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Genomics In The Clinic

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Clinical Genomics

Clinical Genomics Book
Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Release : 2014-11-10
ISBN : 0124051731
Language : En, Es, Fr & De

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Book Description :

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

Medical and Health Genomics

Medical and Health Genomics Book
Author : Dhavendra Kumar,Stylianos Antonarakis
Publisher : Academic Press
Release : 2016-06-04
ISBN : 0127999221
Language : En, Es, Fr & De

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Book Description :

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

Clinical Genome Sequencing

Clinical Genome Sequencing Book
Author : Aad Tibben,Barbara B. Biesecker
Publisher : Academic Press
Release : 2019-03-30
ISBN : 0128133368
Language : En, Es, Fr & De

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Book Description :

Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine. Features contributions from leading international researchers and practitioners versed in the psychosocial dimensions of genomic medicine implementation Presents clinical case studies that support concept illustration, making this an invaluable reference for students, researchers, and clinicians looking for practical guidance in this important and multifaceted topic area Details the current state of genomic testing, expectations of genome sequencing, patient consent, patient responses to sequencing data, uncertainties in genome sequencing, direct-to-consumer genome sequencing, and more

Genomic Medicine

Genomic Medicine Book
Author : Dhavendra Kumar,Charis Eng
Publisher : Oxford Monographs on Medical G
Release : 2014-10-15
ISBN : 019989602X
Language : En, Es, Fr & De

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Book Description :

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics Book
Author : Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
Publisher : Academic Press
Release : 2020-04-10
ISBN : 0128173459
Language : En, Es, Fr & De

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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

Genomic and Personalized Medicine

Genomic and Personalized Medicine Book
Author : Anonim
Publisher : Academic Press
Release : 2012-10-30
ISBN : 0123822289
Language : En, Es, Fr & De

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Book Description :

Genomic and Personalized Medicine, Second Edition — winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003. Highly Commended 2013 BMA Medical Book Award for Medicine More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis

Precision Medicine A Guide to Genomics in Clinical Practice

Precision Medicine  A Guide to Genomics in Clinical Practice Book
Author : Jeanette J. McCarthy,Bryce A. Mendelsohn
Publisher : McGraw Hill Professional
Release : 2017-01-05
ISBN : 1259644146
Language : En, Es, Fr & De

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Book Description :

Incorporate genomics into every applicable area of your clinical practice with this complete how-to guide Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice. Features that make this book valuable to every practice: •Intentionally avoids excessive technical content and consistently emphasizes real-life patient care and decision support •Follows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stage •Organization allows healthcare providers to quickly and easily find the information relevant to their practice. •The authors highlight common pitfalls – technical and ethical – that might complicate the delivery of quality genomic healthcare •Enhanced by eleven valuable appendices that cover important topics ranging from the basics of genetics to ethical issues to regulation and reimbursement If you are searching for a clinically relevant, non-technical resource that will teach you how genomic medicine can and should be practiced in your specific field of interest, Precision Medicine: A Guide to Genomics in Clinical Practicebelongs on your desk.

Clinical Ophthalmic Genetics and Genomics

Clinical Ophthalmic Genetics and Genomics Book
Author : Graeme C.M. Black,Jane L. Ashworth,Panagiotis I. Sergouniotis
Publisher : Academic Press
Release : 2022-01-18
ISBN : 0128139455
Language : En, Es, Fr & De

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Book Description :

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

Clinical Genomics Practical Applications for Adult Patient Care

Clinical Genomics  Practical Applications for Adult Patient Care Book
Author : Michael T. Murray,Mark Babyatski,Monica Giovanni
Publisher : McGraw Hill Professional
Release : 2013-10-22
ISBN : 0071810595
Language : En, Es, Fr & De

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Book Description :

Convert the latest genomic data to the most effective patient management and treatment approaches Clinical Genomics helps healthcare providers translate the vast amount of new genomic data into successful clinical application. It is a comprehensive textbook and practical guide to the use of this information across a broad spectrum of adult diseases – from individual differences in drug responses, cardiac and cancer risks to Alzheimer's and other neurological and psychiatric disorders. While traditional textbooks on medical genetics focus on classic Mendelian disorders, Clinical Genomics discusses the everyday application of genetic assessment and the diagnostic, therapeutic, and preventive implications to the most common adult diseases that healthcare providers encounter. Covering approximately 200 conditions, it is a true clinical text for use across all of internal medicine. Coverage of each condition is presented in a consistent, clinically relevant manner and includes: Key Points Diagnostic Criteria and Clinical Characteristics Screening and C ounseling Management and Treatment Molecular Genetics and Molecular Mechanism Supplementary Information More than ten valuable appendices, include Genetic Privacy; Race, Ancestry, and Genetics; Personalized Medicine in Clinical Practice; Clinical Interpretation of Genomic Data; and Genetic Risk Profiling in the Genomics Era. Clinical Genomics is essential for internists, primary care physicians, and other healthcare providers who wish to increase their knowledge of the gene-and-protein level care of patients in a clinical setting.

Clinical Precision Medicine

Clinical Precision Medicine Book
Author : Judy S. Crabtree
Publisher : Academic Press
Release : 2019-11-15
ISBN : 0128204028
Language : En, Es, Fr & De

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Book Description :

Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics Features chapter contributions from leaders in the field Consolidates fundamental concepts and current practices of precision medicine in one convenient resource

Genetics in the Clinic

Genetics in the Clinic Book
Author : Mary Briody Mahowald,Victor A. McKusick,Angela Scheuerle,Timothy J. Aspinwall
Publisher : Mosby Incorporated
Release : 2001
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

GENETICS IN THE CLINIC provides a broad understanding of advances in genetics and their implications for primary care practice. The book begins with basic concepts in genetics, diagnosis and management of genetic disease, cancer genetics, and prenatal testing. Part Two deals with topics relevant to all areas of primary care, such as cultural and ethnic differences, the role of the nurse, and genetic counseling. Part Three addresses ethical or social issues applicable to specific practices. The book's final section considers regulatory matters, including the impact of managed care and insurance and employment issues. Practitioners who are knowledgeable about health care, but who have no special training in genetics, will find this book especially useful as they learn to deal with the clinical, ethical, and social implications of advances in genetics for their practice. Thoroughly explains how to obtain a useful family history, what kind of genetic tests to order and when, how to counsel parents about testing of children, how to counsel for late onset or susceptibility conditions, and how to identify those for whom cancer risk or other risk testing is appropriate. Expert perspectives on disability, ethnic, gender, and class differences, reflecting the wide variety of patients seen by today's practitioners. Glossary of genetic terms and extensive bibliography of print and electronic sources - useful for clinicians who want to update their practice or for explaining complex terminology to patients. Dr. McKusick is world-renowned for his expertise in the field of human genetics and specific genetic conditions. Contributors have been trained in various areas of primary care: obstetrics, paediatrics, family medicine, internal medicine, and nursing

Genomics Circuits and Pathways in Clinical Neuropsychiatry

Genomics  Circuits  and Pathways in Clinical Neuropsychiatry Book
Author : Thomas Lehner,Bruce L. Miller,Matthew W. State
Publisher : Academic Press
Release : 2016-06-07
ISBN : 0128005300
Language : En, Es, Fr & De

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Book Description :

This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics Identifies key concepts, methods, and findings Includes coverage of multiple disorders from autism to schizophrenia Reviews specific genes associated with disorders Discusses the genetic architecture of these syndromes Explains how recent findings are influencing the understanding of biology Clarifies the promise of these findings for future treatment

Clinical Genetics and Genomics of Aging

Clinical Genetics and Genomics of Aging Book
Author : Juan Carlos Gomez-Verjan,Nadia Alejandra Rivero-Segura
Publisher : Springer Nature
Release : 2020-04-13
ISBN : 3030409554
Language : En, Es, Fr & De

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Book Description :

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.

Genomic and Precision Medicine

Genomic and Precision Medicine Book
Author : Geoffrey S. Ginsburg,Huntington F Willard,Sean P. David
Publisher : Academic Press
Release : 2017-03-30
ISBN : 0128006544
Language : En, Es, Fr & De

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Book Description :

Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners. Presents a comprehensive volume for primary care providers Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine Includes a current overview on major opportunities for genomic and personalized medicine in practice Highlights case studies that illustrate the practical use of genomics in the management in patients

Genomics and Clinical Diagnostics

Genomics and Clinical Diagnostics Book
Author : Ralph Rapley,David Whitehouse
Publisher : Royal Society of Chemistry
Release : 2019-01-29
ISBN : 1788016807
Language : En, Es, Fr & De

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Book Description :

Genomics and genome technology is having, and continues to have, a major impact on all areas of bioscience research providing insights into the key area of molecular mechanisms of cells in health and disease. This is causing a profound effect on biomedical science and is accelerating the development of new diagnostic applications. This book provides a timely, graduate level introduction to the fast-paced area of genomics and clinical diagnostic technologies and introduces the concept of applications based on this area. The initial chapters focus on principal molecular technologies that underpin the information in the later chapters. In addition to introductory areas of nucleic acids and techniques in molecular biology, bioinformatics and proteomics, other key diagnostic areas such as the use of immunological reagents are covered. The later chapters provide more specialised examples of currently used diagnostic technologies and insights into selected key diagnostic challenges including specific examples of molecular microbial diagnostics and molecular biomarkers in oncology. The running themes through the chapters provides an insight into current and future perspectives in this rapidly evolving field.

Genomic and Precision Medicine

Genomic and Precision Medicine Book
Author : Geoffrey S. Ginsburg,Huntington F Willard,John Strickler,Matthew Stuart McKinney
Publisher : Academic Press
Release : 2022-04-09
ISBN : 0128006536
Language : En, Es, Fr & De

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Book Description :

Genomic and Precision Medicine: Oncology, Third Edition focuses on the applications of genome discovery as research points to personalized cancer therapies. Each chapter is organized to cover the application of genomics and personalized medicine tools and technologies to a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field. Provides a comprehensive volume written and edited by oncology genomic specialists for oncology health providers Includes succinct commentary and key learning points that will assist providers with their local needs for implementation of genomic and personalized medicine into practice Presents an up-to-date overview on major opportunities for genomic and personalized medicine in practice Covers case studies that highlight the practical use of genomics in the management of patients

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation Book
Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Publisher : Academic Press
Release : 2021-02-27
ISBN : 0128205202
Language : En, Es, Fr & De

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Book Description :

Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes

Essentials of Genomic and Personalized Medicine

Essentials of Genomic and Personalized Medicine Book
Author : Geoffrey S. Ginsburg,Huntington F Willard
Publisher : Academic Press
Release : 2009-10-02
ISBN : 9780080958118
Language : En, Es, Fr & De

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Book Description :

Derived from the comprehensive two-volume set, Genomic and Personalized Medicine also edited by Drs. Willard and Ginsburg, this work serves the needs of the evolving population of scientists, researchers, practitioners and students that are embracing one of the most promising avenues for advances in diagnosis, prevention and treatment of human disease. From principles, methodology and translational approaches to genome discoveries and clinical applications, Essentials of Genomic and Personalized Medicine will be a valuable resource for various professionals and students across medical disciplines, including human genetics and genomics, oncology, neuroscience, gene therapy, molecular medicine, pharmacology, and biomedical sciences. Updates with regard to diagnostic testing, pharmacogenetics, predicting disease susceptibility, and other important research components as well as chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, present this book as an essential tool for a variety of professionals and students who are endeavouring into the developing the diverse and practical field of genomic and personalized medicine. * Full color throughout * Includes contributions on genetic counselling, ethical, legal/regulatory, and social issues related to the practice of genomic medicine from leaders in the field * Introductory chapter highlights differences between personalized and traditional medicine, promising areas of current research, and challenges to incorporate the latest research discoveries and practice * Ancillary material includes case studies and lab questions which highlight the collaborative approach to the science

Genetics in Ophthalmology

Genetics in Ophthalmology Book
Author : B. Wissinger,Susanne Kohl,U. Langenbeck
Publisher : Karger Medical and Scientific Publishers
Release : 2003-01-01
ISBN : 3805575785
Language : En, Es, Fr & De

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Book Description :

The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.

Oxford Desk Reference

Oxford Desk Reference Book
Author : Helen V. Firth,Jane A. Hurst,Judith G. Hall
Publisher : Oxford University Press, USA
Release : 2005
ISBN : 9780192628961
Language : En, Es, Fr & De

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Book Description :

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.