Genomic Disorders
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Genomics Of Rare Diseases
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Author : Claudia Gonzaga-Jauregui
language : en
Publisher: Academic Press
Release Date : 2021-06-12
Genomics Of Rare Diseases written by Claudia Gonzaga-Jauregui and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-06-12 with Medical categories.
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians
Genomic Disorders
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Author : James R. Lupski
language : en
Publisher: Humana Press
Release Date : 2010-10-13
Genomic Disorders written by James R. Lupski and has been published by Humana Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-10-13 with Medical categories.
A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Genetic Disorders
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Author : Robin Santos Doak
language : en
Publisher: Benchmark Education Company
Release Date : 2011
Genetic Disorders written by Robin Santos Doak and has been published by Benchmark Education Company this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011 with Genetic disorders categories.
Readers learn about different types of genetic disorders. They learn how some are passed down from parent to child while others happen when the environment affects genes.
Genomics And Health In The Developing World
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Author : Dhavendra Kumar
language : en
Publisher: Oxford University Press
Release Date : 2012-06-14
Genomics And Health In The Developing World written by Dhavendra Kumar and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-06-14 with Medical categories.
Readership: Geneticists and clinicians worldwide in addition to graduate students and researchers interested in populations and genomics
Human Genes And Genomes
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Author : Leon E. Rosenberg
language : en
Publisher: Academic Press
Release Date : 2012-05-18
Human Genes And Genomes written by Leon E. Rosenberg and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-05-18 with Medical categories.
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
Human Genetics And Genomics Includes Wiley E Text
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Author : Bruce R. Korf
language : en
Publisher: John Wiley & Sons
Release Date : 2013-02-11
Human Genetics And Genomics Includes Wiley E Text written by Bruce R. Korf and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-02-11 with Medical categories.
This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Human Genetics And Genomics
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Author : Bruce R. Korf
language : en
Publisher: John Wiley & Sons
Release Date : 2012-11-19
Human Genetics And Genomics written by Bruce R. Korf and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-11-19 with Medical categories.
This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Genetics And Genomics Of Eye Disease
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Author : Xiaoyi Raymond Gao
language : en
Publisher: Academic Press
Release Date : 2019-09-12
Genetics And Genomics Of Eye Disease written by Xiaoyi Raymond Gao and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-09-12 with Science categories.
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
New Clinical Genetics Fourth Edition
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Author : Andrew Read
language : en
Publisher: Scion Publishing Ltd
Release Date : 2020-10-23
New Clinical Genetics Fourth Edition written by Andrew Read and has been published by Scion Publishing Ltd this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-10-23 with Medical categories.
New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine. New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding. Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking. Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders. The unique case-based structure and format remains the same, but substantial new material has been added to cover: polygenic risk scores – now starting to become useful clinical service tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient’s whole exome for the cause of their problem
Life Histories Of Genetic Disease
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Author : Andrew J. Hogan
language : en
Publisher: Johns Hopkins University Press+ORM
Release Date : 2016-10-30
Life Histories Of Genetic Disease written by Andrew J. Hogan and has been published by Johns Hopkins University Press+ORM this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-10-30 with Medical categories.
A richly detailed history that “uncovers the challenges and limitations of our increasing reliance on genetic data in medical decision making” (Shobita Parthasarathy, author of Building Genetic Medicine). Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing expectant parents to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In this book, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies offer whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.