New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine. New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding. Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking. Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders. The unique case-based structure and format remains the same, but substantial new material has been added to cover: polygenic risk scores - now starting to become useful clinical service tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient's whole exome for the cause of their problem

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.

This book elucidates comprehensive, application-based knowledge in the field of human genetics from a scientific (Read) and clinical (Donnai) perspective. The respected authors, marvelous illustrations, the unique didactic structure and comprehension questions (with answers) have propelled this title on to the lists of numerous leading universities - including Harvard Medical School - in Britain and the USA. The editors of this licensed edition have adapted the translation to German circumstances and have added an additionalcase on sterility.

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.

This book offers university teachers informed and practical strategies for raising awareness of bias in teaching, learning and assessment practices. Conscious and unconscious biases influence judgements, perceptions, decision making and actions, and societal awareness has now turned the spotlight on how higher education (HE) is addressing bias at institutional and individual levels. The urgency to do so is evidenced through recent studies which reveal the extent of the effects of discrimination and exclusion experienced by individual students, groups of students and members of staff. It can be difficult to know where to start and how to sustain effective impact to achieve inclusion, equity and equality of opportunity. This book offers informed and practical strategies for raising awareness of bias in teaching, learning and assessment practices and provides approaches to eliminate, limit and mitigate the negative effects of bias on university students.