First published in 1966, Thompson and Thompson Genetics and Genomics in Medicine has become an essential textbook for medical students, genetic counseling students, students in laboratory medicine, and more advanced trainees. With its focus on fundamental principles in human genetics and genomics and their application to medicine, the book has served many as a well-thumbed resource they return to over and over.
Such students can continue to depend on this valuable text, joining those in newer fields of genome data analysis for all they need to know about genetics and genomics throughout their basic science training, clinical placements and beyond. Coverage includes new discoveries-such as the functional roles of non-coding RNAs, chromatin regulation and epigenetics-latest technologies, and new diagnoses they are enabling.
Under an expanded title, this ninth edition has been completely revised by a new editorial team overseeing a large cadre of contributing authors. Support groups have also assisted to update illustrations featuring beautiful images of those living with genetic conditions.
- Comprehensive coverage of: genomes in biology and medicine; copy number and structural genomic variation; novel discoveries; latest technology; and new genetic diagnoses
- Over 40 clinical case studies, capturing the latest challenges of variable expression, pleiotropy, and complex disorders through new diagnostic strategies
- Full-color text, illustrations, updated line diagrams, and clinical photos
- End-of-chapter questions and comprehensive answers to challenge the reader to consolidate the material into practice and prepare for examinations
- USMLE-style and multiple choice questions available as part of the eBook
- An enhanced eBook version is included with purchase. The eBook allows you to access all the text, figures and references, with the ability to search, customize your content, make notes and highlights, and have content read aloud
- Updated and new clinical cases, supported with photography by the not-for-profit organization, Positive Exposure
- New content on growing role of sequencing and novel functional assays in diagnosis and screening of genetic conditions
- New chapter on Epigenetics
- Clearer and more precise terminology, in response to contemporary and evolving guidelines
- New sections describing the use (and need for) genetic information from diverse populations, including unique indigenous and founder populations, for diagnosis and management.
Table of Contents
CHAPTER 1 IntroductionCHAPTER 2 Introduction to the Human Genome
CHAPTER 3 The Human Genome: Gene Structure and Function
CHAPTER 4 Human Genetic Diversity: Genomic Variation
CHAPTER 5 Principles of Clinical Cytogenetics and Genome Analysis
CHAPTER 6 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes
CHAPTER 7 Patterns of Single-Gene Inheritance
CHAPTER 8 Principles of Clinical Epigenetics
CHAPTER 9 Complex Inheritance of Common Multifactorial Disorders
CHAPTER 10 Population Genetics for Genomic Medicine
CHAPTER 11 Identifying the Genetic Basis for Human Disease
CHAPTER 12 The Molecular Basis of Genetic Disease
CHAPTER 13 The Molecular, Biochemical, and Cellular Basis of Genetic Disease
CHAPTER 14 The Treatment of Genetic Disease
CHAPTER 15 Developmental Genetics and Birth Defects
CHAPTER 16 Cancer Genetics and Genomics
CHAPTER 17 Genetic Counseling and Risk Assessment
CHAPTER 18 Preconception and Prenatal Screening and Diagnosis
CHAPTER 19 Application of Genomics to Medicine and Individualized Health Care
CHAPTER 20 Ethical and Social Issues in Genetics and Genomics
Clinical Case Studies Illustrating Genetic Principles
Glossary
Answers to Problems
Index
