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Translational research in genetics and genomics

Author: Moyra Smith
Publisher: Oxford ; New York : Oxford University Press, 2008.
Edition/Format:   eBook : Document : EnglishView all editions and formats
Summary:
In Translational Research in Genetics and Genomics, noted geneticist and veteran OUP author, Moyra Smith, present a comprehensive critical review of the translation of genetic and genomic research into health care. Dr. Smith's motivation for writing is driven by the gap that exists between the rather amazing discoveries in medical genetics and genomics at basic science levels and the translation to disease  Read more...
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Genre/Form: Electronic books
Additional Physical Format: Print version:
Smith, Moyra.
Translational research in genetics and genomics.
Oxford ; New York : Oxford University Press, 2008
(DLC) 2007037252
(OCoLC)171258242
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Moyra Smith
ISBN: 9780199718344 0199718342
OCLC Number: 607552662
Description: 1 online resource (xiv, 220 pages) : illustrations
Contents: Isolation of disease genes through genomics --
Advances in genome analysis : discovery of structural variation and genomic dosage differences in health and disease --
Significance of DNA sequence changes for diagnosis and therapy --
Epigenetics --
Complex diseases : molecular genetic contributions to elucidation of etiopathogenesis of late-onset neurodegenerative diseases --
Advances in treatment of single gene disorders through translational science : treatment with small molecules (chaperones), and gene-based therapies --
From gene discovery in genetic syndromes to identification of therapeutic agents --
Impact of the environment on the genome --
Molecular defects in cancer : application to therapy --
Pharmacogenetics and pharmacogenomics --
Phenomes, phenotypes, and clinical genetic services.
Responsibility: Moyra Smith.

Abstract:

In Translational Research in Genetics and Genomics, noted geneticist and veteran OUP author, Moyra Smith, present a comprehensive critical review of the translation of genetic and genomic research into health care. Dr. Smith's motivation for writing is driven by the gap that exists between the rather amazing discoveries in medical genetics and genomics at basic science levels and the translation to disease management in single gene disorders, specific genetic syndromes, and complex genetic diseases.

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This is a high quality book without comparison. Dr. Smith's focus on these topics makes it a unique publication. * Luis F. Escobar MD, MS, St. Vincent Hospital and Health Care Center * ...an Read more...

 
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