Genomic Medicine: Principles and Practice.pdf

Genomic Medicine: Principles and Practice.pdf


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.

Professor Dhavendra Kumar, MD, FRCP, FACM, Consultant in Clinical Genetics, Institute of Medical Genetics (Cardiff University), Genomic Policy Unit (University of Glamorgan), University Hospital of Wales, Cardiff University, Cardiff, UK Professor Charis Eng, MD, PhD, FACP, Hardis Chair and Director of the Genomic Medicine Institute & Director of the Center for Personalized Genetic Healthcare, The Cleveland Clinic, Cleveland, Ohio, USA

Part I: Principles of Genomic Medicine ; 1. Genes, genetics and human genomics- Dhavendra Kumar ; 2. The human genome- structure and organization- Andrew P. Read ; 3. Human Proteomics- Brian Morrissey, Lisa Staunton, Stephen R Pennington ; 4. Epigenetics, Epigenomics and Human Disease- Aravind Ramesh, Cihangir Yandim, Theona Natisvili, Marta Mauri, Piu Pik Law, Jackson P.K. Chan, Santiago Uribe Lewis, Richard Festenstein ; 5. Genes, genome and developmental malformations- Dhavendra Kumar ; 6. Bioinformatics, Systems Biology and Systems Medicine- Binay Panda and Neeraja M Krishnan ; 7. Pharmacogenomics - Critical Component of Genomic Medicine- Wolfgang Sadee ; 8. New Drug Development, Drug Response, and Precision Medicines- Michelle Penny and Duncan McHale ; 9. Mitochondrial genetics and genomics in clinical medicine- Agnes Rotig and Dhavendra Kumar ; 10. Genomics Technology in Clinical Diagnostics- Kevin White ; 11. Microbial Genomics: targeted antimicrobial therapy and genome vaccines- Immaculada Margarit & Rino Rappuoli ; 12. Nutritional genomics- Zhenglong Gu, Kaixiong Ye and Patrick J. Stover ; 13. Genomics in Public and Population Health- Anastasia L. Wise and Teri A. Manolio ; 14. Genetic testing and genomic screening- Angus J. Clarke ; 15. Biobanking for genomics-based translational medicine- Steven J. Madore ; 16. Genetics and Genomics Education: The Path from Helix to Health- Reed E. Pyeritz ; 17. Ethical, Legal and Social Issues in Clinical Genomics- Caroline F. Wright, Anna Middleton & Michael Parker ; 18. The regulation of human genomics research- Jane Kaye ; Part II: Genomics in Clinical Practice ; 19. Genetic and genomic approaches to clinical medicine - Dhavendra Kumar ; 20. Genetic and genomic taxonomy of human disease - Dhavendra Kumar ; 21. Genomics of complex cardiovascular disease- Foram Ashar and Dan E. Arking ; 22. Genomics of type 2 diabetes mellitus and obesity-V. Radha and V. Mohan ; 23. Genetics and genomics of osteoporosis and related disorders- Yoshiji Yamada ; 24. Genetics and Genomics of chronic kidney disease- Albert C.M.Ong and Alexander P. Maxwell ; 25. Genetics and genomics in clinical hematology I- Hemostasis and Thrombosis- John Mcvey ; 26. Genetics and genomics in clinical hematology II- Inherited disorders of haemoglobin- David J. Weatherall ; 27. Genetics and genomics in clinical hematology III- Acute leukemias- Kenneth Mills ; 28. Genetics and Genomics of Chronic Inflammatory disorders I: Inflammatory Bowel Disease- Saad Pathan ; 29. Genetics and Genomics of Chronic Inflammatory disorders II: Rheumatoid Arthritis and Related Arthropathies- Kate McAllister and Stephen Eyre ; 30. Genetics and Genomics of Chronic Inflammatory disorders III: Bronchial asthma- William Cookson ; 31. Genetics and genomics of neuro-psychiatric diseases I: Seizure disorders - William Owen Pickrell ; 32. Genetics and genomics of neuro-psychiatric diseases II: Multiple Sclerosis- Katharine Harding and Neil Robertson ; 33. Genetics and genomics of neuro-psychiatric diseases III: The Common Dementias- Amy Gerrish, Rebecca Sims and Julie Williams ; 34. Genetics and genomics of neuro-psychiatric diseases IV: Schizophrenia and Bipolar Disorder - Jinbo Fan ; 35. Genetics and genomics of neuro-psychiatric diseases V: Learning and behavioural disorders- F Lucy Raymond ; 36. Clinical Cancer Genomics - Joanne Ngeow and Charis Eng ; 37. Genomics and Infectious diseases: Susceptibility, resistance and anti-microbial therapy-Michaela Fakiola, Wei Lu, Sarra E. Jamieson and Christopher S. Peacock ; 38. Genomic perspectives of clinical immunology- Cornelius L. Verweij ; 39. Genomic applications in Clinical Pediatrics- Vinod Varghese, Sian Morgan and Ian Frayling ; 40. Genetics and Genomics in clinical ophthalmology I: The spectrum of genetic eye disease-Graeme CM Black ; 41. Genetics and Genomics in clinical ophthalmology II: Glaucoma - Roshanak Sharafieh, Anne H. Child and Mansoor Sarfarazi ; 42. Genetics and Genomics in clinical ophthalmology III: Age-Related Macular Degeneration- Mark E. Kleinman and Jayakrishna Ambati ; 43. Genomic applications in audiological medicine- Daphne Karfunkel-Doron, Zippora Brownstein and Karen B. Avraham ; 44. Genetics and Genomics of skin diseases I: Diseases of the epidermis: eczema, psoriasis- Paul Bowen ; 45. Genetics and Genomics of skin diseases II: Genomics of pigmentation and skin cancer- Eugene Healy ; 46. The genetic and genomic practice of reproductive medicine- Dhavendra Kumar ; 47. Stem cell Genomics - Kyle M. Loh & Bing Lim & Lay Teng Ang ; 48. Genomic applications in critical care medicine- Mathew Frise, Charles Hinds & Julian Knight ; 49. Targeted molecular therapy- Mark Davies & Julian Sampson ; 50. Glossary for genetic and genomic medicine- terms, definitions and phrases- Dhavendra Kumar ; Index


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