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Zusatztext This is a high quality book without comparison. Dr. Smith's focus on these topics makes it a unique publication. Klappentext 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. Zusammenfassung 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. Inhaltsverzeichnis 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 ...
