Friedmann Molecular Genetic Medicine

Volume 3
1. Auflage 2013
ISBN: 978-1-4832-7605-2
Verlag: Elsevier Science & Techn.
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, 198 Seiten, Web PDF

Molecular Genetic Medicine, Volume III, summarizes progress in several of the most important areas of modern molecular genetics and medicine. The book opens with a chapter on the birth and early development of the field of human gene therapy and the earliest conceptual and technical descriptions of the issues and opportunities in this new area of medicine. This is followed by separate chapters on the gene responsible for cystic fibrosis; interactions and genetic phenomena that accompany the progression of astrocytic tumors; and molecular biology of Alzheimer's disease; and the search for the Huntington's disease gene and the role of genetic instability in this disease. The final chapter discusses the ways in which both the medical insurance and genetics industries will have to respond to changes in the power of genetic information and its ability to predict coronary vascular disease, cancer, neurological disease, and all the other common afflictions that constitute the bulk of their businesses.

Autoren/Hrsg.

Friedmann, Theodore

Inhaltsverzeichnis

1;Front Cover;1
2;Molecular Genetic Medicine;4
3;Copyright Page;5
4;Table of Contents;6
5;Contributors;10
6;Preface;12
7;Chapter 1. Milestones and Events in the Early Development of Human Gene Therapy;16
7.1;I. Phase 1. Prior to 1970: Genetically Marked Cells and DNA-Mediated Transformation;18
7.2;II. Phase 2. The Cline Experiment, Efficient Vectors, in Vitro Models, and the Maturing Ethical and Public Policy Debate;25
7.3;III. Phase 3. The Regulatory Process and the First Direct Clinical Applications: The Recombinant Advisory Committee (RAC), Its Gene Therapy Subcommittee, and the Food and Drug Administration (FDA);33
7.4;Acknowledgment;40
7.5;References;40
8;Chapter 2. Molecular Biology of Cystic Fibrosis;48
8.1;I. Introduction and History;48
8.2;II. Identification of the CF Gene;49
8.3;III. Mechanism of CFTR Function;63
8.4;IV. Genotype/Phenotype Relationships;68
8.5;V. Carrier Screening;72
8.6;VI. Therapeutic Prospects;73
8.7;VII. Summary;78
8.8;References;79
9;Chapter 3. Genetics of Astrocytic Tumor Progression;84
9.1;I. Cancer Is a Genetic Disease;84
9.2;II. Multistep Carcinogenesis;86
9.3;III. Tumor Progression;88
9.4;IV. Phenotypes of the Malignant Process;89
9.5;V. Mechanisms in Tumor Progression;90
9.6;VI. Clinical–Pathologic Correlation;90
9.7;VII. Biology of Astrocytic Tumors;92
9.8;VIII. Genetics of Astrocytic Tumors;94
9.9;IX. A Clonal Evolution Model for Astrocytic Tumors;97
9.10;X. Testing the Genetic Model;102
9.11;XI. Conclusion;102
9.12;References;103
10;Chapter 4. Molecular Biology of Alzheimer's Disease;110
10.1;I. Introduction;110
10.2;II. History;111
10.3;III. Epidemiology;112
10.4;IV. Genetics;112
10.5;V. Clinical and Neuropsychological Features;113
10.6;VI. Diagnosis;114
10.7;VII. Treatment;114
10.8;VIII. Nerve Growth Factor and Related Molecules in the Central Nervous System;115
10.9;IX. Central Actions of Nerve Growth Factor;116
10.10;X. NGF-Related Trophic Factors: The Neurotrophins;119
10.11;XI. Neurotrophin Receptors;121
10.12;XII. NGF Mechanism of Action;123
10.13;XIII. A Model of Trophic Factor Action in Neurodegenerative Disease;125
10.14;XIV. Molecular Neuropathology;125
10.15;XV. Amyloid Deposition in Alzheimer's Disease;126
10.16;XVI. ßAPP Processing;129
10.17;XVII. Conclusion: Clinical and Societal Implications;140
10.18;References;143
11;Chapter 5. Hunting for Huntington's Disease;154
11.1;I. Introduction;154
11.2;II. Finding a Landmark near HD;155
11.3;III. Which Way to the Prey?;156
11.4;IV. Physical Layout of the Search Area;157
11.5;V. Tools for Tracking;159
11.6;VI. Limiting the Hunt Using Crossovers in Disease Pedigrees;160
11.7;VII. The Historical Trail of HD in Allele Associations;163
11.8;VIII. What Is the Nature of the Quarry?;164
11.9;Acknowledgments;166
11.10;References;166
11.11;Note Added in Proof: Hunting's Done!;170
12;Chapter 6. Genetics, Insurance, and the Ethics of Genetic Counseling;174
12.1;I. Introduction: Genetic Prediction and the Challenge to Insurance;174
12.2;II. Health Insurance;175
12.3;III. Life Insurance;182
12.4;IV. Ethical Conflicts of Providers of Genetic Services;186
12.5;V. Conclusion;190
12.6;References;191
13;Index;194