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

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2004 Paperback New NEW. 2004 very large paperback, light gray illustrated cover, 262pp. New book, very slight shelf wear. **We provide professional service and individual ... attention to your order, daily shipments, and sturdy packaging. FREE TRACKING ON ALL SHIPMENTS WITHIN USA. Read more Show Less

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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.

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Product Details

  • ISBN-13: 9781930513501
  • Publisher: American College of Physicians
  • Publication date: 7/1/2004
  • Edition number: 1
  • Pages: 262
  • Product dimensions: 8.50 (w) x 11.00 (h) x 0.70 (d)

Table of Contents

Introduction and Historical Context 1
Introduction 1
Organization of This Book 2
Historical Context 5
Why Study the Human Genome? 15
Science in the Real World 8
Web Resources 14
Part I Technology
1. Fundamentals 21
Clinical Case: Sickle Cell Anemia 21
The Central Dogma 23
Definition 23
Anatomical Highlights 23
Chromosomes 24
Replication 27
Genetic Variability 27
Alleles, Mutations, and Polymorphisms 27
Meiosis 28
Recombination 28
Independent Assortment 30
Mapping 30
Transcription 31
Translation 34
Protein Structure and Function 37
Clinical Relevance 40
Endnote 42
Knockout Mice 22
Mitochondrial DNA 25
Junk Genes 33
Interfering RNA 38
2. Genes and Disease 43
Clinical Case: Cystic Fibrosis 43
Genetic Disease Classifications 46
Gross Chromosomal Anomalies 47
Extra Chromosomes 47
Missing Chromosomes 48
Translocations 48
Deletions 49
Duplications 50
Mosaicism 50
Chimera 50
Gene-Level Anomalies 50
Point Mutations 51
Insertions 53
Deletions 54
Monogenic Diseases 56
Autosomal Dominant 56
Autosomal Recessive 56
X-Linked Dominant 57
X-Linked Recessive 58
Polygenic Diseases 58
Mitochondrial Diseases 59
Mitochondrial Inheritance 61
Mutation Etiologies 62
Clinical Relevance 64
Endnote 65
Good Viral Infections? 63
Of Mice and Men 66
3. Immortal Cells 69
Clinical Case: Breast Cancer 69
Normal Cellular Regulation 72
The Genetics of Cancer 74
Cancer and Cell Growth 74
The Multiple-Hit Model 75
Pathways 79
Sporadic Mutations 80
Inherited Mutations 80
Environment 81
Regulator Genes 82
Telomeres 86
Eternal Youth and Immortality 88
Clinical Relevance 91
Endnote 92
Living Young 89
Genetic Markers and Adjuvant Therapy 92
Privacy and Genetic Susceptibility Screening 94
4. Experimental Methods 95
Clinical Case: Malignant Hyperthermia 95
Pigs and Malignant Hyperthermia 96
Clinical Relevance 98
Enabling Technologies 100
Animal Studies 100
Polymerase Chain Reaction 100
Restriction Enzymes 102
DNA Hybridization 102
DNA Probes 103
Gel Electrophoresis and DNA Fingerprinting 104
Diagnostic Techniques 105
Gene Chips 105
Gene Sequencing 110
Positional Cloning 111
Blotting 112
Recombinant DNA 113
Restriction Fragment Length Polymorphism (RFLP) Analysis 114
Therapeutic Technologies 114
Gene Therapy 114
DNA Vaccines 116
Cloning 117
Endnote 119
On the Shoulders of Mice 118
5. Bioinformatics 121
Clinical Case: Duchenne Muscular Dystrophy 121
Mining the Internet 123
Process Overview 124
Specific Resources 125
Research and Development 136
Sequencing 136
Databases 138
Visualization 138
Simulation 141
Data Mining 143
Endnote 144
"Heavy Metal" 129
Carbon versus Silicon 139
Money Matters 142
Part II Socio-Political Arena
6. Designing Humans 147
Clinical Case: Alzheimer's Disease 147
Eugenics 150
Popular Representations 150
Real-World Experience 151
Genomic Perspective 153
Medical Therapeutics 153
Gene Therapy 153
Artificial Chromosomes 156
Therapeutic Cloning 157
Stem Cells 159
Genetic Enhancement 160
Preventing Obesity and Associated Diseases 161
Treating Acne 161
Physical Prowess 162
Intelligence and Memory 163
Clinical Relevance 163
Endnote 164
Voluntary Eugenics 152
Evolutionary Genetics 164
7. Genetically Modified Foods 167
Clinical Case: Non-Insulin-Dependent Diabetes Mellitus 167
Diet, Nutrition, and Health 170
In the Beginning 172
Engineered Foods 174
Money Matters 174
Creating Genetically Modified Crops 175
Pest Control 177
Extended Yield and Shelf Life 177
Nutrition 178
Genetically Modified Livestock 178
Biopharmaceuticals 179
Trouble in Paradise 180
Endnote 185
Mutant Fruit 184
8. The Dark Side 187
Clinical Case: Smallpox 187
Biological Warfare 189
History 189
Current Threats 191
Post-Genomic Developments 194
Therapeutic Drug Development 194
Biologicals Development 195
Computers and the Internet 197
Ethnically Specific Pathogens 198
Defensive Measures 198
Clinical Relevance 203
Endnote 206
Smallpox Vaccine: Worth the Risk? 193
Chemical Gas 204
9. The Future of Medical Practice 207
Clinical Case: Myocardial Infarction 207
Evolution of Western Medicine 209
Applications of Post-Genomic Technologies 211
Clinical and Research Medicine 211
Drug Development 214
Genetically Modified Organisms 216
Biological Weapons and Forensics 216
Biomaterials 216
The Personal Genomics Movement 217
Technology Convergence 218
Controversial and Unresolved Issues 218
Eugenics 219
Animal Rights 220
Right to Privacy 220
Euthanasia 221
Economics 221
Safety of Genetically Modified Organisms 221
Embryonic Stem Cells 222
Biological Weapons 222
Human Cloning 222
Role of the Physician 222
Endnote 223
"On Your Marks, Get Set, ..." 214
Glossary 227
Bibliography and Further Reading 243
Index 257
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