
Translational Research in Genetics and Genomics
Moyra Smith(Author)
Oxford University Press Inc
Published on 24. April 2008
Book
Hardback
232 pages
978-0-19-531376-5 (ISBN)
Description
In this new book, noted geneticist and veteran OUP author, Moyra Smith, will 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 of these advances into evidence-based clinical practice. She will examine experimental and observational research and translation to disease management in single gene disorders, specific genetic syndromes, and complex genetic diseases. She will also examine information technology in genetic medicine, sociocultural factors that impact provision of medical care, and medical education issues with regard to translational genetics in order to help prepare a work force that is better able to utilize evidence-based medicine and to accommodate the rapid changes in genetic and genomic health care.
Reviews / Votes
...an excellent book for all clinical geneticists wanting to know where progress in genetics is at, and is partulcarly good for both the trainee and the 'older' geneticist...an excellent, brief, and understandable guide to recent advances in genetics. * Human Genetics * 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 *More details
Language
English
Place of publication
New York
United States
Target group
Professional and scholarly
Illustrations
50 illustrations
Dimensions
Height: 240 mm
Width: 161 mm
Thickness: 17 mm
Weight
523 gr
ISBN-13
978-0-19-531376-5 (9780195313765)
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
Schweitzer Classification
Other editions
Additional editions

Moyra M. D. Smith
Translational Research in Genetics and Genomics
E-Book
04/2008
OUP eBook
€45.99
Available for download

Moyra M. D. Smith
Translational Research in Genetics and Genomics
E-Book
04/2008
1st Edition
OUP eBook
€45.99
Available for download
Person
Author
Professor of Pediatrics, School of MedicineProfessor of Pediatrics, School of Medicine, University of California, Irvine (Emeritus), USA
Content
1. Isolation of Disease Genes Through Genomics ; 2. Advances in Genome Analysis: Discovery of Structural Variation and Genomic Dosage Differences in Health and Disease ; 3. Significance of DNA Sequence Changes for Diagnosis and Therapy ; 4. Epigenetics ; 5. Complex Diseases: Molecular Genetic Contributions to Elucidation of Etiopathogenesis of Late Onset Neurodegenerative Diseases ; 6. Advances in Treatment of Single Gene Disorders Through Translational Science: Treatment with Small Molecules (chaperones), and Gene Based Therapies ; 7. From Gene Discovery in Genetic Syndromes to Identification of Therapeutic Agents ; 8. Impact of the Environment on the Genome ; 9. Molecular Defects in Cancer: Application to Therapy ; 10. Pharmacogenetics and Pharmacogenomics ; 11. Phenomes, Phenotypes and Clinical Genetic Services