Genetics and Genomics in Medicine

1. Fundamentals of DNA, Chromosomes, and Cells
2. Fundamentals of Gene Structure, Gene Expression, and Human Genome Organization
3. Principles Underlying Core DNA Technologies
4. Principles of Genetic Variation
5. Single-gene Disorders: Inheritance Patterns, Phenotype Variability, and Allele Frequencies
6. Principles of Gene Regulation and Epigenetics
7. How Genetic Variation in DNA and Chromosomes Causes Disease
8. Identifying Disease Genes and Genetic Susceptibility to Complex Disease
9. Genetic Approaches to Treating Disease
10. Cancer Genetics and Genomics
11. Genetic and Genomic Testing in Healthcare: Practical and Ethical Aspects

The second edition of this textbook written for undergraduate students, graduate students and medical researchers, Genetics and Genomics in Medicine explains the science behind the uses of genetics and genomics in medicine today, and how it is being applied.

Maintaining the features that made the first edition so popular, this second edition has been thoroughly updated in line with the latest developments in the field. DNA technologies are explained, with emphasis on the modern techniques that are revolutionizing the use of genetic information in medicine and indicating the role of genetics in common diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. A dedicated chapter charts the latest insights into the molecular basis of cancers, cancer genomics and novel approaches to cancer detection. Coverage of genetic testing at the level of genes, chromosomes and genomes has been significantly expanded and updated. Extra prominence has been given to additional genomic analyses, ethical aspects, and novel therapeutic approaches. Various case studies illustrate selected clinical applications.

Key Features

• Comprehensive and integrated account of how genetics and genomics affect the entire spectrum of human health and disease
• Exquisite artwork illuminates the key concepts and mechanisms
• Summary points at the end of each chapter help to consolidate learning
• For each chapter, an abundance of further reading to help provide the reader with direction for further study
• Inclusive online question bank to test understanding
• Standard boxes summarizing certain key principles in genetics
• Clinical boxes summarizing selected case studies, pathogenesis mechanisms or novel therapies for selected diseases

This book is equally suited for newcomers to the field as well as for engineers and scientists that have basic knowledge in this field but are interested in obtaining more information about specific future applications.

Author(s)

Biography

Tom Strachan is Emeritus Professor of Human Molecular Genetics at Newcastle University, UK. Together with a former colleague, Andrew Read, he writes the popular Human Molecular Genetics textbook, now in its Fifth Edition.

Anneke Lucassen is Professor of Genomic Medicine and Director of the Centre for Personalised Medicine at the University of Oxford, UK