The New Clinical Genetics

Author: Read, Andrew


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  • ISBN: 9781904842316
  • Author: Read, Andrew
  • Publ Date: 2006-10-01
  • Edition:
  • Pages: 450
  • Imprint:
  • Status: O/P
  • ID - 70053

Table of Contents :

1. What can we learn from a family history? 2. How can a patient' s chromosomes be studied? 3. How do genes work? 4. How can a patient' s DNA be studied? 5. How can we check a patient's DNA for gene mutations? 6. What do mutations do? 7. What is epigenetics? 8. How do genes affect our metabolism, drug responses and immune system? 9. How do researchers identify genes for mendelian diseases? 10. Why are some conditions common and others rare? 11. When is screening useful? 12. Is cancer genetic? 13. Should we be testing for genetic susceptibility to common disease? 14. What can we do about genetic disease? Glossary


Aimed at medical students, genetic counsellors and clinical geneticists, this book provides the reader with a concise summary of post-genomic human genetics and guidance as to how our current understanding can be utilized in clinical practice. The book links genetics and clinical practice throughout using realistic case scenarios which are discussed throughout the book. Readers can take a problem-based approach to learning by working through each of the cases, or a more conventional approach by tackling each of the chapters in the order dictated by their course. The authors have based the book around the requirements of the NHS genetics education centre and the ASHG: which state that 'every physician who practices in the 21st century must have an in-depth knowledge of the principles of human genetics and their application to a wide variety of clinical problems'. The book benefits from a carefully designed format and layout to aid understanding. Each chapter includes self-assessment questions, separate boxes containing diagnostic methods and approaches, and common disease boxes. There are over 300 clinical photograph and figures, to further illustrate the points being discussed. Printed in full-colour throughout.


..this book is a very valuable tool that will be used by future geneticists all over Europe and beyond,both as a teaching material and as a source of excellent knowledge' European Journal of Human Genetics 'The case studies emphasize the important and complex role of the clinical geneticist, something which many, even those otherwise well informed, may not fully understand. In fact, this stimulating volume may well entice more students into our exciting and expanding speciality. I would whole-heartedly recommend this book.' The Ulster Medical Journal 'I just taught with this text. It is the best text I have seen. The relevance of genetics to human medicine was apparent and it really caught the interest of the students without watering things down to the point where there were clinical vignettes, but no substantial learning opportunities in genetics to build the foundation that our students need. My hat is off to the authors and their unique design. We will certainly use the book again.' -- Professor Geoffrey Kapler Department of Molecular and Cellular Medicine, Texas A&M Health Science Center

Author Biography:

Andrew Read is Professor of Human Genetics at the University of Manchester, UK. He is co-author of the best-selling textbook Human Molecular Genetics. He established one of the first molecular diagnostic services in the UK and has a long-standing interest in what genetic testing can, and should, achieve Dian Donnai is Professor of Medical Genetics at the University of Manchester, UK and Consultant Clinical Geneticist for the North West Regional Genetics Service. She is one of the world's leading authorities on clinical genetics, especially the study of dysmorphic syndromes and she is an advisor to many national and international bodies on the clinical application of genetics.


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