Case Studies in Genes and Disease: A Primer for Clinicians / Edition 1

Case Studies in Genes and Disease: A Primer for Clinicians / Edition 1

by Bryan Bergeron
     
 

ISBN-10: 193051350X

ISBN-13: 9781930513501

Pub. Date: 07/01/2004

Publisher: American College of Physicians

Progress in the field of genetics is moving faster and demonstrating accomplishments unlike ever before. Genes marking for specific diseases and methods in gene therapy are evolving rapidly and being incorporated into daily patient care. Ethical issues are under constant debate by politicians, journalists, and laymen. All health care providers need to stay informed on

Overview

Progress in the field of genetics is moving faster and demonstrating accomplishments unlike ever before. Genes marking for specific diseases and methods in gene therapy are evolving rapidly and being incorporated into daily patient care. Ethical issues are under constant debate by politicians, journalists, and laymen. All health care providers need to stay informed on the research, the applicability to patient management, and the moral issues involved. Case Studies in Genes and Disease tackles all these issues for those who need it most: busy clinicians who daily see patients needing to know how advances in genetic research and therapy affect their health. Written for practitioners who are not geneticists, it does not presume an expert's familiarity with the subject. From fundamentals to specific diseases to "the dark side" of genetics, Case Studies in Genes and Disease will educate, intrigue, and astound you. Any strong structure needs a solid foundation. As more is learned about genetic causes of diseases, more can be done to manage and heal the patient. The building blocks provided in Case Studies in Genes and Disease are complex knowledge presented in a readable, clear, and easy-to-understand format. Utilizing case studies to elaborate and enlighten, the end result is this practical, current, and beautifully illustrated work on how the human genome works.

Product Details

ISBN-13:
9781930513501
Publisher:
American College of Physicians
Publication date:
07/01/2004
Pages:
262
Product dimensions:
8.50(w) x 11.00(h) x 0.70(d)

Table of Contents

Introduction and Historical Context1
Introduction1
Organization of This Book2
Historical Context5
Why Study the Human Genome?15
Sidebar
Science in the Real World8
Web Resources14
Part ITechnology
1.Fundamentals21
Clinical Case: Sickle Cell Anemia21
The Central Dogma23
Definition23
Anatomical Highlights23
Chromosomes24
Replication27
Genetic Variability27
Alleles, Mutations, and Polymorphisms27
Meiosis28
Recombination28
Independent Assortment30
Mapping30
Transcription31
Translation34
Protein Structure and Function37
Clinical Relevance40
Endnote42
Sidebars
Knockout Mice22
Mitochondrial DNA25
Junk Genes33
Interfering RNA38
2.Genes and Disease43
Clinical Case: Cystic Fibrosis43
Genetic Disease Classifications46
Gross Chromosomal Anomalies47
Extra Chromosomes47
Missing Chromosomes48
Translocations48
Deletions49
Duplications50
Mosaicism50
Chimera50
Gene-Level Anomalies50
Point Mutations51
Insertions53
Deletions54
Monogenic Diseases56
Autosomal Dominant56
Autosomal Recessive56
X-Linked Dominant57
X-Linked Recessive58
Polygenic Diseases58
Mitochondrial Diseases59
Mitochondrial Inheritance61
Mutation Etiologies62
Clinical Relevance64
Endnote65
Sidebars
Good Viral Infections?63
Of Mice and Men66
3.Immortal Cells69
Clinical Case: Breast Cancer69
Normal Cellular Regulation72
The Genetics of Cancer74
Cancer and Cell Growth74
The Multiple-Hit Model75
Pathways79
Sporadic Mutations80
Inherited Mutations80
Environment81
Regulator Genes82
Telomeres86
Eternal Youth and Immortality88
Clinical Relevance91
Endnote92
Sidebars
Living Young89
Genetic Markers and Adjuvant Therapy92
Privacy and Genetic Susceptibility Screening94
4.Experimental Methods95
Clinical Case: Malignant Hyperthermia95
Pigs and Malignant Hyperthermia96
Clinical Relevance98
Enabling Technologies100
Animal Studies100
Polymerase Chain Reaction100
Restriction Enzymes102
DNA Hybridization102
DNA Probes103
Gel Electrophoresis and DNA Fingerprinting104
Diagnostic Techniques105
Gene Chips105
Gene Sequencing110
Positional Cloning111
Blotting112
Recombinant DNA113
Restriction Fragment Length Polymorphism (RFLP) Analysis114
Therapeutic Technologies114
Gene Therapy114
DNA Vaccines116
Cloning117
Endnote119
Sidebar
On the Shoulders of Mice118
5.Bioinformatics121
Clinical Case: Duchenne Muscular Dystrophy121
Mining the Internet123
Process Overview124
Specific Resources125
Research and Development136
Sequencing136
Databases138
Visualization138
Simulation141
Data Mining143
Endnote144
Sidebars
"Heavy Metal"129
Carbon versus Silicon139
Money Matters142
Part IISocio-Political Arena
6.Designing Humans147
Clinical Case: Alzheimer's Disease147
Eugenics150
Popular Representations150
Real-World Experience151
Genomic Perspective153
Medical Therapeutics153
Gene Therapy153
Artificial Chromosomes156
Therapeutic Cloning157
Stem Cells159
Genetic Enhancement160
Preventing Obesity and Associated Diseases161
Treating Acne161
Physical Prowess162
Intelligence and Memory163
Clinical Relevance163
Endnote164
Sidebar
Voluntary Eugenics152
Evolutionary Genetics164
7.Genetically Modified Foods167
Clinical Case: Non-Insulin-Dependent Diabetes Mellitus167
Diet, Nutrition, and Health170
In the Beginning172
Engineered Foods174
Money Matters174
Creating Genetically Modified Crops175
Pest Control177
Extended Yield and Shelf Life177
Nutrition178
Genetically Modified Livestock178
Biopharmaceuticals179
Trouble in Paradise180
Endnote185
Sidebar
Mutant Fruit184
8.The Dark Side187
Clinical Case: Smallpox187
Biological Warfare189
History189
Current Threats191
Post-Genomic Developments194
Therapeutic Drug Development194
Biologicals Development195
Computers and the Internet197
Ethnically Specific Pathogens198
Defensive Measures198
Clinical Relevance203
Endnote206
Sidebar
Smallpox Vaccine: Worth the Risk?193
Chemical Gas204
9.The Future of Medical Practice207
Clinical Case: Myocardial Infarction207
Evolution of Western Medicine209
Applications of Post-Genomic Technologies211
Clinical and Research Medicine211
Drug Development214
Genetically Modified Organisms216
Biological Weapons and Forensics216
Biomaterials216
The Personal Genomics Movement217
Technology Convergence218
Controversial and Unresolved Issues218
Eugenics219
Animal Rights220
Right to Privacy220
Euthanasia221
Economics221
Safety of Genetically Modified Organisms221
Embryonic Stem Cells222
Biological Weapons222
Human Cloning222
Role of the Physician222
Endnote223
Sidebar
"On Your Marks, Get Set, ..."214
Glossary227
Bibliography and Further Reading243
Index257

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