Translational Research in Genetics and Genomics

by Smith, Moyra

• ISBN13: 9780195313765
• ISBN10: 0195313763
• Edition: 1st
• Format: Hardcover
• Copyright: 2008-04-02
• Publisher: Oxford University Press

Summary

Univ. of California, Irvine. Reviews recent information on progress in the translation of research in genetics and genomics to the diagnosis and treatment of single gene disorders and genetically complex disorders. Topics include isolation of disease genes through genomics and molecular defects in cancer. For geneticists.

Table of Contents

Isolation of Disease Genes Through Genomics	p. 3
Advances in Genome Analysis: Discovery of Structural Variation and Genomic Dosage Differences in Health and Disease	p. 21
Significance of DNA Sequence Changes for Diagnosis and Therapy	p. 36
Epigenetics	p. 56
Complex Diseases: Molecular Genetic Contributions to Elucidation of Etiopathogenesis of Late-Onset Neurodegenerative Diseases	p. 63
Advances in Treatment of Single Gene Disorders Through Translational Science: Treatment With Small Molecules (Chaperones) and Gene-Based Therapies	p. 95
From Gene Discovery in Genetic Syndromes to Identification of Therapeutic Agents	p. 108
Impact of the Environment on the Genome	p. 118
Molecular Defects in Cancer: Application to Therapy	p. 127
Pharmacogenetics and Pharmacogenomics	p. 154
Phenomes, Phenotypes, and Clinical Genetic Services	p. 166
References	p. 179
Index	p. 207
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