Emery’s Elements of Medical Genetics (15th Edition)

Description

Everything a student needs to know about medical genetics is here in the 15th edition of this award-winning textbook.

Thoroughly updated and revised throughout to map a fast-moving area, the 15th edition continues Emery’s enviable reputation for successfully balancing up-to-dateness in a rapidly developing field with a strong basis in practical clinical genetics for medical students. With MCQs and Case-Based Review Questions, end of chapter summaries and convenient online access, it is the essential tool for this complex but foundational topic for all medical undergraduates, as well as postgraduates seeking to improve their understanding and knowledge.

Key Features

• On StudentConsult, giving you two books for one. Download your StudentConsult e-book to your laptop or mobile for portability and 24-7 access.
• Divided into three restructured sections to make the book easier to use for a variety of readers: Scientific Basis of Human Genetics; Genetics in Medicine and Genomic Medicine; Clinical Genetics, Counselling and Ethics
• Interactive self-assessment questions
• Case-based questions
• Online hyperlinks to important genetics websites and clinical databases.
• Update of clinical figures to include more full-colour images
• An extensive glossary of terms
• Full colour art to visualise the appearance of genetic disorders and assist with the understanding of complex genetic structures
• Explore the social, ethical and counselling issues surrounding the study and treatment of genetic disorders.
• Elements boxes at the end of each chapter summarizing the basics at a glance.

Table of Contents

1. Preface
2. Introduction
3. The history and impact of genetics in medicine
4. A. The Scientific Basis of Human Genetics
   1. The cellular and molecular basis of inheritance
   2. Chromosomes and cell division
   3. Finding the cause of monogenic disorders by identifying disease genes
   4. Laboratory techniques for diagnosis of monogenic disorders
   5. Patterns of inheritance
   6. Population and mathematical genetics
   7. Risk calculation
   8. Developmental genetics
5. B. Genetics in Medicine and Genomic Medicine
   1. Common disease, polygenic and multifactorial genetics
   2. Screening for genetic disease
   3. Hemoglobin and hemoglobinopathies
   4. Immunogenetics
   5. The genetics of cancer … and cancer genetics
   6. Pharmacogenetics, personalised medicine, and the treatment of genetic disease
6. C. Clinical Genetics, Counseling and Ethics
   1. Congenital abnormalities, dysmorphic syndromes, and learning disability
   2. Chromosome disorders
   3. Inborn errors of metabolism
   4. Mainstream monogenic disorders
   5. Prenatal testing and reproductive genetics
   6. Genetic counseling
   7. Ethical and legal issues in medical genetics
7. Glossary
8. Appendix of websites
9. MCQs
10. Case-Based Qs
11. MCQ Answers
12. Case-Based Q Answers
13. Index

Authors Biography

Peter Turnpenny

Affiliations and Expertise
Consultant Clinical Geneticist, Royal Devon and Exeter Hospital Senior Clinical Lecturer, Peninsula Medical School, Exeter, UK

Sian Ellard

Affiliations and Expertise
Consultant Clinical Molecular Geneticist, Royal Devon and Exeter Hospital Professor of Human Molecular Genetics, Peninsula Medical School, Exeter, UK