Genetics and Genomics in Medicine Book

Genetics and Genomics in Medicine

  • Author : Tom Strachan
  • Publisher : Taylor & Francis
  • File Size : 11,7 Mb
  • Release Date : 2014-06-02
  • Genre: Medical
  • Pages : 545
  • ISBN 10 : 9781317594307
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Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti

Handbook of Clinical Adult Genetics and Genomics Book

Handbook of Clinical Adult Genetics and Genomics

  • Author : Shweta Dhar
  • Publisher : Academic Press
  • File Size : 7,5 Mb
  • Release Date : 2020-04-10
  • Genre: Science
  • Pages : 534
  • ISBN 10 : 9780128173459
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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

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics Book

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics

  • Author : Reed E. Pyeritz
  • Publisher : Academic Press
  • File Size : 14,6 Mb
  • Release Date : 2020-09-30
  • Genre: Medical
  • Pages : 790
  • ISBN 10 : 9780128126837
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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 researc

Modern Medical Genetics and Genomics Book

Modern Medical Genetics and Genomics

  • Author : Israel Gomy
  • Publisher : BoD – Books on Demand
  • File Size : 13,5 Mb
  • Release Date : 2019-12-18
  • Genre: Medical
  • Pages : 106
  • ISBN 10 : 9781839681424
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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.

Medical Genetics Book
Score: 5
From 1 Ratings

Medical Genetics

  • Author : Lynn B. Jorde
  • Publisher : Elsevier Masson
  • File Size : 11,6 Mb
  • Release Date : 2003
  • Genre: Medical genetics
  • Pages : 458
  • ISBN 10 : 2842995759
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The emphasis of this book is on those aspects of medical genetics most useful in a modern clinical practice. Clinical aspects of molecular genetics research have been incorporated throughout the spectrum of genetically determined diseases.

Emery s Elements of Medical Genetics Book
Score: 5
From 1 Ratings

Emery s Elements of Medical Genetics

  • Author : Robert F. Mueller
  • Publisher : Unknown
  • File Size : 18,5 Mb
  • Release Date : 2001
  • Genre: Genetic disorders
  • Pages : 388
  • ISBN 10 : UOM:39015053139039
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Today's medical student needs to understand the principles of genetics rather than accumulate detailed facts. This text explains the essential themes of medical genetics whilst remaining in control of the developments in this subject.

Medical and Health Genomics Book

Medical and Health Genomics

  • Author : Dhavendra Kumar
  • Publisher : Academic Press
  • File Size : 9,9 Mb
  • Release Date : 2016-06-04
  • Genre: Science
  • Pages : 358
  • ISBN 10 : 9780127999227
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Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics Book

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics

  • Author : Reed E. Pyeritz
  • Publisher : Academic Press
  • File Size : 16,8 Mb
  • Release Date : 2022-08-26
  • Genre: Medical
  • Pages : 384
  • ISBN 10 : 9780128126820
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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. 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, this updated 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. Fully addresses medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches and treatment methods Provides genetic researchers, students and health professionals with new and updated chapters on the genetic basis of, and treatment pathways for, red blood cell disorders, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, diabetes mellitus, as

Oxford Desk Reference Book
Score: 5
From 1 Ratings

Oxford Desk Reference

  • Author : Helen V. Firth
  • Publisher : Oxford University Press, USA
  • File Size : 14,8 Mb
  • Release Date : 2005
  • Genre: Medical
  • Pages : 708
  • ISBN 10 : 0192628968
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Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

Genomics and Health in the Developing World Book

Genomics and Health in the Developing World

  • Author : Dhavendra Kumar
  • Publisher : Oxford University Press
  • File Size : 11,7 Mb
  • Release Date : 2012-05-11
  • Genre: Medical
  • Pages : 1536
  • ISBN 10 : 9780199705474
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Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.

Clinical Ophthalmic Genetics and Genomics Book

Clinical Ophthalmic Genetics and Genomics

  • Author : Graeme C.M. Black
  • Publisher : Academic Press
  • File Size : 13,9 Mb
  • Release Date : 2022-01-18
  • Genre: Medical
  • Pages : 492
  • ISBN 10 : 9780128139455
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Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders Expert guidance on the complete spectrum of genetic ophthalmic disorders from leading international clinicians and researchers Well-organised with streamlined, templated chapters and a user-friendly layout that provides quick access to clinically relevant information, and is designed to help ophthalmologists, geneticists, and genetic counsellors in the clinic room

Genomic Medicine Book

Genomic Medicine

  • Author : Dhavendra Kumar
  • Publisher : Oxford Monographs on Medical G
  • File Size : 9,7 Mb
  • Release Date : 2014-10-15
  • Genre: Medical
  • Pages : 853
  • ISBN 10 : 9780199896028
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Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Clinical Genetics and Genomics of Aging Book

Clinical Genetics and Genomics of Aging

  • Author : Juan Carlos Gomez-Verjan
  • Publisher : Springer
  • File Size : 5,5 Mb
  • Release Date : 2021-04-28
  • Genre: Medical
  • Pages : 271
  • ISBN 10 : 3030409570
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The world population is rapidly aging—it is estimated that by 1950, around 17% of the population will be elderly. In this context, aging involves several physiological, psychological and highly complex social processes that vary from one person to another. For a long time, medical care for older adults has focused on treating chronic, age-related diseases and their associated consequences. Recently, biomedical research brings a novel point of view to develop more effective interventions by targeting the aging process itself rather than separate conditions. There is a growing number of reports indicating that aging is driven by several interconnected mechanisms and biological components referred to as the molecular pillars of aging. Interfering with these mechanisms could help to treat, prevent, and understand the development of age-related diseases and associated syndromes. This book provides a clinical perspective and general update on biomedical and genetic research in aging, moving from an update in the molecular pillars of aging to a perspective of the most recent pharmacological, clinical, and diagnostic applications using genomic approaches and techniques. While this book focuses on the specifics of genetics and genomics, it also adopts a clinical perspective of geroscience, which seeks to understand the genetic, molecular and cellular mechanisms that make aging an important risk factor and, sometimes, a determining factor in the diseases and common chronic conditions of older people. Additionally, Clinical Genetics and Genomics of Aging is a significant contribution to support aging research, as it shows that collaboration across disciplines is relevant to progress in the field. As more and more people benefit from increased longevity, clinician and researchers will be empowered by this knowledge to contribute to the progress of aging research.

Understanding Disparities in Access to Genomic Medicine Book

Understanding Disparities in Access to Genomic Medicine

  • Author : National Academies of Sciences, Engineering, and Medicine
  • Publisher : National Academies Press
  • File Size : 5,8 Mb
  • Release Date : 2019-01-28
  • Genre: Medical
  • Pages : 127
  • ISBN 10 : 9780309485258
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Genomic medicine is defined as the routine use of genomic information about an individual as part of his or her clinical care as well as the health outcomes and policy implications of that clinical use. It is one approach that has the potential to improve the quality of health care by allowing practitioners to tailor prevention, diagnostic, and treatment strategies to individual patients. In recent years, research breakthroughs, technological advances, and the decreasing cost of DNA sequencing have led to the wider adoption of genomic medicine. However, as with the introduction of new technologies into health care, there are concerns that genetic and genomic testing and services will not reach all segments of the population both now and in the near future, and there remains a gap in knowledge regarding potential health care disparities in genomic medicine and precision health approaches. On June 27, 2018, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to examine the gaps in knowledge related to access to genomic medicine and to discuss health care disparities and possible approaches to overcoming the disparate use of genomic medicine among populations. Workshop participants discussed research on access to genetics and genomics services in medically underserved areas, model programs of care for diverse patient populations, and current challenges and possible best practices for alleviating health care disparities as they relate to genomics-based approaches. This publication summarizes the presentations and discussions from the workshop.

Human Genetics and Genomics Book

Human Genetics and Genomics

  • Author : Bruce R. Korf
  • Publisher : John Wiley & Sons
  • File Size : 11,6 Mb
  • Release Date : 2012-11-19
  • Genre: Medical
  • Pages : 280
  • ISBN 10 : 9781118537664
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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 Wiley E-Text digital 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