Key Features
- Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review.
- Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics.
- Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics
- Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures.
- Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more.
- Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver.
- Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
1 The History and Impact of Genetics in Medicine
Section A: The Scientific Basis of Human Genetics
2 The Cellular and Molecular Basis of Inheritance
3 Chromosomes and Cell Division
4 Finding the Cause of Monogenic Disorders by Identifying Disease Genes
5 Laboratory Techniques for Diagnosis of Monogenic Disorders
6 Patterns of Inheritance
7 Population and Mathematical Genetics
8 Risk Calculation
9 Developmental Genetics
Section B: Genetics in Medicine and Genomic Medicine
10 Common Disease, Polygenic and Multifactorial Genetics
11 Screening for Genetic Disease
12 Haemoglobin and the Haemoglobinopathies
13 Immunogenetics
14 The Genetics of Cancer and Cancer Genetics
15 Pharmacogenomics, Precision Medicine and the Treatment of Genetic Disease
Section C: Clinical Genetics, Counselling and Ethics
16 Congenital Abnormalities, Dysmorphic Syndromes and Intellectual Disability
17 Chromosome Disorders
18 Inborn Errors of Metabolism
19 Mainstream Monogenic Disorders
20 Prenatal Testing and Reproductive Genetics
21 Genetic Counselling
22 Ethical and Legal Issues in Medical Genetics
This is a fantastic book and is very relevant to genomic education. The case studies help provide context to the conditions, supporting 'real world' application from theory to practice. It is comprehensive essential for anyone teaching or studying Genomic Medicine in healthcare.
Well-structured with current information on genetics from a medical perspective.
This is an excellent book which starts the reader from the basics and build upon the detail as you progress through the book
This is an excellent resource, the longevity of it's publication is a testament to the quality of the content, the accessibility for students and the clarity with which concepts are illustrated.
This is an excellent resource, the longevity of it's publication is a testament to the quality of the content, the accessibility for students and the clarity with which concepts are illustrated.
This is good book of Medical genetics. It needs to be improved since very basic topics are described nicely (first chapters) but some are very confusing and difficult to study (clinical part). It need to include chapter on bioinformatics.
Lo que he visto me gusta, es un libro actualizado, muy claro y fácil de leer.
A welcome update to a long established key text. However, would like to see more about genomics. Perhaps an additional chapter at the end on how genomics is being integrated into the NHS with reference to the 100,000 Genomes Project, infrastructure (Genomics Medicine Service, etc), and current developments (Genome UK).
Es un excelente libro con una lenguaje dinámico y asertivo. Con muy buenas imagenes y con referencias actualizadas. Abordaje de todos los capitulos con gran claridad, útil para la compresiòn de muchos de los aspectos clínicos.
Up-to-date and easy to follow. Perfact illustrations. Very useful and a must-read for undergraduate students, first year residents and postgraduates who wants to learn about fundamentals of medical genetics and genomics.