Genomic Medicine: Principles and Practice (Oxford Monographs on Medical Genetics)

The first edition of __Genomics and Clinical Medicine__ provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of __Genomic Medicine__ reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a comprehensive coverage of principles of genetics and genomics relevant to the practice of medicine. Cover 1 Series 3 Genomic Medicine: Principles and Practice 4 Copyright 5 Dedication 6 Foreword 8 Foreword to the First Edition 10 Preface to the First Edition 12 Preface 16 Acknowledgments 18 Contents 20 Contributors 22 Part I: Principles of Genomic Medicine 30 1. Genes, Genetics, and Human Genomics 32 2. The human genome-structure and organization 42 3. Human proteomics 56 4. Epigenetics, epigenomics, and human disease 68 5. Genes, genome, and developmental malformations 90 6. Bioinformatics, systems biology, and systems medicine 112 7. Pharmacogenomics—critical component of genomic medicine 126 8. New drug development, drug response, and precision medicines 143 9. Mitochondrial genetics and genomics in clinical medicine 160 10. Genomics technology in clinical diagnostics 177 11. Microbial genomics: targeted antimicrobial therapy and genome vaccines 196 12. Nutritional genomics 209 13. Genomics in public and population health 239 14. Genetic testing and genomic screening 247 15. Biobanking for genomics-based translational medicine 264 16. Genetics and genomics education: the path from helix to health 271 17. Ethical, legal, and social issues in clinical genomics 279 18. The regulation of human genomics research 288 Part II: Genomics in Clinical Practice 296 19. Genetic and genomic approaches to clinical medicine 298 20. Genetic and genomic taxonomy of human disease 323 21. Genomics of complex cardiovascular disease 345 22. Genomics of type 2 diabetes mellitus and obesity 366 23. Genetics and genomics of osteoporosis and related disorders 381 24. Genetics and genomics of chronic kidney disease 398 25. Genetics and genomics in clinical hematology, I: Hemostasis and thrombosis 422 26. Genetics and genomics in clinical hematology, II: Inherited disorders of hemoglobin 433 27. Genetic and genomics in clinical hematology, III: Acute leukemias 441 28. Genetics and genomics of chronic inflammatory disorders, I: Inflammatory bowel disease 460 29. Genetics and genomics of chronic inflammatory disorders, II: Rheumatoid arthritis and related arthropathies 477 30. Genetics and genomics of chronic inflammatory disorders, III: Bronchial asthma 491 31. Genetics and genomics of neuro-psychiatric diseases, I: Seizure disorders 502 32. Genetics and genomics of neuro-psychiatric diseases, II: Multiple sclerosis 516 33. Genetics and genomics of neuro-psychiatric diseases, III: The common dementias 537 34. Genetics and genomics of neuro-psychiatric diseases, IV: Schizophrenia and bipolar disorder 550 35. Genetics and genomics of neuro-psychiatric diseases, V: Learning and behavioral disorders 559 36. Clinical cancer genomics 570 37. Genomics and infectious diseases: susceptibility, resistance, response, and antimicrobial therapy 594 38. Genomic perspectives of clinical immunology 620 39. Genomic applications in clinical pediatrics 632 40. Genetics and genomics in clinical ophthalmology, I: The spectrum of genetic eye disease 652 41. Genetics and genomics in clinical ophthalmology, II: Glaucoma 665 42. Genetics and genomics in clinical ophthalmology, III: Age-related macular degeneration 681 43. Genomic applications in audiological medicine 692 44. Genetics and genomics of skin diseases I: Atopic dermatitis and other skin complex diseases 712 45. Genetics and genomics of skin diseases, II: Genomics of pigmentation and skin cancer 725 46. The genetic and genomic practice of reproductive medicine 742 47. Stem cell genomics: Developmental competence 770 48. Genomic applications in critical care medicine 795 49. Molecularly targeted therapy for Mendelian disorders 810 50. Glossary for genetic and genomic medicine 817 Index 830 The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a comprehensive coverage of principles of genetics and genomics relevant to the practice of medicine. The first section lays foundation to the practice of genomic medicine. New chapters in this section include bioinformatics, proteomics, microbial genomics and genomic education. Detailed discussions of genetic/genomic testing and screening and the ethical, legal, and social issues (ELSI) crucially address genethics and genomethics in the practice of Genomic Medicine. The second section includes clinical practice oriented chapters highlighting genomic applications (array comparative genomic hybridization, exome genome sequencing and new generation generation sequencing) in clinical diagnosis of congenital developmental malformations, Mendelian genetic disorders, and complex cardiovascular, neuro-psychiatric, ophthalmic, dermatologic, inflammatory and pediatric disorders. Separate chapters discuss microbial genomics with emphasis on the role of genomics in targeted antimicrobial therapy and development of genomic class of new vaccines. New developments in gene/ cell-based somatic therapy, regenerative medicine and targeted molecular therapy are discussed in respective chapters. All chapters are thoroughly indexed and supported by a carefully compiled glossary relevant to genetic and genomic medicine