Download Thompson & Thompson Genetics and Genomics in Medicine (9th edition) by Ronald Cohn, Stephen Scherer and Ada Hamosh.
Thompson & Thompson Genetics and Genomics in Medicine (9th Edition) by Ronald Cohn, Stephen Scherer, and Ada Hamosh provides an in-depth look at the principles of genetics and genomics as they apply to medical practice and patient care. This updated edition explores fundamental genetic concepts alongside emerging genomic technologies, offering insight into how genetic and genomic information shapes diagnoses, treatments, and our understanding of inherited conditions.
Featuring case studies, clinical applications, and the latest in personalized medicine, the book serves as a crucial resource for medical students, healthcare professionals, and researchers navigating the evolving landscape of genetic medicine.
Since its first publication in 1966, Thompson & Thompson Genetics and Genomics in Medicine has become an indispensable resource for medical students, genetic counseling students, laboratory medicine trainees, and advanced learners. Focused on the fundamental principles of human genetics and genomics and their medical applications, the book has long served as a go-to reference for readers at every stage of their training.
This ninth edition continues to support students and professionals in both traditional and emerging fields, including genome data analysis, offering comprehensive coverage for basic science education, clinical rotations, and beyond. It incorporates the latest discoveries—such as the roles of non-coding RNAs, chromatin regulation, and epigenetics—as well as advanced technologies and new diagnostic approaches they enable.
With an expanded title and fully updated content, this edition has been re-envisioned by a new editorial team and supported by contributing authors. It also features enhanced illustrations, including vivid images of individuals affected by genetic conditions, making it an invaluable resource for understanding genetics and genomics in modern medicine.
The latest edition features updated and new clinical cases, accompanied by photography from the non-profit organization Positive Exposure.
It includes fresh content on the expanding role of sequencing and novel functional assays in the diagnosis and screening of genetic conditions.
A new chapter on epigenetics has been added, along with clearer and more precise terminology to align with contemporary and evolving guidelines.
Additionally, there are new sections that emphasize the importance of utilizing genetic information from diverse populations, including unique indigenous and founder populations, for effective diagnosis and management.
Contents
- Introduction
- Introduction to the Human Genome
- The Human Genome: Gene Structure and Function
- Human Genetic Diversity: Genomic Variation
- Principles of Clinical Cytogenetics and Genome Analysis
- The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes
- Patterns of Single-Gene Inheritance
- Principles of Clinical Epigenetics
- Complex Inheritance of Common Multifactorial Disorders
- Population Genetics for Genomic Medicine
- Identifying the Genetic Basis for Human Disease
- The Molecular Basis of Genetic Disease
- The Molecular, Biochemical, and Cellular Basis of Genetic Disease
- The Treatment of Genetic Disease
- Developmental Genetics and Birth Defects
- Cancer Genetics and Genomics
- Genetic Counseling and Risk Assessment
- Preconception and Prenatal Screening and Diagnosis
- Application of Genomics to Medicine and Individualized Health Care
- Ethical and Social Issues in Genetics and Genomics
- Clinical Case Studies Illustrating Genetic Principles
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