Medical Genetics for the Modern Clinician is a concise, clinically oriented introductory genetics text for medical and allied health students, residents, and clinicians. The book focuses sharply on concepts that are most applicable to clinical practice. Ethics sections in each chapter discuss ethical issues facing today's practitioner, such as counseling, risk assessment, and testing. More than 120 illustrations help students visualize concepts. Each chapter ends with USMLE-style review questions. Appendices include a glossary and a Table of Genes that lists all genes covered in the text by chapter. Faculty resources, case studies, and downloadable full-color images will be available on connection.LWW.com/go/westman.
Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: • Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer • A much extended treatment of Biochemical Genetics • A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation • Two new chapters on Cardiac Developmental Pathology • An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.
New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine. New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding. Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking. Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders. The unique case-based structure and format remains the same, but substantial new material has been added to cover: polygenic risk scores – now starting to become useful clinical service tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient’s whole exome for the cause of their problem
The Practical Guide to The Genetic Family History Robin L. Bennett Compiling the most recent genetic developments in medical specialties, The Practical Guide to the Genetic Family History is a valuable resource which outlines the proper methods for taking and recording a patient's family medical history, allowing primary care physicians to be more efficient in diagnosing conditions with potential genetic components. With genetic screening forms, an overview of directed questions, pedigree nomenclature, and outlining common approaches used, genetic counselor Robin L. Bennett provides readers with the basic foundation in human genetics necessary to recognize inherited disorders and familial disease susceptibility in patients. As the only guide which is geared for the physician in this field, The Practical Guide to the Genetic Family History includes remarks by renowned medical geneticist Arno Motulsky, as well as information on structuring an accurate pedigree and its components, including: * Using a pedigree to identify individuals with an increased susceptibility to cancer * Family history, adoption, and their challenges * The connection between the pedigree and assisted reproductive technologies * Making referrals for genetic services * Neurological and neuromuscular conditions * Tables covering hearing loss, mental retardation, dementia, and seizures * Five case studies of genetics in practice An essential reference for genetics clinics, medical geneticists, and counselors, The Practical Guide to the Genetic Family History is also an invaluable aid for both primary care and specialist physicians who need an up-to-date reference that emphasizes both the science and art of modern clinical genetics.
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field
Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more – all designed to enhance effective learning and retention of complex material. Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis. Offers a completely updated discussion of genetic testing modalities and applications. Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment. Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses. Illustrates key concepts with disease examples to demonstrate relevance to medicine. Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Essentials of Medical Genetics for Health Professionals is a concise, accessible introduction to medical genetics for all health professions students. Even with limited exposure to genetics, students can use the accelerated approach in this text to attain a base foundation of genetics knowledge. This book begins with a review of chromosomes, DNA, RNA, protein synthesis, and inheritance patterns and continues with a clinical focus based on understanding different disease processes. A variety of genetic diseases are explored, including what is known about the genetics involved, the signs and symptoms of the disease, and the treatment options available. Accompanying tables and images aid comprehension. This book also covers diagnostic techniques and an overview of embryonic development and teratogens. The roles of genetic counseling and screening, as well as the ethical and legal issues related to genetic screening and genetic testing are also discussed. Complete with stated objectives, definition of key terms, references, chapter summaries and end of chapter review questions with answers, each chapter is organized for optimal learning. Essentials of Medical Genetics for Health Professionals will not only have application in the classroom setting for health professions or medical students, but practicing clinicians such as physician assistants, nurse practitioners, and physicians who want to learn more or revisit genetics will also find this book a valuable, useful resource. Instructor Resources include PowerPoint Slides, a TestBank, and an Image Bank.
The field of medical genetics and genomics has been constantly revolutionized by new breakthroughs, which bring more knowledge into the etiology and help improve the health care of individuals with either rare or common diseases. Nevertheless, as technologies evolve, novel challenges emerge, both technically and ethically, so they must be prudentially addressed. Among the myriad applications of genomics in medicine, this book depicts a glimpse of the advances achieved that have been leading us to the personalized/precision medicine era.
The book introduces non-specialist readers to the principles and scientific background which have provided insight into the study of human genes and their structure, activity, and role in normal and abnormal protein synthesis. This knowledge leads to clearer understanding of the molecular pathology of disease and to an awareness of potential applications to diagnosis and the development of therapeutic techniques.
Named a 2013 Doody's Core Title! REFRESH YOUR GENETIC KNOWLEDGE AND ENHANCE YOUR PATIENT CARE We now know that genetic factors can cause disease or affect an individual's susceptibility or resistance to disorders and even to treatment. To provide the best nursing care, it is therefore essential that practitioners and students have a basic knowledge of the science of genetics and how it affects the major areas of nursing expertise. To address this need, Dr. Felissa Lashley has created this "essentials" guide specifically for nurses. From genetic factors and trends affecting health care today, to the more complex discussions of human variation, every genetic topic critical to the practice of nursing and nursing education is covered, including: Prevention of Genetic Disease Genetic Testing and Treatment Genetic Counseling Maternal-Child Nursing Psychiatric/Mental Health Nursing Community/Public Health Nursing Trends, Policies, and Social and Ethical Issues Each chapter examines how genetic information influences treatment and management and is intended to further the development of a nurse's "genetic eye" in the daily care of patients.
