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E-raamat: Genomic Medicine: Principles and Practice

Edited by (Hardis Chair and Director of the Genomic Medicine Institute, Director of the Center for Personalized Genetic Healthcare), Edited by (Consultant in Clinical Genetics, Institute of Medical Genetics, Cardiff University)
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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 ofGenomic 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.

Arvustused

Genomics and Clinical Medicine is the first textbook to comprehensively examine Medicine, especially pathophysiology and pathogenesis, through the lens of genomics. * JAMA * ...written by an equally outstanding roaster of authors, deal with all aspects of Genomic Medicine. The book combines general principles, and specific aspects of clinical practice, all in the light of genome analysis and the current laboratory methodologies." * Stylianos E. Antonarakis, Professor and Chairman of Genetic Medicine, University of Geneva, President of Human Genome Organization, Geneva, Switzerland * ...most physicians have had little or no training in genetics or genomics, and will be hard pressed to quickly acquire the scientific principles, the medical knowledge, and the psychosocial skills that will be necessary for the successful introduction of genomic medicine. Busy practitioners will desperately need an authoritative source of information that includes both principles and specific applications. The introduction of this textbook, with its distinguished and authoritative list of contributors, thus arrives in the nick of time. Welcome to the genome era. * Francis S. Collins, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA * ...the book is a nice overview of developments in different fields of genomic medicine, written by a number of experts who give a thorough description of their argument. * European Journal of Human Genetics * Genomics and Clinical Medicine could be used during the first or second year of medical school to provide an underpinning of genomics as a unifying theme to the diverse array of topics that are typically taught at this time. * New England Journal of Medicine * This is a pioneering work of two doctors who as editors, have undertaken a monumental project, compiling a lot of relatively new knowledge put on paper by a total 50 pioneers in genomic medicine. All the authors and Drs. Kumar and Eng are to be congratulated for this unique, massive contribution to better understanding of disease so that eventually, millions of people can benefit from their work, to lead healthier lives. * Biz India Book Review *

Foreword vii
Stylianos Antonarakis
Foreword to the First Edition ix
Francis S. Collins
Preface to the First Edition xi
Dhavendra Kumar
Preface xv
Dhavendra Kumar
Charts Eng
Acknowledgements xvii
Dhavendra Kumar
Charts Eng
PART I PRINCIPLES OF GENOMIC MEDICINE
1 Genes, genetics, and human genomics
3(10)
Dhavendra Kumar
2 The human genome---structure and organization
13(14)
Andrew P. Read
3 Human proteomics
27(12)
Brian Morrissey
Lisa Staunton
Stephen R. Pennington
4 Epigenetics, epigenomics, and human disease
39(22)
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
61(22)
Dhavendra Kumar
6 Bioinformatics, systems biology, and systems medicine
83(14)
Binay Panda
Neeraja M. Krishnan
7 Pharmacogenomics---critical component of genomic medicine
97(17)
Wolfgang Sadee
8 New drug development, drug response, and precision medicines
114(17)
Michelle Penny
Duncan McHale
9 Mitochondrial genetics and genomics in clinical medicine
131(17)
Agnes Rotig
Dhavendra Kumar
10 Genomics technology in clinical diagnostics
148(19)
Kevin White
Jeremy Segal
11 Microbial genomics: targeted antimicrobial therapy and genome vaccines
167(13)
Immaculada Margarit
Rino Rappuoli
12 Nutritional genomics
180(30)
Zhenglong Gu
Kaixiong Ye
Patrick J. Stover
13 Genomics in public and population health
210(8)
Anastasia L. Wise
Teri A. Manolio
14 Genetic testing and genomic screening
218(17)
Angus John Clarke
15 Biobanking for genomics-based translational medicine
235(7)
Steven J. Madore
16 Genetics and genomics education: the path from helix to health
242(8)
Reed E. Pyeritz
17 Ethical, legal, and social issues in clinical genomics
250(9)
Caroline F. Wright
Anna Middleton
Michael Parker
18 The regulation of human genomics research
259(10)
Jane Kaye
PART II GENOMICS IN CLINICAL PRACTICE
19 Genetic and genomic approaches to clinical medicine
269(25)
Dhavendra Kumar
20 Genetic and genomic taxonomy of human disease
294(22)
Dhavendra Kumar
21 Genomics of complex cardiovascular disease
316(21)
Foram N. Ashar
Dan E. Arking
22 Genomics of type 2 diabetes mellitus and obesity
337(15)
Venkatesan Radha
Viswanathan Mohan
23 Genetics and genomics of osteoporosis and related disorders
352(17)
Yoshiji Yamada
24 Genetics and genomics of chronic kidney disease
369(24)
Albert C. M. Ong
Alexander P. Maxwell
25 Genetics and genomics in clinical hematology, I: Hemostasis and thrombosis
393(11)
John H. McVey
26 Genetics and genomics in clinical hematology, II: Inherited disorders of hemoglobin
404(8)
Sir David J. Weatherall
27 Genetic and genomics in clinical hematology, III: Acute leukemias
412(19)
Kenneth Mills
28 Genetics and genomics of chronic inflammatory disorders, I: Inflammatory bowel disease
431(17)
Saad Pathan
Derek P. Jewell
29 Genetics and genomics of chronic inflammatory disorders, II: Rheumatoid arthritis and related arthropathies
448(14)
Kate McAllister
Stephen Eyre
30 Genetics and genomics of chronic inflammatory disorders, III: Bronchial asthma
462(11)
William Cookson
31 Genetics and genomics of neuro-psychiatric diseases, I: Seizure disorders
473(14)
William Owen Pickrell
32 Genetics and genomics of neuro-psychiatric diseases, II: Multiple sclerosis
487(21)
Katharine Harding
Neil Robertson
33 Genetics and genomics of neuro-psychiatric diseases, III: The common dementias
508(13)
Amy Gerrish
Rebecca Sims
Julie Williams
34 Genetics and genomics of neuro-psychiatric diseases, IV: Schizophrenia and bipolar disorder
521(9)
Jinbo Fan
35 Genetics and genomics of neuro-psychiatric diseases, V: Learning and behavioral disorders
530(11)
F. Lucy Raymond
36 Clinical cancer genomics
541(24)
Joanne Ngeow
Charis Eng
37 Genomics and infectious diseases: susceptibility, resistance, response, and antimicrobial therapy
565(26)
Michaela Fakiola
Wei Lu
Sarra E. Jamieson
Christopher S. Peacock
38 Genomic perspectives of clinical immunology
591(12)
Cornelius L. Verweij
39 Genomic applications in clinical pediatrics
603(20)
Vinod Cherian Varghese
Sian Morgan
Ian Fray Ling
40 Genetics and genomics in clinical ophthalmology, I: The spectrum of genetic eye disease
623(13)
Graeme Charles M. Black
41 Genetics and genomics in clinical ophthalmology, II: Glaucoma
636(16)
Roshanak Sharafieh
Anne H. Child
Mansoor Sarfarazi
42 Genetics and genomics in clinical ophthalmology, III: Age-related macular degeneration
652(11)
Mark E. Kleinman
Jayakrishna Ambati
43 Genomic applications in audiological medicine
663(20)
Daphne Karfunkel-Doron
Zippora Brownstein
Karen B. Avraham
44 Genetics and genomics of skin diseases I: Atopic dermatitis and other skin complex diseases
683(13)
Nilesh Morar
45 Genetics and genomics of skin diseases, II: Genomics of pigmentation and skin cancer
696(17)
Eugene Healy
46 The genetic and genomic practice of reproductive medicine
713(28)
Dhavendra Kumar
47 Stem cell genomics: Developmental competence
741(25)
Kyle M. Loh
Bing Lim
Lay Teng Ang
48 Genomic applications in critical care medicine
766(15)
Matthew C. Frise
Charles Hinds
Julian C. Knight
49 Molecularly targeted therapy for Mendelian disorders
781(7)
Mark Davies
Julian Roy Sampson
50 Glossary for genetic and genomic medicine
788(13)
Dhavendra Kumar
Index 801
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, ACS/Hardis Professor and Chairwoman of the Genomic Medicine Institute and Director of the Center for Personalized Genetic Healthcare, The Cleveland Clinic, Ohio, USA; Professor and Vice Chair of the Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, USA