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Author: D. J. Weatherall Publisher: Oxford University Press, USA ISBN: Category : Medical Languages : en Pages : 396
Book Description
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.
Author: D. J. Weatherall Publisher: Oxford University Press, USA ISBN: Category : Medical Languages : en Pages : 396
Book Description
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.
Author: Lynn B. Jorde Publisher: ISBN: Category : Genetic disorders Languages : en Pages : 392
Book Description
'Medical Genetics' offers up-to-date information on modern genetics. This comprehensive study includes the latest findings from genetic research and how that knowledge can be used in clinical practice.
Author: Shweta Dhar Publisher: Academic Press ISBN: 0128173459 Category : Science Languages : en Pages : 530
Book Description
Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad
Author: Christine E. Kasper, PhD, RN, FAAN, FACSM Publisher: Springer Publishing Company ISBN: 0826129137 Category : Medical Languages : en Pages : 425
Book Description
Completely updated to help nurses learn to ìthink geneticallyî 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 Environmental susceptibilities Prenatal detection and diagnosis Newborn and genetic screening Reproductive technologies Ethical issues Genetic therapies Epigenetics Content for graduate-level programs PowerPoint slides and a test bank for all student levels Key Features: 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
Author: Genetic Alliance Publisher: Lulu.com ISBN: 0982162219 Category : Biology Languages : en Pages : 104
Book Description
The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.
Author: Jordan W. Smoller Publisher: American Psychiatric Pub ISBN: 1585628794 Category : Medical Languages : en Pages : 340
Book Description
As more patients seek information about family risks of psychiatric illness -- an interest likely to increase as gene-identification studies are publicized -- most psychiatrists agree it is their role to discuss these issues but admit they are ill-prepared to do so. Psychiatric Genetics addresses that need as the first book to focus on clinical applications of genetics in psychiatry. It covers issues involved in genetic counseling, the interpretation of familial and genetic information for clinical use, information regarding risks associated with specific psychiatric disorders, risk/benefit considerations related to medication use during pregnancy, and the ethical and social implications of psychiatric genetic knowledge and research -- including the prospects for genetic testing. While other books have been written for the genetics community, this volume is addressed to practitioners: a clinically relevant resource that can help them understand the often bewildering flood of information about genetics -- information difficult to interpret, let alone integrate into practice -- and enable them to respond to patients' requests to predict the risk of recurrence of psychiatric illness or provide information about reproductive and pregnancy-related issues. Experts from psychiatry, genetic epidemiology, molecular genetics, genetic counseling, cognitive psychology, and ethics focus on issues that have received little attention elsewhere yet are of increasing importance to clinicians. Written at a level that assumes no particular expertise in genetics, the book features these immediately applicable benefits: It offers a framework for understanding and critically evaluating the psychiatric genetic research literature, enabling clinicians to better understand the meaning and limitations of genetic discoveries when patients raise questions about media reports. It provides a resource for clinicians who would like more information about the role and content of genetic counseling, outlining a typical counseling session while demonstrating how risks are estimated and discussed. It summarizes genetic aspects of major psychiatric conditions -- from childhood-onset disorders through psychotic, mood, and anxiety disorders to dementia -- as well as neuropsychiatric manifestations of other genetic disorders. It alerts clinicians to risk/benefit considerations related to medication use during pregnancy. It covers the ethical, legal, and social implications of genetic research and counseling, illustrating the dilemmas that arise with new advances. Whether used as a clinical guide, reference, or ancillary text, this book sets the standard for the application of psychiatric genetic knowledge in everyday practice. Psychiatrists, mental health clinicians, and genetic counselors will find it an essential resource for all patient encounters in which genetic issues arise.
Author: Graeme C.M. Black Publisher: Elsevier ISBN: 0128139447 Category : Medical Languages : en Pages : 490
Book Description
Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader
Author: Reed E. Pyeritz Publisher: Academic Press ISBN: 0128152370 Category : Science Languages : en Pages : 320
Book Description
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition 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 in this growing field. The book is ideal 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. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field
Author: D. J. Weatherall
Author: D. J. Weatherall
Author: Lynn B. Jorde
Author: Mihály Bartalos
Author: Shweta Dhar
Author: Christine E. Kasper, PhD, RN, FAAN, FACSM
Author: Genetic Alliance
Author: International Society of Nurses in Genetics
Author: Jordan W. Smoller
Author: Graeme C.M. Black
Author: Reed E. Pyeritz