Emery’s Elements of Medical Genetics: With STUDENT CONSULT Online Access, 14e

Emery’s Elements of Medical Genetics: With STUDENT CONSULT Online Access, 14e
  • Author: Peter D Turnpenny BSc MB ChB FRCP FRCPCH
    Publisher: Churchill Livingstone
    Genres: Medical
    Publish Date: March 15, 2011
    ISBN-10: 0702040436
    Pages: 464
    File Type: PDF
    Language: English

Book Preface

Since the publication of the thirteenth edition of Emery’s Elements of Medical Genetics there has been a huge surge forward in our knowledge and understanding of the human genome as the technology of microarray comparative genomic hybridization has been extensively applied, both in research and clinical service settings. We know so much more about the normal variability of the human genome as the extent of copy number variants (of DNA) has become clearer, though we are still trying to unravel the possible significance of these in relation to health and disease. And as we write this there is great excitement about the next technological revolution that is underway, namely next generation sequencing. Already there are dramatic examples of gene discovery in mendelian conditions through analysis of the whole exome of very small numbers of patients with clear phenotypes. There is also more realistic anticipation than before that breakthroughs will be made in the treatment of genetic disease, which will take a variety of different forms. Whilst discovery and knowledge proceed apace, however, the foundation for those who aspire to be good clinical practitioners in this field lies in a thorough grasp of the basics of medical genetics, which must include the ability to counsel patients and families with sensitivity and explain difficult concepts in simple language.

In this fourteenth edition of Emery’s Elements of Medical Genetics we have tried to simplify some of the language and reduce redundant text where possible, to make way for some new, updated material. Several chapters have undergone significant revisions, and the range of illustrations has increased. We have listened to those colleagues (a small number!) who identified one or two errors in the last edition and also suggested ideas for improvement. Once again, we have sought to provide a balance between a basic, comprehensive text and one that is as up to date as possible, still aiming at medical undergraduates and those across both medical and non-medical disciplines who simply want to “taste and see.” The basic layout of the book has not changed because it seems to work well, and for that we remain in debt to our predecessors in this project, namely Alan Emery,

Bob Mueller, and Ian Young.
Peter D. Turnpenny and Sian Ellard
Exeter, United Kingdom
November 2010

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