recently seen market approval or show clear promise as potential future treatment approaches.

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Author information

Authors and Affiliations

  1. Medical Reviewer, Office of Orphan Products Development, Food and Drug Administration, LCDR, United States Public Health Service, Rockville, MD

    Paul D. Maher

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  1. Paul D. Maher
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Editors and Affiliations

  1. Johnson and Johnson Pharmaceutical Research and Development, L.L.C., Raritan, NJ, USA

    Nadine Cohen

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© 2008 Humana Press, a part of Springer Science+Business Media, LLC

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Maher, P.D. (2008). Pharmacogenomics of Rare and Monogenic Disorders. In: Cohen, N. (eds) Pharmacogenomics and Personalized Medicine. Methods in Pharmacology and Toxicology. Humana Press. https://doi.org/10.1007/978-1-59745-439-1_21

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  • DOI: https://doi.org/10.1007/978-1-59745-439-1_21

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-934115-04-6

  • Online ISBN: 978-1-59745-439-1

  • eBook Packages: Springer Protocols

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