Genomics and Clinical Medicine

Dhavendra Kumar and David Weatherall

An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.

Genomics and Clinical Medicine

Dhavendra Kumar and David Weatherall

Description

An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.

Genomics and Clinical Medicine

Dhavendra Kumar and David Weatherall

i. List of Contributors.
ii. Acknowledgements.
iii. Foreword.
iv. Preface.
v. Glossary: Selected terms and phrases in Genetics and Genomics.
SECTION 1: GENERAL GENOMICS.
1. From Genes to Genome- a historical perspective
2. The Human Genome - structure and organization
3. Human functional genomics and proteomics
4. Epigenomics and human disease
5. Genomic perspectives of human development
6. Genetic and Genomic approaches to Taxonomy of Human Disease
7. Genomic technologies
8. Nutritional genomics
9. Pharmacogenomics: drug development, drug response and precision medicines
SECTION 2: CLINICAL GENOMICS.
10. Clinical medicine in the Genome era- an introduction
11. Complex cardiovascular disorders
12. Diabetes mellitus and obesity
13. Chronic renal disease
14. Haemostasis and thrombosis
15. Disorders of platelets
16. Applications in Critical Care Medicine
17. Seizure disorders
18. Neurodegenerative disorders: Tauopathies and Synucleinopathies
19. Neuropsychiaric diseases I: Schizophrenia
20. Neuropsychiatric diseases II: Mood disorders
21. Asthma and Chronic Obstructive Pulmonary Disease
22. Inflammatory Bowel Disease
23. Cancer genomics: mechanisms, diagnosis and therapeutic implications
24
25. Infectious diseases: susceptibility, resistance, response, and anti-microbial therapy
26. Chronic inflammatory disorders
27. Immunological disorders
28. Applications in Clinical Pediatrics
29. Learning and behavioural disorders
30. Complex Ophthalmic disorders
31. Applications in Audiological Medicine
32. Complex skin diseases I: Psoriasis
33. Complex skin diseases II: Atopic dermatitis
34. Complex skin diseases III: Diseases of the epidermis and appendages, skin pigmentation and skin cancer
35. Osteoporosis and related disorders
36. Applications in Obstetrics & Gynaecology and Reproductive medicine
37. Stem cell genomics, Cell-based therapy and Regenerative medicine
SECTION 3: HEALTH GENOMICS.
38. Genomics and global health
39. Genetic testing and genomic screening
40. Ethical issues in human genomics
41. The regulation of human genomics research
Useful on-line genetic and genomic contact addresses.
Index.

Genomics and Clinical Medicine

Dhavendra Kumar and David Weatherall

Reviews and Awards

"The plan is a comprehensive attempt to cover the applications of genomics and related areas to clinical medicine. Dr. Kumar has read widely and thought carefully about current work in many areas of medicine. He has developed an excellent set of chapters with appropriate authors. The book will be of great interest to physician-scientists and biological scientists who want an overview of the current status of potential applications of genomics to medicine."--Arno Motulsky, Professor Emeritus (Active) of Medical Genetics, University of Washington

"Clearly, this is timely, and geneticists and clinicians both need a ready reference to the present state of the art. The outline is excellent. Spectacular individuals have been chosen for the chapters. Dhavendra Kumar is a very conscientious clinical geneticist and has the perspective of the application of these areas to put into practice. I think it would actually be a very useful and timely volume, and in fact I don't think there is anything similar available."--Judith Hall, Professor of Medical Genetics, University of British Columbia

"Genomics and Clinical Medicine has much to offer...[and] could be used during the first or second year of medical school to provide and underpinning of genomics as a unifying theme to the diverse array of topics that are typically taught at this time. Basic researchers and curious clinicians will also find a lot to learn and perhaps build on."--New England Journal of Medicine

"Genomics and Clinical Medicine has much to offer."--Mark S. Boguski, MD, PhD, Harvard Medical School, in New England Journal of Medicine

"Dr. Kumar is to be congratulated on having assembled such a distinguished group of contributors, and as Francis S. Collins in the Foreword mentions, such a book including both principles and specific applications of genetics and genomics to medicine is needed given the fact that the majority of physicians will have had little or no training in these areas."--Human Genetics