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Essentials of Genomic and Personalized Medicine
Geoffrey S. Ginsburg, Huntington F Willard
Verlag Elsevier Reference Monographs, 2009
ISBN 9780080958118 , 851 Seiten
Format PDF, ePUB, OL
Kopierschutz DRM
Geräte
Front Cover
1
Essentials of Genomic and Personalized Medicine
4
Copyright Page
5
Table of Contents
6
Preface
10
Abbreviations
12
Contributors
20
Chapter 1 The Foundations of Genomic and Personalized Medicine
22
GENOMIC AND PERSONALIZED MEDICINE
22
GENES, GENOMES, AND DISEASE
25
FROM THE GENOME TO PERSONALIZED MEDICINE
26
CHALLENGES IN THE TRANSLATION OF GENOMICS TO HUMAN HEALTH
27
THE FUTURE OF PERSONALIZED MEDICAL CARE
28
REFERENCES
29
SECTION 1 BASICS
32
Chapter 2 Organization, Variation and Expression of the Human Genome
34
INTRODUCTION
34
THE HUMAN GENOME
35
VARIATION IN THE HUMAN GENOME
37
EXPRESSION OF THE HUMAN GENOME
40
GENOME SEQUENCING
41
REFERENCES
44
RECOMMENDED RESOURCES
47
Chapter 3 DNA Sequencing for the Detection of Human Genome Variation
48
INTRODUCTION
48
DNA SEQUENCING
49
ACKNOWLEDGEMENTS
57
REFERENCES
57
Chapter 4 Genome-Wide Association Studies and Genotyping Technologies
59
INTRODUCTION
59
PRINCIPLES OF GENOME-WIDE ASSOCIATION STUDIES
59
PLATFORM OVERVIEW
61
REFERENCES
65
Chapter 5 Copy Number Variation and Human Health
67
INTRODUCTION
67
BASIC PRINCIPLES OF CNVs
67
DETECTING CNVs IN A GENOME-WIDE MANNER
71
ASSOCIATION OF CNVs WITH DISEASE AND DISEASE SUSCEPTIBILITY
73
IMPLICATIONS OF CNVs
75
ACKNOWLEDGEMENTS
79
REFERENCES
79
RECOMMENDED RESOURCES
80
Chapter 6 DNA Methylation Analysis: Providing New Insight into Human Disease
81
INTRODUCTION
81
TECHNOLOGY TO ASSESS DNA METHYLATION
82
CLINICAL IMPACT OF DNA METHYLATION ANALYSIS
86
REFERENCES
90
RECOMMENDED RESOURCES
93
Chapter 7 DNA Microarrays in Biological Discovery and Patient Care
94
INTRODUCTION
94
MICROARRAY TECHNOLOGY
94
DATA ANALYSIS
97
APPLICATIONS
98
LIMITATIONS AND CHALLENGES
101
FUTURE DIRECTIONS
102
REFERENCES
105
RECOMMENDED RESOURCES
109
Chapter 8 Proteomics: The Deciphering of the Functional Genome
110
INTRODUCTION
110
GEL-BASED AND SOLUTION-BASED PROTEOMICS
111
MASS SPECTROMETRY
112
BIOINFORMATICS
113
IMPACT OF PROTEOMICS ON UNDERSTANDING DISEASES
115
ACKNOWLEDGEMENTS
117
REFERENCES
117
RECOMMENDED RESOURCES
117
Chapter 9 Comprehensive Metabolic Analysis for Understanding of Disease
118
INTRODUCTION
118
CURRENT METABOLOMICS PLATFORMS: BASIC TOOLS AND GENERAL FEATURES
119
COMPARISON OF NMR AND MS TECHNOLOGIES FOR UNBIASED METABOLIC PROFILING
120
MS METHODS FOR TARGETED METABOLIC PROFILING
121
EXAMPLES OF NMR-BASED METABOLIC PROFILING IN DISEASE RESEARCH
122
EXAMPLES OF TARGETED MS-BASED METABOLIC PROFILING FOR UNDERSTANDING OF DISEASE MECHANISMS
122
REFERENCES
126
SECTION 2 INFORMATICS
130
Chapter 10 Bioinformatic and Computational Analysis for Genomic Medicine
132
INTRODUCTION
132
VIGNETTES: HOW SPECIFIC BIOINFORMATICS METHODS CAN CHANGE THE PRACTICE OF MEDICINE
133
ANALYTIC METHODS
139
WHERE DATA FOR STUDIES MAY BE FOUND
140
BIOINFORMATICS VOCABULARIES AND ONTOLOGIES
141
FREELY AVAILABLE BIOINFORMATICS TOOLS
142
ACKNOWLEDGEMENTS
147
REFERENCES
147
RECOMMENDED RESOURCES
151
Chapter 11 Systems Biology and Systems Medicine
152
INTRODUCTION
152
SYSTEMS SCIENCE IN BIOLOGY AND MEDICINE
153
MULTI-PARAMETER BLOOD-BOURNE BIOMARKERS
154
EMERGING IN VIVO AND IN VITRO TECHNOLOGIES
155
COMPUTATIONAL AND MATHEMATICAL CHALLENGES IN SYSTEMS MEDICINE
158
REFERENCES
160
RECOMMENDED RESOURCES
162
Chapter 12 Electronic Medical Records in Genomic Medicine Practice and Research
163
INTRODUCTION
163
EMRs AND GENOMIC MEDICINE CLINICAL PRACTICE
164
EMRs AND GENOMIC MEDICINE RESEARCH
166
ACKNOWLEDGEMENTS
170
REFERENCES
170
RECOMMENDED RESOURCES
171
Chapter 13 Online Health Information Retrieval by Consumers
172
INTRODUCTION
172
CHARACTERISTICS OF CONSUMER SEARCHES FOR HEALTH INFORMATION
172
WHAT AND WHERE ARE CONSUMERS SEARCHING?
173
PERSONALIZED GENOMICS FOR CONSUMERS
175
REFERENCES
179
WIKIPEDIA REFERENCES
180
SECTION 3 TRANSLATIONAL
182
Chapter 14 Translational Genomics: From Discovery to Clinical Practice
184
INTRODUCTION
184
A ROADMAP FOR TRANSLATION
185
WHERE CAN GENOMICS HAVE IMPACT IN THE CONTINUUM OF HEALTH AND DISEASE?
185
TRANSLATIONAL GENOMICS: ENABLING COMPETENCIES
186
DEVELOPING ENVIRONMENTS THAT FOSTER TRANSLATIONAL GENOMICS TO HEALTH APPLICATIONS
190
REFERENCES
194
Chapter 15 Pharmacogenetics and Pharmacogenomics
196
INTRODUCTION
196
PHARMACOGENETIC STUDIES: FROM CONCEPT TO PRACTICE
198
MARKER SELECTION – STRATEGY AND APPLICATION
200
FROM BENCH TO BEDSIDE: INTEGRATION OF PHARMACOGENETIC TESTING INTO CLINICAL PRACTICE
203
EXAMPLES OF PGx TESTS: PROMISING NEW DEVELOPMENTS AND MARKETED PRODUCTS
204
FUTURE DEVELOPMENTS REQUIRED FOR THE FIELD TO FULLY MEET ITS EXPECTATIONS
206
REFERENCES
209
RECOMMENDED RESOURCES
211
Chapter 16 Clinical Implementation of Translational Genomics
212
INTRODUCTION
212
GENETIC STRATIFICATION WILL ALLOW MEDICAL CARE TO BE INDIVIDUALIZED AFTER A DIAGNOSIS IS MADE
212
POPULATION-BASED GERMLINE GENOMIC SCREENING
213
NEWBORN SCREENING
214
SOMATIC GENOMIC VARIATION
215
NOVEL SOURCES OF GENOMIC VARIATION
215
LABORATORY STANDARDS TO ENSURE ANALYTIC VALIDITY
215
CLINICAL VALIDATION AND CLINICAL UTILITY
216
COST
217
REIMBURSEMENT
217
WHO WILL PROVIDE GENOMIC MEDICAL CARE?
217
GENOMIC LITERACY
218
ACKNOWLEDGEMENTS
220
REFERENCES
220
RECOMMENDED RESOURCES
221
Chapter 17 The Role of Genomics in Enabling Prospective Health Care
222
INTRODUCTION
222
PREDICTIVE MODELS
224
PREDICTIVE FACTORS
224
ACKNOWLEDGEMENTS
228
REFERENCES
228
RECOMMENDED RESOURCES
229
Chapter 18 Genome Policy Considerations for Genomic Medicine
230
INTRODUCTION
230
GENOME RESEARCH AFTER THE HUMAN GENOME PROJECT
231
POLICY ISSUES IN LARGE-SCALE GENETICS AND GENOMICS RESEARCH
232
INTEGRATING GENOMIC MEDICINE APPLICATIONS IN HEALTHCARE
234
REFERENCES
239
Chapter 19 Federal Regulation of Genomic Medicine
244
INTRODUCTION
244
REGULATION OF GENOMIC TESTS
246
PHARMACOGENOMICS IN DRUG DEVELOPMENT AND CLINICAL MEDICINE: THE ROLE OF REGULATION
248
REFERENCES
252
RECOMMENDED RESOURCES
253
Chapter 20 Economic Issues and Genomic Medicine
254
INTRODUCTION
254
ECONOMIC EVALUATION AND COST-EFFECTIVENESS ANALYSIS
254
EVALUATING GENOMIC TECHNOLOGIES
256
ECONOMIC INCENTIVES AND THE FUTURE OF GENOMIC MEDICINE
258
ESTABLISHING VALUE-BASED REIMBURSEMENT FOR GENOMIC TECHNOLOGIES
260
ECONOMIC CHALLENGES
261
REFERENCES
264
Chapter 21 Public Health Genomics
266
INTRODUCTION
266
THE DEFINITION OF PUBLIC HEALTH GENOMICS
266
KEY CONCEPTS IN PUBLIC HEALTH GENOMICS
267
THE “ENTERPRISE” OF PUBLIC HEALTH GENOMICS
268
CORE ACTIVITIES IN PUBLIC HEALTH GENOMICS
269
THE ROLE OF PUBLIC HEALTH IN THE TRANSLATION OF HUMAN GENOME DISCOVERIES INTO HEALTH APPLICATIONS
271
THE FOCUS ON DISEASE PREVENTION AND HEALTH PROMOTION
271
REFERENCES
274
RECOMMENDED RESOURCES
276
SECTION 4 CLINICAL (CARDIOLOGY)
278
Chapter 22 The Genomics of Hypertension
280
INTRODUCTION
280
PREDISPOSITION
281
DIAGNOSIS
283
PROGNOSIS
284
PHARMACOGENOMICS
285
ACKNOWLEDGEMENTS
288
REFERENCES
288
RECOMMENDED RESOURCES
289
Chapter 23 Lipoprotein Disorders
290
INTRODUCTION
290
OVERVIEW OF LIPOPROTEIN METABOLISM
290
PLASMA LIPID AND LIPOPROTEIN LEVELS AND ATHEROSCLEROTIC CARDIOVASCULAR DISEASE
292
INHERITED BASIS FOR BLOOD LIPID TRAITS
292
SCREENING FOR LIPID DISORDERS
293
GENETICS OF LDL-C
293
GENETICS OF HDL-C
295
GENETICS OF TRIGLYCERIDES
298
GENETIC LIPID DISORDERS WITHOUT CURRENT PROVEN MOLECULAR ETIOLOGY
299
INFLUENCE OF LIPID-MODULATING MUTATIONS ON RISK OF ATHEROSCLEROTIC CARDIOVASCULAR DISEASE
299
FUTURE DIRECTIONS IN GENETICS AND GENOMICS OF LIPOPROTEINS
300
PHARMACOGENETICS OF LIPID-MODULATING THERAPIES
302
IMPLICATIONS OF GENOMICS OF LIPOPROTEIN METABOLISM FOR THE DEVELOPMENT OF NOVEL THERAPIES
302
CLINICAL RECOMMENDATIONS FOR GENETIC TESTING FOR LIPID DISORDERS
303
ACKNOWLEDGEMENTS
306
REFERENCES
306
RECOMMENDED RESOURCES
309
Chapter 24 Genomics of Myocardial Infarction
310
INTRODUCTION
310
PREDISPOSITION
310
SCREENING STRATEGIES
316
PROGNOSTIC IMPLICATIONS OF MI
317
PHARMACOGENOMICS OF MI
317
NOVEL AND EMERGING THERAPIES
318
REFERENCES
320
RECOMMENDED RESOURCES
323
Chapter 25 Acute Coronary Syndromes
324
INTRODUCTION
324
PREDISPOSITION
324
SCREENING
325
DIAGNOSIS
326
PROGNOSIS
329
ACKNOWLEDGEMENTS
331
REFERENCES
331
RECOMMENDED RESOURCES
333
Chapter 26 Heart Failure in the Era of Genomic Medicine
334
INTRODUCTION
334
PREDISPOSITION (GENETIC AND NON-GENETIC)
334
SCREENING
335
PATHOPHYSIOLOGY
336
DIAGNOSIS
337
PROGNOSIS
338
PHARMACOGENOMICS
339
MONITORING
340
ACKNOWLEDGEMENTS
344
REFERENCES
344
Chapter 27 Genomic Assessment of Cardiac Transplant Rejection
347
INTRODUCTION
347
CARDIAC ALLOTRANSPLANTATION AS A DEFINITIVE THERAPY FOR END-STAGE HEART FAILURE
347
THE PROBLEM OF ALLOGRAFT REJECTION
348
IMMUNOSUPPRESSION STRATEGIES TO PREVENT REJECTION
348
CURRENT STRATEGIES FOR MONITORING TRANSPLANT REJECTION
349
THE CARGO CLINICAL STUDY
351
DEVELOPMENT OF A GENE EXPRESSION SIGNATURE FOR CARDIAC TRANSPLANT REJECTION
351
PATHWAYS MONITORED BY THE GEP (AlloMap™) TEST
352
VARIABILITY OF THE BIOPSY GOLD STANDARD AND RELATIONSHIP TO THE GEP (AlloMap™) SCORE
352
DISCORDANCE BETWEEN BIOPSY GRADE AND MOLECULAR SCORE
352
EFFECT OF TIME POST-TRANSPLANTATION ON PERFORMANCE OF THE GEP TEST
353
RELATIONSHIP OF GEP SCORE TO CORTICOSTEROID DOSE
353
PREDICTION OF FUTURE ACR BY MOLECULAR SCORE
353
CLINICAL USE OF THE AlloMap™ TEST
354
REFERENCES
355
Chapter 28 Genetics and Genomics of Hypertrophic Cardiomyopathy
357
INTRODUCTION
357
DEFINITIONS, CLINICAL PRESENTATION, AND DIAGNOSIS
357
MOLECULAR GENETICS OF HCM
359
SCREENING AND TREATMENT FOR HCM
363
REFERENCES
367
Chapter 29 Genetics and Genomics of Arrhythmias
371
INTRODUCTION
371
SPECIFIC CARDIAC ARRHYTHMIAS
371
PRIMARY ABNORMALITIES IN CARDIAC RHYTHM: VENTRICULAR TACHYARRHYTHMIAS
371
COMPLEX FORMS OF LQTS
378
SHORT QT INTERVAL SYNDROME
382
FAMILIAL VT/CPVT
382
PRIMARY CONDUCTION ABNORMALITIES
383
REFERENCES
387
Chapter 30 Genetics and Genomics in the Management of Hemostasis and Thrombosis
395
INTRODUCTION
395
GENETICS OF COAGULATION
395
HUMAN HEMOSTATIC VARIABILITY
397
GENOTYPE–PHENOTYPE INFLUENCES
397
GENE-ENVIRONMENT INFLUENCES ON HEMOSTASIS
398
CIRCULATING CELLULAR AND PROTEIN INFLUENCES ON HEMOSTASIS AND THROMBOSIS
399
LINKAGE STUDIES IN THROMBOSIS
400
ASSOCIATION STUDIES IN THROMBOSIS
401
HERITABILITY AND THROMBOSIS: EXISTING COMPLEXITIES
401
A PERSONALIZED APPROACH TO HEMOSTASIS AND THROMBOSIS
401
PATIENT SCREENING: A TRADITIONAL PARADIGM
401
PATIENT SCREENING: A COMPREHENSIVE AND POPULATION-BASED APPROACH
402
PROGNOSTIC CONSIDERATIONS
403
EMERGING PLATFORM FOR HEMOSTASIS AND THROMBOSIS RESEARCH
405
REFERENCES
409
Chapter 31 Genomics of Congenital Heart Disease
411
INTRODUCTION
411
CHD GENE DISCOVERY BY CONVENTIONAL GENETICS
411
GENOMIC STRATEGIES FOR CHD GENE DISCOVERY
416
CYTOGENETIC AND MOLECULAR GENETIC TESTING
417
MEDICAL EVALUATION AND COUNSELING RECOMMENDATIONS
418
ACKNOWLEDGEMENTS
421
REFERENCES
421
RECOMMENDED RESOURCES
423
SECTION 5 CLINICAL (ONCOLOGY)
426
Chapter 32 Genomics in the Management of Lymphomas
428
INTRODUCTION
428
DIFFUSE LARGE B-CELL LYMPHOMA
431
PRIMARY MEDIASTINAL LARGE B-CELL LYMPHOMA
432
HODGKIN LYMPHOMA
433
FOLLICULAR LYMPHOMA
434
MANTLE CELL LYMPHOMA
436
BURKITT LYMPHOMA
436
REFERENCES
438
Chapter 33 Genomics in Leukemias
442
INTRODUCTION
442
GENOMICS IN LEUKEMIAS: INSIGHTS INTO LEUKEMIA BIOLOGY
444
GENOMICS IN LEUKEMIAS: EVALUATION OF DRUG EFFECTS
445
GENOMICS IN LEUKEMIAS: CLINICAL OUTCOME PREDICTION
447
ACKNOWLEDGMENTS
450
REFERENCES
450
RECOMMENDED RESOURCES
452
Chapter 34 Genomics in the Diagnosis and Management of Lung Cancer
453
INTRODUCTION
453
EARLY DIAGNOSIS/SCREENING OF LUNG CANCER
454
CLASSIFICATION AND PROGNOSIS
456
PATHOGENESIS AND TREATMENT OF LUNG CANCER
459
REFERENCES
464
RECOMMENDED RESOURCE
466
Chapter 35 Genomics in the Diagnosis and Management of Breast Cancer
467
INTRODUCTION
467
THE PROMISE
467
GENETIC BASES
469
MOLECULAR BASES
469
PROGNOSIS AND PREDICTION
470
MOLECULAR MARKERS
470
GENOMIC INSIGHTS
471
NETHERLANDS CANCER INSTITUTE STUDY
471
DUKE-TAIPEI STUDY
473
NSABP STUDY
473
PATHWAY PREDICTION
474
THE REALITY OF CLINICAL GENOMICS
474
REFERENCES
476
Chapter 36 Colorectal Cancer
478
INTRODUCTION
478
GENOMIC MODEL OF CRC
479
PREDISPOSITION FOR CRC
481
RISK ASSESSMENT, EVALUATION, AND GENETIC TESTING
486
SCREENING AND SURVEILLANCE
488
PROGNOSIS AND TREATMENT
488
PHARMACOGENETICS/GENOMICS OF CHEMOPREVENTION AND CHEMOTHERAPY
489
REFERENCES
492
Chapter 37 Genomic Evaluation and Management of Prostate Cancer
498
INTRODUCTION
498
GENETIC PREDISPOSITION AND ALTERATIONS IN PROSTATE CANCER
498
PROSTATE CANCER DETECTION
501
GENOMIC CHANGES ASSOCIATED WITH PROSTATE CANCER BEHAVIOR
504
GENOMIC CHANGES ASSOCIATED WITH HORMONE-REFRACTORY PROSTATE CANCER
506
REFERENCES
509
Chapter 38 Genomic Assessment of Ovarian Cancer
514
INTRODUCTION
514
INHERITED OVARIAN CANCER SYNDROMES
514
OPTIONS FOR SCREENING AND PREVENTION
515
GENOMIC INSTABILITY AND OVARIAN CANCER
515
SOMATIC MUTATIONS IN OVARIAN CANCER
515
ONCOGENES AND GROWTH FACTORS
516
TUMOR SUPPRESSOR GENES
517
EPIGENETICS IN OVARIAN CARCINOGENESIS
517
OVARIAN CANCER METASTASES
517
REFERENCES
520
Chapter 39 Genomic Evaluation of Pancreatic Neoplasms
522
INTRODUCTION
522
PREDISPOSITION (GENETIC AND NON-GENETIC)
523
SCREENING
523
DIAGNOSIS
524
PROGNOSIS
526
REFERENCES
529
Chapter 40 Genomic Evaluation of Head and Neck Cancer
532
INTRODUCTION
532
HEAD AND NECK SQUAMOUS CELL CARCINOMA
532
GENOMICS OF HNSCC: CLINICAL APPLICATIONS
538
REFERENCES
540
RECOMMENDED RESOURCES
542
Chapter 41 Genomic Evaluation of Brain Tumors and Gliomas
543
INTRODUCTION
543
PREDISPOSITION
544
DIAGNOSIS AND PROGNOSIS
545
PHARMACOGENOMICS
548
SUMMARY
548
REFERENCES
550
Chapter 42 Targeted Therapies for Cancer
553
INTRODUCTION
553
TARGETED THERAPIES FOR CANCER
553
THE IDEAL TARGET
553
THE FIRST DIAGNOSTIC-THERAPEUTIC COMBINATION IN CANCER THERAPY: HORMONAL THERAPY FOR BREAST CANCER
554
DIAGNOSTIC-THERAPEUTIC COMBINATIONS FOR LEUKEMIA AND LYMPHOMA
554
HER-2 POSITIVE BREAST CANCER AND TRASTUZUMAB (HERCEPTIN®)
555
OTHER TARGETED ANTICANCER THERAPIES USING ANTIBODIES
556
SELECTED TARGETED ANTICANCER THERAPIES USING SMALL MOLECULES
561
REFERENCES
565
SECTION 6 CLINICAL (INFLAMMATORY DISEASE)
570
Chapter 43 Genomics in the Evaluation and Management of Rheumatoid Arthritis
572
INTRODUCTION
572
PREDISPOSITION
573
SCREENING
578
DIAGNOSIS, PROGNOSIS, AND MONITORING
579
REFERENCES
582
Chapter 44 Genomic Evaluation of Multiple Sclerosis
587
INTRODUCTION
587
GENOMICS IN MS
587
TRANSCRIPTOMICS IN MS
589
IMMUNOMICS IN MS
590
PROTEOMICS IN MS
591
REFERENCES
593
Chapter 45 Genomic Assessment of Inflammatory Bowel Disease
596
INTRODUCTION
596
PREDISPOSITION (GENETIC AND NON-GENETIC)
597
SCREENING
599
DIAGNOSIS
600
PROGNOSIS
601
PHARMACOGENOMICS
603
REFERENCES
606
Chapter 46 Asthma Genomics
611
INTRODUCTION
611
ASTHMA: BASIC PATHOBIOLOGY
611
PREDISPOSITION (GENETIC AND NON-GENETIC) TO ASTHMA
612
GENOME-WIDE LINKAGE ANALYSES OF ASTHMA AND ITS INTERMEDIATE PHENOTYPES
612
CANDIDATE-GENE ASSOCIATION STUDIES OF ASTHMA
614
GENOME-WIDE ASSOCIATION STUDIES OF ASTHMA
615
ASTHMA GENOMICS
615
PHARMACOGENETICS
615
ACKNOWLEDGEMENTS
619
REFERENCES
619
RECOMMENDED RESOURCE
623
Chapter 47 Genomics in the Evaluation and Management of Chronic Obstructive Pulmonary Disease
624
INTRODUCTION
624
PREDISPOSITION
624
PATHOPHYSIOLOGY
625
CELLULAR AND MOLECULAR MECHANISMS
627
DIAGNOSIS AND SCREENING
630
PROGNOSIS
631
MANAGEMENT
631
REFERENCES
635
Chapter 48 Genetics and Genomics of Interstitial Lung Disease
637
INTRODUCTION
637
GENETIC DETERMINANTS OF SARCOIDOSIS
638
SURFACTANT PROTEINS AND DPLD
640
GENETIC DETERMINANTS OF PULMONARY FIBROSIS IDENTIFIED IN RARE INHERITED DISORDERS
641
GENETIC DETERMINANTS OF FIP
641
REFERENCES
645
Chapter 49 Peptic Ulcer Disease
648
INTRODUCTION
648
PATHOPHYSIOLOGY OF ULCER FORMATION
649
THE HELICOBACTER GENOME
650
HUMAN POLYMORPHISM AND PUD
656
GENOMICS IN THE MANAGEMENT OF DISEASE
656
ACKNOWLEDGEMENTS
659
REFERENCES
659
RECOMMENDED RESOURCES
663
SECTION 7 CLINICAL (METABOLIC DISEASE)
664
Chapter 50 Genomics in Pathogenesis of Cirrhosis
666
INTRODUCTION
666
FIBROSIS AND CIRRHOSIS
666
DIAGNOSIS OF CIRRHOSIS
667
GENETICS OF CIRRHOSIS
667
THE LIVER TRANSCRIPTOME
669
THE LIVER PROTEOME
670
DEVELOPMENT OF LIVER FIBROSIS
670
TRANSCRIPTOME ANALYSIS OF LIVER DISEASE
672
PROTEOMIC STUDIES OF LIVER DISEASE
674
PROTEOMICS IN OTHER LIVER DISEASE
676
REFERENCES
678
Chapter 51 Genomic Medicine and Obesity
682
INTRODUCTION
682
OBESITY: CAUSES AND GENETIC PREDISPOSITION
682
SEARCH FOR GENES INVOLVED IN OBESITY
684
DIAGNOSIS AND CHARACTERIZATION OF GENES ASSOCIATED WITH OBESITY
685
SCREENING AND DIAGNOSIS
689
PROGNOSIS AND GENE-BASED TREATMENTS
690
ACKNOWLEDGEMENTS
694
REFERENCES
694
Chapter 52 Diabetes
697
INTRODUCTION
697
GWAS IN TYPE 2 DIABETES
698
FUTURE RESEARCH IN TYPE 2 DIABETES GENETICS
700
GWAS IN TYPE 1 DIABETES
701
FUTURE STUDIES IN TYPE 1 DIABETES
702
CLINICAL UTILITY OF GENETIC RESEARCH IN DIABETES
702
REFERENCES
703
SECTION 8 CLINICAL (NEUROLOGICAL DISEASE)
706
Chapter 53 Genetics and Genomics of Dementia
708
INTRODUCTION
708
INCIDENCE OF DEMENTIA
709
PRIMARY DEMENTIAS
710
CLINICAL APPROACH TO THE DEMENTIAS
715
REFERENCES
717
RECOMMENDED RESOURCES
720
Chapter 54 Genetics and Genomics of Parkinson's Disease
721
INTRODUCTION
721
CLINICAL CHARACTERISTICS OF PD
721
GENETICS OF PD
723
GENETICS OF SPORADIC PD
726
REFERENCES
730
RECOMMENDED RESOURCES
732
Chapter 55 Genomic Considerations in Ophthalmology
733
INTRODUCTION
733
LENS
736
IRIS
736
TRABECULAR MESHWORK
736
OPTIC NERVE
737
RETINA
737
GENETIC TESTING FOR OCULAR DISORDERS
738
REFERENCES
740
Chapter 56 Genomics in the Diagnosis and Management of Depression
743
INTRODUCTION
743
DIAGNOSIS, PREVALENCE AND COURSE OF DEPRESSION
743
PATHOPHYSIOLOGICAL MECHANISMS
744
PHARMACOGENOMICS OF ANTIDEPRESSANTS
747
GENE AND PROTEIN EXPRESSION STUDIES
748
FUTURE CONSIDERATIONS
748
REFERENCES
750
SECTION 9 CLINICAL (INFECTIOUS DISEASE)
752
Chapter 57 Genomic Approaches to the Host Response to Pathogens
754
INTRODUCTION
754
GENETIC SUSCEPTIBILITY TO PATHOGENS
755
EXPLORING THE HOST RESPONSE THROUGH EXPRESSION PROFILING
757
ACKNOWLEDGEMENT
761
REFERENCES
761
RECOMMENDED RESOURCES
764
Chapter 58 Host Genomics and Bacterial Infections
765
INTRODUCTION
765
GENOMICS AND THE STUDY OF BACTERIAL INFECTIONS
765
HOST GENOMICS AND GRAM-POSITIVE, GRAM-NEGATIVE AND MYCOBACTERIAL INFECTIONS
769
REFERENCES
776
Chapter 59 Genomics in the Evaluation and Management of Sepsis
781
INTRODUCTION
781
GENETIC POLYMORPHISMS ASSOCIATED WITH SEPSIS
782
MOLECULAR SIGNATURES AND SEPSIS
787
REFERENCES
791
Chapter 60 Genomics and the Management of Hepatitis
795
INTRODUCTION
795
VIROLOGY OF HEPATITIS VIRUSES
795
ACQUISITION AND PREDISPOSITION TO VIRAL HEPATITIS
797
SCREENING AND DIAGNOSIS OF VIRAL HEPATITIS
798
PATHOGENESIS OF VIRAL HEPATITIS
799
THERAPEUTICS AND PHARMACOGENOMICS
802
REFERENCES
804
Index
808
A
808
B
812
C
813
D
819
E
821
F
822
G
824
H
826
I
829
J
831
K
831
L
831
M
834
N
837
O
838
P
839
Q
843
R
843
S
845
T
847
U
849
V
850
W
850
X
851
Y
851
Z
851
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