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Genetics And Genomics Of Eye Disease

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Genetics and Genomics of Eye Disease

Genetics and Genomics of Eye Disease Book
Author : Xiaoyi Raymond Gao
Publisher : Academic Press
Release : 2019-09-12
ISBN : 0128167270
Language : En, Es, Fr & De

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Book Description :

Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. Offers thorough guidance on conducting genetic and genomic studies of eye disease Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling

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

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.

Practical Genomics for Clinical Ophthalmology

Practical Genomics for Clinical Ophthalmology Book
Author : Jane Ashworth,Graeme Black,Bart P. Leroy,Panagiotis I. Sergouniotis
Publisher : Elsevier
Release : 2022-01-31
ISBN : 0128139447
Language : En, Es, Fr & De

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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

Translational Cardiometabolic Genomic Medicine

Translational Cardiometabolic Genomic Medicine Book
Author : Annabelle Rodriguez-Oquendo
Publisher : Academic Press
Release : 2015-09-07
ISBN : 0128004746
Language : En, Es, Fr & De

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Book Description :

Translational Cardiometabolic Genomic Medicine, edited by Dr. Annabelle Rodriguez-Oquendo, is an important resource to postgraduate (medical, dental and graduate) students, postdoctoral fellows, basic scientists, and physician scientists seeking to understand and expand their knowledge base in the field of genomic medicine as it is applied to cardiometabolic diseases. This handbook integrates cutting-edge experimental approaches such as chromatin immunoprecipitation paired end tagging (CHIA-PET), to population studies such as the Multi-Ethnic Study of Atherosclerosis. It encompasses a range of book chapters that highlight bioinformatic approaches to better understanding functionality of the noncoding regions of the human genome to the use of molecular diagnostic testing in predicting increased risk of cardiovascular diseases. Where applicable, this reference also includes chapters related to therapeutic options specifically aligned to molecular targets. Provides comprehensive research on translational genomic medicine Explains state-of-the-art genome editing for stem cells and mouse models with significant relevance to human cardiometabolic disease Includes discussions on the functional effects of single nucleotide polymorphisms and cardiometabolic diseases, stratified by sex and race Encompasses a range of book chapters that highlight bioinformatic approaches to better understanding functionality of the noncoding regions of the human genome

Molecular Neuropathology

Molecular Neuropathology Book
Author : Gareth W. Roberts,Julia M. Polak
Publisher : Cambridge University Press
Release : 1995-06-08
ISBN : 9780521425582
Language : En, Es, Fr & De

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Book Description :

This volume provides an introduction to the essential techniques required for studying the molecular biology of brain disease. The approaches and strategies for investigations of gene structure and regulation are described with reference to the molecular genetics of prion and Alzheimer's disease. The effects of aberrant gene regulation can also be examined at the protein level by immunocytochemistry and autoradiography. Improved understanding of basic biology has resulted in new approaches to animal models using transgenic techniques and new therapeutic approaches. The volume is structured to illustrate all these approaches and demonstrate the practice and promise of molecular neuropathology.

Advances in Vision Research Volume I

Advances in Vision Research  Volume I Book
Author : Gyan Prakash,Takeshi Iwata
Publisher : Springer
Release : 2017-04-24
ISBN : 4431565116
Language : En, Es, Fr & De

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Book Description :

This book presents the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book’s editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume I will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population.

Molecular Genetics of Inherited Eye Disorders

Molecular Genetics of Inherited Eye Disorders Book
Author : Alan F. Wright
Publisher : CRC Press
Release : 1994-12-01
ISBN : 9783718654932
Language : En, Es, Fr & De

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Book Description :

Molecular Genetics of Inherited Eye Disorders provides an authoritative and up-to-date account of molecular genetic advances in a wide spectrum of genetic eye disorders, and forms the second volume in the Modern Genetics book series. The field has produced some dramatic and often unexpected findings in recent years ranging from the elegant unravelling of the molecular basis of colour vision defects to the subtle complexity of the retinoblastoma gene. The role of crystallins in congenital cataract and of the rhodopsin molecule in retinitis pigmentosa are discussed, illustrating the importance of the candidate gene approach to genetic eye disease. Reverse genetic approaches to the cloning of genes responsible for aniridia and choroideremia exemplify the power of the new genetic techniques and signal the start of the next experimental phase, in which the functional characterization of identified genes begins.

Genetic Diseases of the Eye

Genetic Diseases of the Eye Book
Author : Elias I. Traboulsi
Publisher : OUP USA
Release : 2012-01-12
ISBN : 0195326148
Language : En, Es, Fr & De

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Book Description :

This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.

Human Genes and Genomes

Human Genes and Genomes Book
Author : Leon E. Rosenberg,Diane Drobnis Rosenberg
Publisher : Academic Press
Release : 2012-05-21
ISBN : 0123852137
Language : En, Es, Fr & De

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Book Description :

In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor’s office, in the courtroom and even in social relationships. In this helpful guidebook, one of the most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the integration of extensive references, this book provides students and professionals alike with the most in-depth view of the current state of the science and its relevance across disciplines. Bridges the gap between basic human genetic understanding and one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. Includes the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more Explores ethical, legal, regulatory and economic aspects of genomics in medicine. Integrates historical (classical) genetics approach with the latest discoveries in structural and functional genomics

Advances in Vision Research Volume II

Advances in Vision Research  Volume II Book
Author : Gyan Prakash,Takeshi Iwata
Publisher : Springer
Release : 2018-11-03
ISBN : 9811308845
Language : En, Es, Fr & De

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Book Description :

This second volume continues with a focus on the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book’s editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume II will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population.

Genetics of the Dog

Genetics of the Dog Book
Author : Elaine A. Ostrander
Publisher : CABI
Release : 2012-01-01
ISBN : 9781845939410
Language : En, Es, Fr & De

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Book Description :

Recognizing the significant advances made in the field of animal genetics in the ten years since the first edition of "The Genetics of the Dog", this new edition of the successful 2001 book provides a comprehensive update on the subject, along with new material on topics of current and growing interest. Existing chapters on essential topics such as immunogenetics, genetics of diseases, developmental genetics and the genetics of behaviour have been fully updated, while new authors report on the latest advances in areas such as genetic diversity of dog breeds, canine genomics, olfactor.

The Busy Physician s Guide To Genetics Genomics and Personalized Medicine

The Busy Physician   s Guide To Genetics  Genomics and Personalized Medicine Book
Author : Kevin M. Sweet,Ron C. Michaelis
Publisher : Springer Science & Business Media
Release : 2011-04-23
ISBN : 9400711476
Language : En, Es, Fr & De

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Book Description :

In the coming decade, the focus of medicine will shift from a disease-oriented approach, where the physician prescribes according to the disease the patient has, to a personalized approach, in which the physician first considers the patient’s individual biochemistry before prescribing a treatment. Personalized medicine has the potential to improve efficacy and safety in virtually all fields of medicine. Unfortunately, few physicians feel confident in their ability to apply the principles of genetics and genomics upon which personalized medicine is based to their practice. This book is intended to help the practicing physician understand and apply the principles of genetic and genomic medicine, regardless of his/her level of background in the field. It provides a thorough foundation/review of classical genetic principles, with an emphasis on how these principles apply to personalized medicine and common complex diseases. In addition, it provides a wide-ranging review of the inroads that personalized medicine has made into several fields, including cancer, psychiatric disorders, cardiovascular disease, substance abuse, Alzheimer disease, respiratory diseases, type 2 diabetes and macular degeneration. Most importantly, this book is intended to enable the practicing physician, physician assistants and their entire healthcare team to anticipate the developments that will emerge in the near future, and stay current with the field as it expands.

Systematic Evaluation of the Mouse Eye

Systematic Evaluation of the Mouse Eye Book
Author : Richard S. Smith,Simon W. M. John,Patsy M. Nishina,John P. Sundberg
Publisher : CRC Press
Release : 2001-12-20
ISBN : 1420041606
Language : En, Es, Fr & De

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Book Description :

Completion of the first phase of the Human Genome Project has presented scientists with a mountain of new information. The availability of all human genes and their locations is exciting, but their mechanisms of action and interaction with other genes are often unknown. Certain variations in the environment and characteristics of human genes make it difficult for scientists to maximize their efforts to take advantage of this new fund of knowledge. The high degree of similarity between mouse and human genomes and physiology has made mice the laboratory animals of choice in the search for models of human disease. In recent years significant advances in our ability to examine the mouse eye and to view vascular and neural structures in vivo has led to a marked increase in interest in mouse ocular pathology and development. Besides providing much new information, Systematic Evaluation of the Mouse Eye: Anatomy, Pathology, and Biomethods provides investigators with a resource that summarizes the widely scattered information on mouse eye anatomy, development, and pathology. It describes the normal anatomy, pre- and postnatal development, regional pathology, and methodology for evaluation of the mouse eye and adnexae. The first section covers the principal features of mouse eye anatomy and development. The second part discusses issues in evaluation of mutations in mice, including background ocular disease, control selection, quantitative traits, and ENU mutagenesis. With this background in place, the book then reviews and illustrates regional ocular pathology and correlates it with human eye disease. Many of the contributors who have helped develop and refine the specialized techniques necessary for the examination and preparation of mouse eye tissue for microscopy provide "how-to" chapters. These chapters cover methods for necropsy, photography, histopathology, confocal microscopy, intraocular pressure measurement, and electroretinography. Systematic Evaluation of the Mouse Eye: Anatomy, Pathology, and Biomethods provides the first comprehensive and systematic guide to understanding the development, structure, and abnormal pathology of the mouse eye so you can make the most of your genetic research.

Genetics Genomics and Breeding of Potato

Genetics  Genomics and Breeding of Potato Book
Author : James M. Bradeen,Chittaranjan Kole
Publisher : CRC Press
Release : 2016-04-19
ISBN : 1439868859
Language : En, Es, Fr & De

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Book Description :

In this volume, world leaders in potato research review historical and contemporary discoveries resulting in a range of advances. Topics include nutritional quality, yield, disease and insect resistance, processing, plant growth and development, and other aspects. The book also examines research yielding significant molecular resources that facilit

Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies

Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies Book
Author : Sorin Hostiuc
Publisher : Academic Press
Release : 2018-08-07
ISBN : 0128137657
Language : En, Es, Fr & De

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Book Description :

Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies offers thorough discussions on preconception carrier screening, genetic engineering and the use of CRISPR gene editing, mitochondrial gene replacement therapy, sex selection, predictive testing, secondary findings, embryo reduction and the moral status of the embryo, genetic enhancement, and the sharing of genetic data. Chapter contributions from leading bioethicists and clinicians encourage a global, holistic perspective on applied challenges and the moral questions relating the implementation of genetic reproductive technology. The book is an ideal resource for practitioners, regulators, lawmakers, clinical researchers, genetic counselors and graduate and medical students. As the Human Genome Project has triggered a technological revolution that has influenced nearly every field of medicine, including reproductive medicine, obstetrics, gynecology, andrology, prenatal genetic testing, and gene therapy, this book presents a timely resource. Provides practical analysis of the ethical issues raised by cutting-edge techniques and recent advances in prenatal and reproductive genetics Contains contributions from leading bioethicists and clinicians who offer a global, holistic perspective on applied challenges and moral questions relating to genetic and genomic reproductive technology Discusses preconception carrier screening, genetic engineering and the use of CRISPR gene editing, mitochondrial gene replacement therapy, ethical issues, and more

Retinal Degenerative Diseases

Retinal Degenerative Diseases Book
Author : Matthew M. LaVail,John Ash,Robert E. Anderson,Joe G. Hollyfield,Christian Grimm
Publisher : Springer Science & Business Media
Release : 2011-12-21
ISBN : 1461406315
Language : En, Es, Fr & De

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Book Description :

This book will contain the proceedings of the XIV International Symposium on Retinal Degeneration (RD2010), held July 13-17, 2010, in Mont-Tremblant, Quebec, Canada. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.

Ophthalmic Genetic Diseases

Ophthalmic Genetic Diseases Book
Author : Natario L. Couser
Publisher : Elsevier
Release : 2018-09-24
ISBN : 9780323654142
Language : En, Es, Fr & De

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Book Description :

This book provides current, clinically focused information on more than 400 genetic eye diseases.

The Human Genome

The Human Genome Book
Author : Julia E. Richards,R. Scott Hawley
Publisher : Academic Press
Release : 2010-12-12
ISBN : 9780080918655
Language : En, Es, Fr & De

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Book Description :

Significant advances in our knowledge of genetics were made during the twentieth century but in the most recent decades, genetic research has dramatically increased its impact throughout society. Genetic issues are now playing a large role in health and public policy, and new knowledge in this field will continue to have significant implications for individuals and society. Written for the non-majors human genetics course, Human Genetics, 3E will increase the genetics knowledge of students who are learning about human genetics for the first time. This thorough revision of the best-selling Human Genome,2E includes entirely new chapters on forensics, stem cell biology, bioinformatics, and societal/ethical issues associated with the field. New special features boxes make connections between human genetics and human health and disease. Carefully crafted pedagogy includes chapter-opening case studies that set the stage for each chapter; concept statements interspersed throughout the chapter that keep first-time students focused on key concepts; and end-of-chapter questions and critical thinking activities. This new edition will contribute to creating a genetically literate student population that understands basic biological research, understands elements of the personal and health implications of genetics, and participates effectively in public policy issues involving genetic information . Includes topical material on forensics, disease studies, and the human genome project to engage non-specialist students Full, 4-color illustration program enhances and reinforces key concepts and themes Uniform organization of chapters includes interest boxes that focus on human health and disease, chapter-opening case studies, and concept statements to engage non-specialist readers

Lashley s Essentials of Clinical Genetics in Nursing Practice Second Edition

Lashley s Essentials of Clinical Genetics in Nursing Practice  Second Edition Book
Author : Christine E. Kasper, PhD, RN, FAAN, FACSM,Tonya A. Schneidereith, PhD, CRNP, PPCNP-BC, CPNP-AC,Felissa R. Lashley, PhD, RN, FABMGG
Publisher : Springer Publishing Company
Release : 2015-09-16
ISBN : 0826129137
Language : En, Es, Fr & De

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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