Author: Juan Carlos Gomez-Verjan
Publisher: Springer Nature
ISBN: 3030409554
Category : Medical
Languages : en
Pages : 274
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.
Clinical Genetics and Genomics of Aging
Author: Juan Carlos Gomez-Verjan
Publisher: Springer Nature
ISBN: 3030409554
Category : Medical
Languages : en
Pages : 274
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.
Publisher: Springer Nature
ISBN: 3030409554
Category : Medical
Languages : en
Pages : 274
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.
Aging of the Genome
Author: Jan Vijg
Publisher: OUP Oxford
ISBN: 0191524581
Category : Science
Languages : en
Pages : 384
Book Description
Aging has long since been ascribed to the gradual accumulation of DNA mutations in the genome of somatic cells. However, it is only recently that the necessary sophisticated technology has been developed to begin testing this theory and its consequences. Vijg critically reviews the concept of genomic instability as a possible universal cause of aging in the context of a new, holistic understanding of genome functioning in complex organisms resulting from recent advances in functional genomics and systems biology. It provides an up-to-date synthesis of current research, as well as a look ahead to the design of strategies to retard or reverse the deleterious effects of aging. This is particularly important in a time when we are urgently trying to unravel the genetic component of aging-related diseases. Moreover, there is a growing public recognition of the imperative of understanding more about the underlying biology of aging, driven by continuing demographic change.
Publisher: OUP Oxford
ISBN: 0191524581
Category : Science
Languages : en
Pages : 384
Book Description
Aging has long since been ascribed to the gradual accumulation of DNA mutations in the genome of somatic cells. However, it is only recently that the necessary sophisticated technology has been developed to begin testing this theory and its consequences. Vijg critically reviews the concept of genomic instability as a possible universal cause of aging in the context of a new, holistic understanding of genome functioning in complex organisms resulting from recent advances in functional genomics and systems biology. It provides an up-to-date synthesis of current research, as well as a look ahead to the design of strategies to retard or reverse the deleterious effects of aging. This is particularly important in a time when we are urgently trying to unravel the genetic component of aging-related diseases. Moreover, there is a growing public recognition of the imperative of understanding more about the underlying biology of aging, driven by continuing demographic change.
Handbook of the Biology of Aging
Author: Nicolas Musi
Publisher: Academic Press
ISBN: 0124116205
Category : Medical
Languages : en
Pages : 576
Book Description
Handbook of the Biology of Aging, Eighth Edition, provides readers with an update on the rapid progress in the research of aging. It is a comprehensive synthesis and review of the latest and most important advances and themes in modern biogerontology, and focuses on the trend of 'big data' approaches in the biological sciences, presenting new strategies to analyze, interpret, and understand the enormous amounts of information being generated through DNA sequencing, transcriptomic, proteomic, and the metabolomics methodologies applied to aging related problems. The book includes discussions on longevity pathways and interventions that modulate aging, innovative new tools that facilitate systems-level approaches to aging research, the mTOR pathway and its importance in age-related phenotypes, new strategies to pharmacologically modulate the mTOR pathway to delay aging, the importance of sirtuins and the hypoxic response in aging, and how various pathways interact within the context of aging as a complex genetic trait, amongst others. - Covers the key areas in biological gerontology research in one volume, with an 80% update from the previous edition - Edited by Matt Kaeberlein and George Martin, highly respected voices and researchers within the biology of aging discipline - Assists basic researchers in keeping abreast of research and clinical findings outside their subdiscipline - Presents information that will help medical, behavioral, and social gerontologists in understanding what basic scientists and clinicians are discovering - New chapters on genetics, evolutionary biology, bone aging, and epigenetic control - Provides a close examination of the diverse research being conducted today in the study of the biology of aging, detailing recent breakthroughs and potential new directions
Publisher: Academic Press
ISBN: 0124116205
Category : Medical
Languages : en
Pages : 576
Book Description
Handbook of the Biology of Aging, Eighth Edition, provides readers with an update on the rapid progress in the research of aging. It is a comprehensive synthesis and review of the latest and most important advances and themes in modern biogerontology, and focuses on the trend of 'big data' approaches in the biological sciences, presenting new strategies to analyze, interpret, and understand the enormous amounts of information being generated through DNA sequencing, transcriptomic, proteomic, and the metabolomics methodologies applied to aging related problems. The book includes discussions on longevity pathways and interventions that modulate aging, innovative new tools that facilitate systems-level approaches to aging research, the mTOR pathway and its importance in age-related phenotypes, new strategies to pharmacologically modulate the mTOR pathway to delay aging, the importance of sirtuins and the hypoxic response in aging, and how various pathways interact within the context of aging as a complex genetic trait, amongst others. - Covers the key areas in biological gerontology research in one volume, with an 80% update from the previous edition - Edited by Matt Kaeberlein and George Martin, highly respected voices and researchers within the biology of aging discipline - Assists basic researchers in keeping abreast of research and clinical findings outside their subdiscipline - Presents information that will help medical, behavioral, and social gerontologists in understanding what basic scientists and clinicians are discovering - New chapters on genetics, evolutionary biology, bone aging, and epigenetic control - Provides a close examination of the diverse research being conducted today in the study of the biology of aging, detailing recent breakthroughs and potential new directions
Epigenetics of Aging
Author: Trygve O. Tollefsbol
Publisher: Springer Science & Business Media
ISBN: 1441906398
Category : Medical
Languages : en
Pages : 462
Book Description
Recent studies have indicated that epigenetic processes may play a major role in both cellular and organismal aging. These epigenetic processes include not only DNA methylation and histone modifications, but also extend to many other epigenetic mediators such as the polycomb group proteins, chromosomal position effects, and noncoding RNA. The topics of this book range from fundamental changes in DNA methylation in aging to the most recent research on intervention into epigenetic modifications to modulate the aging process. The major topics of epigenetics and aging covered in this book are: 1) DNA methylation and histone modifications in aging; 2) Other epigenetic processes and aging; 3) Impact of epigenetics on aging; 4) Epigenetics of age-related diseases; 5) Epigenetic interventions and aging: and 6) Future directions in epigenetic aging research. The most studied of epigenetic processes, DNA methylation, has been associated with cellular aging and aging of organisms for many years. It is now apparent that both global and gene-specific alterations occur not only in DNA methylation during aging, but also in several histone alterations. Many epigenetic alterations can have an impact on aging processes such as stem cell aging, control of telomerase, modifications of telomeres, and epigenetic drift can impact the aging process as evident in the recent studies of aging monozygotic twins. Numerous age-related diseases are affected by epigenetic mechanisms. For example, recent studies have shown that DNA methylation is altered in Alzheimer’s disease and autoimmunity. Other prevalent diseases that have been associated with age-related epigenetic changes include cancer and diabetes. Paternal age and epigenetic changes appear to have an effect on schizophrenia and epigenetic silencing has been associated with several of the progeroid syndromes of premature aging. Moreover, the impact of dietary or drug intervention into epigenetic processes as they affect normal aging or age-related diseases is becoming increasingly feasible.
Publisher: Springer Science & Business Media
ISBN: 1441906398
Category : Medical
Languages : en
Pages : 462
Book Description
Recent studies have indicated that epigenetic processes may play a major role in both cellular and organismal aging. These epigenetic processes include not only DNA methylation and histone modifications, but also extend to many other epigenetic mediators such as the polycomb group proteins, chromosomal position effects, and noncoding RNA. The topics of this book range from fundamental changes in DNA methylation in aging to the most recent research on intervention into epigenetic modifications to modulate the aging process. The major topics of epigenetics and aging covered in this book are: 1) DNA methylation and histone modifications in aging; 2) Other epigenetic processes and aging; 3) Impact of epigenetics on aging; 4) Epigenetics of age-related diseases; 5) Epigenetic interventions and aging: and 6) Future directions in epigenetic aging research. The most studied of epigenetic processes, DNA methylation, has been associated with cellular aging and aging of organisms for many years. It is now apparent that both global and gene-specific alterations occur not only in DNA methylation during aging, but also in several histone alterations. Many epigenetic alterations can have an impact on aging processes such as stem cell aging, control of telomerase, modifications of telomeres, and epigenetic drift can impact the aging process as evident in the recent studies of aging monozygotic twins. Numerous age-related diseases are affected by epigenetic mechanisms. For example, recent studies have shown that DNA methylation is altered in Alzheimer’s disease and autoimmunity. Other prevalent diseases that have been associated with age-related epigenetic changes include cancer and diabetes. Paternal age and epigenetic changes appear to have an effect on schizophrenia and epigenetic silencing has been associated with several of the progeroid syndromes of premature aging. Moreover, the impact of dietary or drug intervention into epigenetic processes as they affect normal aging or age-related diseases is becoming increasingly feasible.
Molecular Medicine
Author: R.J. Trent
Publisher: Academic Press
ISBN: 0123814510
Category : Medical
Languages : en
Pages : 348
Book Description
Molecular Medicine is the application of genetic or DNA-based knowledge to the modern practice of medicine. Molecular Medicine, 4e, provides contemporary insights into how the genetic revolution is influencing medical thinking and practice. The new edition includes recent changes in personalized medicine, new growth in omics and direct-to-consumer DNA testing, while focusing on advances in the Human Genome project and implications of the advances in clinical medicine. Graduate students, researchers, clinicians and allied health professionals will appreciate the background history and clinical application of up-to-date molecular advances. Extensively revised to incorporate the results of the Human Genome Project, it provides the latest developments in molecular medicine The only book in Molecular Medicine to reach its fourth edition Identifies current practice as well as future developments Presents extensive tables, well presented figures and resources for further understanding
Publisher: Academic Press
ISBN: 0123814510
Category : Medical
Languages : en
Pages : 348
Book Description
Molecular Medicine is the application of genetic or DNA-based knowledge to the modern practice of medicine. Molecular Medicine, 4e, provides contemporary insights into how the genetic revolution is influencing medical thinking and practice. The new edition includes recent changes in personalized medicine, new growth in omics and direct-to-consumer DNA testing, while focusing on advances in the Human Genome project and implications of the advances in clinical medicine. Graduate students, researchers, clinicians and allied health professionals will appreciate the background history and clinical application of up-to-date molecular advances. Extensively revised to incorporate the results of the Human Genome Project, it provides the latest developments in molecular medicine The only book in Molecular Medicine to reach its fourth edition Identifies current practice as well as future developments Presents extensive tables, well presented figures and resources for further understanding
Medical Genetics
Author: Lynn B. Jorde
Publisher:
ISBN: 9780323035682
Category : Genetic disorders
Languages : en
Pages : 0
Book Description
This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics, the societal implications of technologies, the Human Genome Project, cloning, genetic enhancement, and embryonic stem cell research, new tumor suppressor genes and oncogenes, and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitate review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Its coverage includes ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features. The smart way to study! Elsevier titles with STUDENT CONSULT will help you master difficult concepts and study more efficiently in print and online! Perform rapid searches. Integrate bonus content from other disciplines. Download text to your handheld device. And a lot more. Each STUDENT CONSULT title comes with full text online, a unique image library, case studies, USMLE style questions, and online note-taking to enhance your learning experience. Your purchase of this book entitles you to access www.studentconsult.com at no extra charge. This innovative web site offers you... Access to the complete text and illustrations of this book. Integration links to bonus content in other STUDENT CONSULT titles. Content clipping for your handheld. An interactive community center with a wealth of additional resources. The more STUDENT CONSULT titles you buy, the more resources you can access online! Look for the STUDENT CONSULT logo on your favorite Elsevier textbooks! Features mini-summaries that appear in bold throughout each chapter. Supplies study questions and suggested readings at the end of each chapter. Contains a detailed glossary at the end of the book. Offers Clinical Commentary boxes that present detailed coverage of the most important genetic diseases and provide examples of modern clinical management. Demonstrates clinical relevance with boxed patient/family vignettes and coverage of ethical, legal, and social issues. Provides visual reinforcement and easy access to key information with over 230 photographs, illustrations, and tables. Includes a companion website with continuing content updates, additional clinical images, and more!
Publisher:
ISBN: 9780323035682
Category : Genetic disorders
Languages : en
Pages : 0
Book Description
This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics, the societal implications of technologies, the Human Genome Project, cloning, genetic enhancement, and embryonic stem cell research, new tumor suppressor genes and oncogenes, and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitate review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Its coverage includes ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features. The smart way to study! Elsevier titles with STUDENT CONSULT will help you master difficult concepts and study more efficiently in print and online! Perform rapid searches. Integrate bonus content from other disciplines. Download text to your handheld device. And a lot more. Each STUDENT CONSULT title comes with full text online, a unique image library, case studies, USMLE style questions, and online note-taking to enhance your learning experience. Your purchase of this book entitles you to access www.studentconsult.com at no extra charge. This innovative web site offers you... Access to the complete text and illustrations of this book. Integration links to bonus content in other STUDENT CONSULT titles. Content clipping for your handheld. An interactive community center with a wealth of additional resources. The more STUDENT CONSULT titles you buy, the more resources you can access online! Look for the STUDENT CONSULT logo on your favorite Elsevier textbooks! Features mini-summaries that appear in bold throughout each chapter. Supplies study questions and suggested readings at the end of each chapter. Contains a detailed glossary at the end of the book. Offers Clinical Commentary boxes that present detailed coverage of the most important genetic diseases and provide examples of modern clinical management. Demonstrates clinical relevance with boxed patient/family vignettes and coverage of ethical, legal, and social issues. Provides visual reinforcement and easy access to key information with over 230 photographs, illustrations, and tables. Includes a companion website with continuing content updates, additional clinical images, and more!
Chance, Development, and Aging
Author: Caleb Ellicott Finch
Publisher: Oxford University Press, USA
ISBN: 9780195133615
Category : Aging
Languages : en
Pages : 298
Book Description
Chance, Development, and Aging analyzes a subject that has been largelyignored until now: the sources of individual variations in development and agingthat cannot be attributed to genes or the external environment. And by doing so,this book develops new insight on aging and the individual. Gathering andscrutinizing evidence from diverse sources, the authors examine thosedifferences in individuals that arise during development and those that mightinfluence outcomes of aging. Through their research, they pose a new set ofquestions about the contribution of chance events during development, andalthough chance variations during development are well known within thesub-fields of developmental biology, there has been little recognition of theiraffects on variations in adult form and function. Here, the authors confrontthis issue with a fascinating hypothesis: chance variations in form andfunction, arising through development, affect individual base-line functions andindividual responses to the external environment and so modify outcomes ofaging. This book will undoubtedly benefit gerontologists, geneticists,reproductive biologists, and physiologists, and it will fascinate all thoseinterested in the outcomes of aging.
Publisher: Oxford University Press, USA
ISBN: 9780195133615
Category : Aging
Languages : en
Pages : 298
Book Description
Chance, Development, and Aging analyzes a subject that has been largelyignored until now: the sources of individual variations in development and agingthat cannot be attributed to genes or the external environment. And by doing so,this book develops new insight on aging and the individual. Gathering andscrutinizing evidence from diverse sources, the authors examine thosedifferences in individuals that arise during development and those that mightinfluence outcomes of aging. Through their research, they pose a new set ofquestions about the contribution of chance events during development, andalthough chance variations during development are well known within thesub-fields of developmental biology, there has been little recognition of theiraffects on variations in adult form and function. Here, the authors confrontthis issue with a fascinating hypothesis: chance variations in form andfunction, arising through development, affect individual base-line functions andindividual responses to the external environment and so modify outcomes ofaging. This book will undoubtedly benefit gerontologists, geneticists,reproductive biologists, and physiologists, and it will fascinate all thoseinterested in the outcomes of aging.
The Epidemiology of Aging
Author: Anne Newman
Publisher: Springer Science & Business Media
ISBN: 9400750617
Category : Medical
Languages : en
Pages : 611
Book Description
The average age of the world’s population is increasing at an unprecedented rate and this increase is changing the world. This “Silver tsunami” emphasizes the need to provide advanced training in epidemiology and increase the cadre of experts in the study of aging. This book is designed to summarize unique methodological issues relevant to the study of aging, biomarkers of aging and the biology/physiology of aging and in-depth discussions of the etiology and epidemiology of common geriatric syndromes and diseases. Contributing authors in the book represent many disciplines, not only epidemiology and clinical geriatrics, but also demography, health services, research, cardiovascular disease, diabetes, psychiatry, neurology, social services, musculoskeletal diseases and cancer. The aim of the book is to provide a broad multidisciplinary background for any student/researcher interested in aging. The material in the book is organized and comprehensive. It represents the most up-to-date information on the scientific issues in aging research written by academics who specialize in research and training in the broad field of aging. The structure and organization of the book reflects our course series in the Epidemiology of Aging starting with the broad issues of demography and methodology, and then addressing specific health conditions and geriatric conditions common to older persons.
Publisher: Springer Science & Business Media
ISBN: 9400750617
Category : Medical
Languages : en
Pages : 611
Book Description
The average age of the world’s population is increasing at an unprecedented rate and this increase is changing the world. This “Silver tsunami” emphasizes the need to provide advanced training in epidemiology and increase the cadre of experts in the study of aging. This book is designed to summarize unique methodological issues relevant to the study of aging, biomarkers of aging and the biology/physiology of aging and in-depth discussions of the etiology and epidemiology of common geriatric syndromes and diseases. Contributing authors in the book represent many disciplines, not only epidemiology and clinical geriatrics, but also demography, health services, research, cardiovascular disease, diabetes, psychiatry, neurology, social services, musculoskeletal diseases and cancer. The aim of the book is to provide a broad multidisciplinary background for any student/researcher interested in aging. The material in the book is organized and comprehensive. It represents the most up-to-date information on the scientific issues in aging research written by academics who specialize in research and training in the broad field of aging. The structure and organization of the book reflects our course series in the Epidemiology of Aging starting with the broad issues of demography and methodology, and then addressing specific health conditions and geriatric conditions common to older persons.
Genetic Disorders Among Arab Populations
Author: Ahmad S. Teebi
Publisher:
ISBN: 9780195093056
Category : Medical
Languages : en
Pages : 538
Book Description
Few regions of the world have a more varied physiography or a richer ethnic, religious, social, and cultural mix than the Arab world. As a consequence, Arabs are genetically diverse despite their linguistic and religious cohesion. High but variable rates of inbreeding prevail in all Arab countries with numerous examples of isolates among them. These include some Bedouin groups, Nubians, Druze, Jews, and others. Arab populations have high frequencies of autosomal recessive disorders, homozygosity of autosomal dominant and X-linked traits, and a wealth of new syndromes and variants, the majority of which are autosomal recessive. Genetic disorders that cause major health problems include hemoglobinopathies, neurogenetic disorders, inherited metabolic diseases, and inborn error of morphogenesis. Because of their characteristically high prevalence, some of these disorders are considered markers for Arab populations. This book presents the unique profile of genetic disorders and variants in Arabs. In addition, it describes their unusual demographic pattern including fertility rates and other population dimensions, family structure, magnitude and effects of consanguineous marriages and indicators of health and disease. Genetic counseling and the distinctive cultural and religious attitudes towards various genetic issues are also presented. Disorders that have increased tribal occurrences or are limited to large kindreds, as well as small geographic or religious isolates, are highlighted to facilitate their recognition, study, and management.
Publisher:
ISBN: 9780195093056
Category : Medical
Languages : en
Pages : 538
Book Description
Few regions of the world have a more varied physiography or a richer ethnic, religious, social, and cultural mix than the Arab world. As a consequence, Arabs are genetically diverse despite their linguistic and religious cohesion. High but variable rates of inbreeding prevail in all Arab countries with numerous examples of isolates among them. These include some Bedouin groups, Nubians, Druze, Jews, and others. Arab populations have high frequencies of autosomal recessive disorders, homozygosity of autosomal dominant and X-linked traits, and a wealth of new syndromes and variants, the majority of which are autosomal recessive. Genetic disorders that cause major health problems include hemoglobinopathies, neurogenetic disorders, inherited metabolic diseases, and inborn error of morphogenesis. Because of their characteristically high prevalence, some of these disorders are considered markers for Arab populations. This book presents the unique profile of genetic disorders and variants in Arabs. In addition, it describes their unusual demographic pattern including fertility rates and other population dimensions, family structure, magnitude and effects of consanguineous marriages and indicators of health and disease. Genetic counseling and the distinctive cultural and religious attitudes towards various genetic issues are also presented. Disorders that have increased tribal occurrences or are limited to large kindreds, as well as small geographic or religious isolates, are highlighted to facilitate their recognition, study, and management.
Genomics of Rare Diseases
Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 318
Book Description
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
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 318
Book Description
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