1. Emery's Elements of Medical Genetics is a renowned textbook that provides a comprehensive overview of the principles and applications of medical genetics. The 14th edition, published in 2021, offers updated information on the rapidly evolving field of genetics and its impact on medical practice.

   The book begins by laying a strong foundation in genetic principles, covering topics such as DNA structure and function, gene expression, and the principles of inheritance. It then delves into the various molecular techniques and technologies used in genetic research and clinical practice, including next-generation sequencing, gene editing, and genetic testing methodologies.

   One of the key focuses of the book is the clinical application of medical genetics. It explores how genetics is integrated into medical practice, including genetic counseling, prenatal and reproductive genetics, and the diagnosis and management of genetic disorders. The authors provide insights into the latest approaches to genetic diagnosis, including the interpretation of genetic testing results and the role of genetic variation in disease susceptibility.

   In addition to the scientific aspects, Emery's Elements of Medical Genetics also addresses the ethical, legal, and social implications of genetics. It examines issues such as genetic discrimination, genetic privacy, and the impact of genetic technologies on society. The book underscores the importance of ethical considerations in the field of medical genetics and encourages thoughtful reflection on the ethical dilemmas that arise.

   Throughout the book, clinical case studies, illustrations, and tables are used to enhance understanding and illustrate key concepts. The inclusion of review questions at the end of each chapter enables readers to assess their comprehension and reinforce their learning.

   Written by esteemed experts in the field, Emery's Elements of Medical Genetics 14th edition serves as a valuable resource for medical students, genetic counselors, physicians, and other healthcare professionals involved in the care of individuals and families affected by genetic disorders. It equips readers with the knowledge and skills needed to navigate the rapidly evolving landscape of medical genetics and make informed decisions in clinical practice.

    

1. Master the genetics, you need to know with the updated 14^th edition of emery’s elements of medical genetics by Drs peter Turnpenny and sian Ellard . Review the field latest and most important topic with user-friendly coverage designed to help you better understand and apply the basic principles of genetics, to clinical situations. Learning is easy with the aid of char, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case based review questions, end-of-chapter summaries, and convenient online access, at student consult.com. With this highly visual, award-winning classics in your hands, you have all the genetics knowledge you need for exam or practices

1. Comprehensive coverage of genetic principles: The book provides a thorough understanding of the fundamental principles of genetics, including DNA structure and function, gene expression, and inheritance patterns.

   Up-to-date information on genetic testing and technologies: The latest advances in genetic testing and technologies are covered, including next-generation sequencing, CRISPR-Cas9 gene editing, and gene therapy.

   Clinical applications of medical genetics: The book emphasizes the clinical application of medical genetics, including genetic counseling, diagnosis, and treatment of genetic disorders.

   Inclusion of ethical and social issues: The book includes discussions on ethical and social issues related to medical genetics, such as genetic discrimination, privacy, and the impact of genetics on society.

   Pedagogical tools: The book includes various pedagogical tools such as clinical case studies, review questions, and online resources, which help readers to understand and apply the concepts effectively.

   Contributions from leading experts: The book is authored by leading experts in the field of medical genetics, providing readers with the most current and accurate information available.

   Overall, Emery's Elements of Medical Genetics 14th edition is a comprehensive and up-to-date resource for anyone interested in the field of medical genetics.

Emery's Elements of Medical Genetics was published in 2021, and it covers the latest developments and discoveries in the field of medical genetics. The book provides comprehensive coverage of genetic principles, genetic counseling, and clinical genetics, making it an essential resource for medical students, genetic counselors, and healthcare professionals who work with patients and families affected by genetic disorders.

A student who 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.
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, Counseling, and Ethics.

“A man ought to read just as inclination leads him; for what he reads as a task will do him little good.”---Dr. Samuel Johnson

Advances and breakthroughs in genetic science are continually in the news, attracting great interest because of the potential, not only for diagnosing and eventually treating disease but also for what we learn about humankind through these advances. In addition, almost every new breakthrough raises a fresh ethical, social, and moral debate about the uses to which genetic science will be put, particularly in reproductive medicine and issues relating to identity and privacy. Increasingly, today’s medical graduates, and mature postgraduates,
must be equipped to integrate genetic knowledge and science appropriately into all areas of medicine, for the task cannot be left solely to clinical geneticists, who remain small in number; indeed, in many countries, there is either no structured training program in clinical genetics or the specialty is not recognized at all.

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 diseases, 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 languages and reduce the 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