Genetics and Genomics of Eye Disease Book

Genetics and Genomics of Eye Disease


  • Author : Xiaoyi Raymond Gao
  • Publisher : Academic Press
  • Release Date : 2019-09-12
  • Genre: Science
  • Pages : 383
  • ISBN 10 : 9780128167274

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Genetics and Genomics of Eye Disease Excerpt :

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

Genetics and Genomics of Eye Disease Book

Genetics and Genomics of Eye Disease


  • Author : Xiaoyi Raymond Gao
  • Publisher : Academic Press
  • Release Date : 2019-09
  • Genre: Science
  • Pages : 456
  • ISBN 10 : 0128162228

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Genetics and Genomics of Eye Disease Excerpt :

In recent years, genomics has revolutionized disease gene discovery, pharmaceutical development, and preventative screening across all medical disciplines, including ophthalmology. In employing molecular profiling and collaborative genomic studies, ocular genomics researchers are now able to gain fundamental insight into the genetic basis of eye disorders and eye disease etiology--information that may be applied in genetic risk assessment of patients, or in support of new drug discovery. Genetics and Genomics of Eye Disease 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, kerotoconus, 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 and fully incorporating ocular genomics into the paradigm shift towards precision medicine. 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 Book

Clinical Ophthalmic Genetics and Genomics


  • Author : Graeme C.M. Black
  • Publisher : Academic Press
  • Release Date : 2022-01-18
  • Genre: Medical
  • Pages : 492
  • ISBN 10 : 9780128139455

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Clinical Ophthalmic Genetics and Genomics Excerpt :

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 Book

Genetics in Ophthalmology


  • Author : B. Wissinger
  • Publisher : Karger Medical and Scientific Publishers
  • Release Date : 2003-01-01
  • Genre: Medical
  • Pages : 230
  • ISBN 10 : 9783805575782

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Genetics in Ophthalmology Excerpt :

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.

Clinical Ophthalmic Genetics and Genomics Book

Clinical Ophthalmic Genetics and Genomics


  • Author : Graeme C.M. Black
  • Publisher : Elsevier
  • Release Date : 2022-01-20
  • Genre: Medical
  • Pages : 490
  • ISBN 10 : 9780128139448

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Clinical Ophthalmic Genetics and Genomics Excerpt :

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

Molecular Genetics of Inherited Eye Disorders Book
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Molecular Genetics of Inherited Eye Disorders


  • Author : Alan F. Wright
  • Publisher : CRC Press
  • Release Date : 1994-12-01
  • Genre: Medical
  • Pages : 554
  • ISBN 10 : 3718654938

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Molecular Genetics of Inherited Eye Disorders Excerpt :

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.

Molecular Neuropathology Book

Molecular Neuropathology


  • Author : Gareth W. Roberts
  • Publisher : Cambridge University Press
  • Release Date : 1995-06-08
  • Genre: Medical
  • Pages : 204
  • ISBN 10 : 0521425581

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Molecular Neuropathology Excerpt :

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.

Translational Cardiometabolic Genomic Medicine Book

Translational Cardiometabolic Genomic Medicine


  • Author : Annabelle Rodriguez-Oquendo
  • Publisher : Academic Press
  • Release Date : 2015-09-07
  • Genre: Science
  • Pages : 352
  • ISBN 10 : 9780128004746

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Translational Cardiometabolic Genomic Medicine Excerpt :

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

Atlas of Inherited Retinal Diseases Book

Atlas of Inherited Retinal Diseases


  • Author : Stephen H. Tsang
  • Publisher : Springer
  • Release Date : 2018-12-21
  • Genre: Medical
  • Pages : 274
  • ISBN 10 : 9783319950464

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Atlas of Inherited Retinal Diseases Excerpt :

This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.

Translational Systems Medicine and Oral Disease Book

Translational Systems Medicine and Oral Disease


  • Author : Stephen Sonis
  • Publisher : Academic Press
  • Release Date : 2019-09-14
  • Genre: Medical
  • Pages : 458
  • ISBN 10 : 9780128137635

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Translational Systems Medicine and Oral Disease Excerpt :

Translational Systems Medicine and Oral Disease bridges the gap between discovery science and clinical oral medicine, providing opportunities for both the scientific and clinical communities to understand how to apply recent findings in cell biology, genomic profiling, and systems medicine to favorably impact the diagnosis, treatment and management of oral diseases. Fully illustrated chapters from leading international contributors explore clinical applications of genomics, proteomics, metabolomics, microbiomics and epigenetics, as well as analytic methods and functional omics in oral medicine. Disease specific chapters detail systems approaches to periodontal disease, salivary gland diseases, oral cancer, bone disease, and autoimmune disease, among others. In addition, the book emphasizes biological synergisms across disciplines and their translational impact for clinicians, researchers and students in the fields of dentistry, dermatology, gastroenterology, otolaryngology, oncology and primary care. Presents the work of leading international researchers and clinicians who speak on the clinical applications of genomics, proteomics, metabolomics, microbiomics, and epigenetics, as well as analytic methods and functional omics in oral medicine Provides full-color, richly illustrated chapters that examine systems approaches to periodontal disease, salivary gland diseases, oral cancer, bone disease and autoimmune diseases Includes clinical case studies that illustrate examples of oral disease diagnostics and management, highlighting points of key importance for the reader Emphasizes biological synergisms across disciplines and their translational impact for clinicians, researchers, and students in the fields of dentistry, dermatology, gastroenterology, otolaryngology, oncology, and primary care

Genetics of the Dog Book

Genetics of the Dog


  • Author : Elaine A. Ostrander
  • Publisher : CABI
  • Release Date : 2012-01-01
  • Genre: Dogs
  • Pages : 537
  • ISBN 10 : 1845939417

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Genetics of the Dog Excerpt :

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.

Advances in Vision Research  Volume II Book

Advances in Vision Research Volume II


  • Author : Gyan Prakash
  • Publisher : Springer
  • Release Date : 2018-11-03
  • Genre: Medical
  • Pages : 468
  • ISBN 10 : 9789811308840

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Advances in Vision Research Volume II Excerpt :

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.

The Human Genome Book

The Human Genome


  • Author : Julia E. Richards
  • Publisher : Academic Press
  • Release Date : 2010-12-12
  • Genre: Science
  • Pages : 420
  • ISBN 10 : 0080918654

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The Human Genome Excerpt :

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 Book

Lashley s Essentials of Clinical Genetics in Nursing Practice Second Edition


  • Author : Christine E. Kasper, PhD, RN, FAAN, FACSM
  • Publisher : Springer Publishing Company
  • Release Date : 2015-09-16
  • Genre: Medical
  • Pages : 425
  • ISBN 10 : 9780826129130

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Lashley s Essentials of Clinical Genetics in Nursing Practice Second Edition Excerpt :

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 gradu

Systematic Evaluation of the Mouse Eye Book

Systematic Evaluation of the Mouse Eye


  • Author : Richard S. Smith
  • Publisher : CRC Press
  • Release Date : 2001-12-20
  • Genre: Medical
  • Pages : 383
  • ISBN 10 : 9781420041606

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Systematic Evaluation of the Mouse Eye Excerpt :

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 i