Genetica

This fourth edition of the best-selling textbook, Human Genetics and Genomics , clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression.Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today's genetics teaching, and includes updated discussion of genetic risk assessment, "single gene" disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the enhanced Wiley Desktop Edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com , including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

Suitable for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature, this title features some definitions including chromothripsis and duplication.

"Nutrigenetics: Applying the Science of Personal Nutrition" provides a fully referenced, readable guide to understanding the rationale and importance of nutrigenetic applications and explains why single nutrition recommendations will not fit everybody or even a majority of modern humans. This books explains how genetic variation shapes individual nutrition requirements and sensitivities, presents questions to ask about reported gene-nutrient interactions, and what needs to be done before putting nutrigenetic tests to practical use. This book blends key concepts from the fields of genetics, biochemistry, epidemiology, public health, and clinical medicine to give a rich perspective on the genetically diverse nutritional needs and sensitivities of individuals in health and disease. A steadily increasing number of people order genetic tests to find out what they should eat for better health, well being and performance, and an even greater number asks their healthcare providers about such tests. Most of the currently offered tests are not grounded in current knowledge, often absurdly so, but few professionals can explain why they are misguided. On the other hand, there are more evidence-supported genetic variants that can guide nutrition decisions, but again most healthcare providers know little about them, much less use them in their daily practice. There is a great need for a solidly evidence-based yet accessible book that explains the science of nutrigenetics and provides the tools to evaluate new nutrigenetic tests. It includes comprehensive coverage of the emerging science of nutritional genetics and its promise for individually tailored nutrition guidance. It presents practical examples to enhance comprehension and spur additional research. It offers a logical progression from what nutrigenetics is, to its possibilities in enhancing health.

Adopted at Cambridge University 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.