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..

Table of Contents

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..

Human Molecular Genetics has been carefully crafted over successive editions to provide an authoritative introduction to the molecular aspects of human genetics, genomics and cell biology.

Maintaining the features that have made previous editions so popular, this fifth edition has been completely updated in line with the latest developments in the field. Older technologies such as cloning and hybridization have been merged and summarized, coverage of newer DNA sequencing technologies has been expanded, and powerful new gene editing and single-cell genomics technologies have been added. The coverage of GWAS, functional genomics, stem cells, and disease modeling has been expanded. Greater focus is given to inheritance and variation in the context of populations and on the role of epigenetics in gene regulation.

Key features:

Fully integrated approach to the molecular aspects of human genetics, genomics, and cell biology

Accessible text is supported and enhanced throughout by superb artwork illustrating the key concepts and mechanisms

Summary boxes at the end of each chapter provide clear learning points

Annotated further reading helps readers navigate the wealth of additional information in this complex subject and provides direction for further study

Reorganized into five sections for improved access to related topics

Also new to this edition – brand new chapter on evolution and anthropology from the authors of the highly acclaimed Human Evolutionary Genetics

A proven and popular textbook for upper-level undergraduates and graduate students, the new edition of Human Molecular Genetics remains the ‘go-to’ book for those studying human molecular genetics or genomics courses around the world.

Table of Contents

Part 1: Basics of DNA, Chromosomes, Cells, Development, and Inheritance

1. Basic Principles of Nucleic Acid Structure and Gene Expression.

2. Fundamentals of Cells and Chromosomes.

3. Fundamentals of Cell-Cell Interactions and Immune System Biology.

4. Aspects of Early Mammalian Development, Cell Differentiation, and Stem Cells.

5. Patterns of Inheritance.

Part 2: Understanding Genomes

6. Core DNA Technologies: Amplifying DNA, Nucleic Acid Hybirdization, and DNA Sequencing.

7. Analyzing the Structure and Expression of Genes and Genomes.

8. Principles of Genetic Manipulation of Mammalian Cells.

9. Uncovering the Architecture and Workings of the Human Genome.

10. Gene Regulation and the Epigenome.

Part 3: Genetic Variation Between Individuals and Species

11. An Overview of Human Genetic Variation.

12. Human Population Genetics.

13. Comparative Genomics and Genome Evolution.

14. Human Evolution.

Part 4: Human Genetic Disease

15. Chromosomal Abnormalities and Structural Variants.

16. Molecular Pathology: Connecting Phenotypes to Genotypes.

17. Mapping and Identifying Genes for Monogenic Disorders.

18. Complex Disease: Identifying Susceptibility Factors and Understanding Pathogenesis.

19. Cancer Genetics and Genomics.

Part 5: Applied Human Molecular Genetics

20. Genetic Testing in Healthcare and the Law.

21. Model Organisms and Modeling Disease.

22. Genetic Approaches to Treating Disease.

Human Molecular Genetics has been carefully crafted over successive editions to provide an authoritative introduction to the molecular aspects of human genetics, genomics and cell biology. Maintaining the features that have made previous editions so popular, this fifth edition has been completely updated in line with the latest developments in the field. Older technologies such as cloning and hybridization have been merged and summarized, coverage of newer DNA sequencing technologies has been expanded, and powerful new gene editing and single-cell genomics technologies have been added. The coverage of GWAS, functional genomics, stem cells, and disease modeling has been expanded. Greater focus is given to inheritance and variation in the context of populations and on the role of epigenetics in gene regulation. Key features: Fully integrated approach to the molecular aspects of human genetics, genomics, and cell biology Accessible text is supported and enhanced throughout by superb artwork illustrating the key concepts and mechanisms Summary boxes at the end of each chapter provide clear learning points Annotated further reading helps readers navigate the wealth of additional information in this complex subject and provides direction for further study Reorganized into five sections for improved access to related topics Also new to this edition - brand new chapter on evolution and anthropology from the authors of the highly acclaimed Human Evolutionary Genetics A proven and popular textbook for upper-level undergraduates and graduate students, the new edition of Human Molecular Genetics remains the 'go-to' book for those studying human molecular genetics or genomics courses around the world.

Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how genetics and genomics affect the whole spectrum of human health and disease. DNA technologies are explained, with emphasis on the modern techniques that have revolutionized the use of genetic information in medicine and are 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. Cancers are essentially genetic diseases and are given a dedicated chapter that includes new insights into its molecular basis and approaches to its detection gained from cancer genomics. Specific topics, including multiple examples of clinical disorders, molecular mechanisms, and technological advances, are profiled in boxes throughout the text.