Genetics and Genomics of Eye Disease

Genetics and Genomics of Eye Disease
Author: Xiaoyi Raymond Gao
Publsiher: Academic Press
Total Pages: 383
Release: 2019-09-12
Genre: Science
ISBN: 9780128167274

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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
Author: Graeme C.M. Black,Jane L. Ashworth,Panagiotis I. Sergouniotis
Publsiher: Academic Press
Total Pages: 496
Release: 2022-01-18
Genre: Medical
ISBN: 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

Translational Cardiometabolic Genomic Medicine

Translational Cardiometabolic Genomic Medicine
Author: Annabelle Rodriguez-Oquendo
Publsiher: Academic Press
Total Pages: 352
Release: 2015-09-07
Genre: Science
ISBN: 9780128004746

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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 Genetics of Inherited Eye Disorders

Molecular Genetics of Inherited Eye Disorders
Author: Alan F. Wright
Publsiher: CRC Press
Total Pages: 528
Release: 1994-12-01
Genre: Medical
ISBN: 3718654938

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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.

Genetics in Ophthalmology

Genetics in Ophthalmology
Author: B. Wissinger,Susanne Kohl,U. Langenbeck
Publsiher: Karger Medical and Scientific Publishers
Total Pages: 223
Release: 2003-01-01
Genre: Medical
ISBN: 9783805575782

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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.

Advances in Vision Research Volume I

Advances in Vision Research  Volume I
Author: Gyan Prakash,Takeshi Iwata
Publsiher: Springer
Total Pages: 523
Release: 2017-04-24
Genre: Medical
ISBN: 9784431565116

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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.

Genetic Diseases of the Eye

Genetic Diseases of the Eye
Author: Elias I. Traboulsi
Publsiher: OUP USA
Total Pages: 923
Release: 2012-01-12
Genre: Medical
ISBN: 9780195326147

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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.

Advances in Vision Research Volume II

Advances in Vision Research  Volume II
Author: Gyan Prakash,Takeshi Iwata
Publsiher: Springer
Total Pages: 468
Release: 2018-11-03
Genre: Medical
ISBN: 9789811308840

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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.

Retinal Degenerative Diseases

Retinal Degenerative Diseases
Author: Matthew M. LaVail,John Ash,Robert E. Anderson,Joe G. Hollyfield,Christian Grimm
Publsiher: Springer Science & Business Media
Total Pages: 864
Release: 2011-12-21
Genre: Medical
ISBN: 9781461406310

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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.

Molecular Genetics of Ocular Disease

Molecular Genetics of Ocular Disease
Author: Janey L. Wiggs
Publsiher: Wiley-Liss
Total Pages: 240
Release: 1995
Genre: Medical
ISBN: UOM:39015017425938

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Provides an overview of the molecular genetics of ocular disease. An introductory chapter covers the important first principles as well as the more recent techniques of molecular genetics. Other chapters discuss the molecular biology and molecular genetics of selected eye disorders. Contains pertinent information for the diagnosis, treatment and comprehension of the pathophysiology resulting in these disorders.

Atlas of Inherited Retinal Diseases

Atlas of Inherited Retinal Diseases
Author: Stephen H. Tsang,Tarun Sharma
Publsiher: Springer
Total Pages: 274
Release: 2018-12-21
Genre: Medical
ISBN: 9783319950464

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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.

An Introduction to Human Molecular Genetics

An Introduction to Human Molecular Genetics
Author: Jack J. Pasternak
Publsiher: John Wiley & Sons
Total Pages: 656
Release: 2005-06-14
Genre: Science
ISBN: 9780471719175

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An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.

Genetics Genomics and Breeding of Potato

Genetics  Genomics and Breeding of Potato
Author: James M. Bradeen,Chittaranjan Kole
Publsiher: CRC Press
Total Pages: 326
Release: 2016-04-19
Genre: Science
ISBN: 9781439868850

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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

Human Genes and Genomes

Human Genes and Genomes
Author: Leon E. Rosenberg,Diane Drobnis Rosenberg
Publsiher: Academic Press
Total Pages: 446
Release: 2012-05-21
Genre: Science
ISBN: 9780123852137

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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

Genomic Medicine

Genomic Medicine
Author: Dhavendra Kumar,Charis Eng
Publsiher: Oxford Monographs on Medical G
Total Pages: 814
Release: 2014-10-15
Genre: Medical
ISBN: 9780199896028

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