Jack J. Pasternak
The Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries. Using a unique, systems-based approach, the text offers readers a thorough explanation of the gene discovery process and how defective genes are linked to inherited disease states in major organ and tissue systems. All the latest developments in functional genomics, proteomics, and microarray technology have been thoroughly incorporated into the text.
The first part of the text introduces readers to the fundamentals of cytogenetics and Mendelian genetics. Next, techniques and strategies for gene manipulation, mapping, and isolation are examined. Readers will particularly appreciate the text's exceptionally thorough and clear explanation of genetic mapping. The final part features unique coverage of the molecular genetics of distinct biological systems, covering muscle, neurological, eye, cancer, and mitochondrial disorders. Throughout the text, helpful figures and diagrams illustrate and clarify complex material.
Readers familiar with the first edition will recognize the text's same lucid and engaging style, and will find a wealth of new and expanded material that brings them fully up to date with a current understanding of the field, including:
* New chapters on complex genetic disorders, genomic imprinting, and human population genetics
* Expanded and fully revised section on clinical genetics, covering diagnostic testing, molecular screening, and various treatments
This text is targeted at upper-level undergraduate students, graduate students, and medical students. It is also an excellent reference for researchers and physicians who need a clinically relevant reference for the molecular genetics of inherited human diseases.
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, Counselling and Ethics
•Interactive self-assessment questions
•Online hyperlinks to important genetics websites and clinical databases.
•Update of clinical figures to include more full-colour images
•An extensive glossary of terms
•Full colour art to visualise the appearance of genetic disorders and assist with the understanding of complex genetic structures
•Explore the social, ethical and counselling issues surrounding the study and treatment of genetic disorders.
•Elements boxes at the end of each chapter summarizing the basics at a glance.
Features mini-summaries, study questions, suggested reading, and a detailed glossary to supplement and reinforce what you learn from the text.
Demonstrates clinical relevance through over 230 photographs, illustrations, and tables, along with boxes containing patient/family vignettes.Enhances the visual impact of the material with full-color illustrations throughout the text for easier and more effective learning and retention.
Presents a new chapter on genomics and personalized medicine for the latest on these hot topics.
Provides you with the latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics.
Includes study questions at the end of every chapter so you can test yourself and retain the material.
Features additional clinically commentary boxes throughout the text to show the relevance of genetics to everyday patient problems to prepare you for problem-based integrated courses.
Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders.
This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes.
Essential Medical Genetics is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book).
The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions.
This title is also available as a mobile App from MedHand Mobile Libraries. Buy it now from iTunes, Google Play or the MedHand Store.
Todayís nurses must be able to ìthink geneticallyî to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics. It focuses on the provision of individualized patient care based on personal genetics and dispositions. The second edition is designed for use by advanced practice nursing programs, as well as undergraduate programs. It pinpoints new developments in prenatal, maternity, and pediatric issues and supplies new information on genomics-based personal drug therapy, environmental susceptibilities, genetic therapies, epigenetics, and ethics
The text features a practical, clinically oriented framework in line with the core competencies defined by the AACN. It delivers information according to a lifespan approach used in the practice setting. The second edition continues to provide basic information on genomics, its impact on healthcare, and genetic disorders. It covers prevention, genetic counseling and referral, neuropsychiatric nursing, and public health. The core of the text presents information on a variety of diseases that affect patients throughout the lifespan, with specific guidance on the nursing role. Also included are tests for a variety of diseases and information on pharmacogenomics, which enable health care providers to select the best drugs for treatment based on a patientís genetic makeup. Plentiful case study examples support the information throughout. Additionally, an instructorís package of PowerPoint slides and a test bank are provided for use at both the graduate and undergraduate levels.
New to the Second Edition:
Completely updated with several new chapters
Personal drug therapy based on genomics
Prenatal detection and diagnosis
Newborn and genetic screening
Content for graduate-level programs
PowerPoint slides and a test bank for all student levels
Encompasses state-of-the-art genomics from a nursing perspective
Provides a practical, clinically oriented lifespan approach
Covers science, technology, and clinical application of genomics
Addresses prevention, genetic testing, and treatment methods
Written for undergraduate- and graduate-level nursing students