Medical Genetics

ABOUT THIS BOOK

• Widely-praised writing style makes this often-daunting subject truly accessible to the reader.
• Over 150 colour illustrations demonstrate important principles and commonly encountered genetic disorders.
• Brief reviews of major landmark publications provide an historical context for more contemporary developments.
• Clinically-related vignettes cover controversial issues, such as gene patenting and the UK Biobank.
• Case histories and brief biographies of famous figures from history and the arts tell the reader about those who have suffered from, and successfully coped with, a genetic disorder.

Highly Commended in the 2006 BMA Medical Book Competition (Basic and clinical sciences)

Medical Genetics provides medical and biomedical science students with an understanding of the basic principles of human genetics as they relate to clinical practice. Each of the initial chapters focuses on a traditional cornerstone of human genetics (molecular genetics, cytogenetics, Mendelian inheritance, polygenic inheritance, population genetics) with a major emphasis on clinical relevance. These are followed by consideration of subjects of specific medical importance such as the haemoglobinopathies, developmental genetics, cancer genetics and pharmacogenetics, with due attention to topical and evolving issues such as pharmacogenomics, gene therapy and therapeutic cloning. The final chapters provide an explanation of the genetically related clinical skills and competencies expected of a medical student, together with an overview of the principles of clinical genetics, a rapidly developing clinical specialty which now impinges on almost every aspect of medical practice.

Online Resource Centre

Medical Genetics is accompanied by an extensive Online Resource Centre, which offers a wealth of additional materials, including:

· Multiple Choice Questions and Extended Matching Questions, to help you test your knowledge of each chapter of the book
· Hyperlinked bibliography offering direct links to online articles cited in the book
· Case Celebres: additional case celebres to those in the book
· OMIM Database Links, providing hyperlinks to the NIH's database of genetic diseases
· Pedigree Examples, giving guidance on constructing family trees
· Bonus material from other seminal genetics titles published by Oxford University Press

Readership: Aimed primarily at undergraduate medical and biomedical science students, this book should also appeal to genetic counsellors, and specialist nurses working in clinical genetics.

AUTHOR INFORMATION

Ian D Young, Consultant Clinical Geneticist, Department of Clinical Genetics, Leicester Royal Infirmary, UK

REVIEWS

"Ian Young has achieved the near-impossible, conveying the fascination of genetics whilst painlessly guiding the reader through the complexities beneath the surface. " - Samantha Leonard, Human Genetics

"A must have book for medical students and others who want to get a thorough insight into the complexity of genetics as applied to medicine. " - Claude Stoll, European Journal of Human Genetics

TABLE OF CONTENTS

1: Gene structure and function
2: Chromosomes and cell division
3: Common chromosome disorders
4: Single-gene (Mendelian) inheritance
5: Identifying genes for Mendelian diseases
6: Polygenic inheritance and complex diseases
7: Genes and populations
8: Genes and haemoglobin
9: Genes and development
10: Genes and cancer
11: Genes and biochemistry
12: Genes and drugs and treatment
13: Clinical skills and scenarios
14: Applied clinical genetics