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.
Author(s): Moyra Smith M.D.
Edition: 1
Year: 2008
Language: English
Pages: 232
Contents......Page 14
1. Isolation of Disease Genes Through Genomics......Page 18
2. Advances in Genome Analysis: Discovery of Structural Variation and Genomic Dosage Differences in Health and Disease......Page 36
3. Significance of DNA Sequence Changes for Diagnosis and Therapy......Page 51
4. Epigenetics......Page 71
5. Complex Diseases: Molecular Genetic Contributions to Elucidation of Etiopathogenesis of Late-Onset Neurodegenerative Diseases......Page 78
6. Advances in Treatment of Single Gene Disorders Through Translational Science: Treatment With Small Molecules (Chaperones) and Gene-Based Therapies......Page 110
7. From Gene Discovery in Genetic Syndromes to Identification of Therapeutic Agents......Page 123
8. Impact of the Environment on the Genome......Page 133
9. Molecular Defects in Cancer: Application to Therapy......Page 142
10. Pharmacogenetics and Pharmacogenomics......Page 169
11. Phenomes, Phenotypes, and Clinical Genetic Services......Page 181
References......Page 194
A......Page 222
B......Page 223
C......Page 224
D......Page 225
E......Page 226
G......Page 227
I......Page 228
L......Page 229
M......Page 230
O......Page 231
P......Page 232
S......Page 233
T......Page 234
Y......Page 235
