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Genomics of Rare Diseases

Genomics of Rare Diseases
  • Author : Claudia Gonzaga-Jauregui,James R. Lupski
  • Publisher :Unknown
  • Release Date :2021-06-01
  • Total pages :304
  • ISBN : 9780128204368
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Summary : 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

Genomics of Rare Diseases

Genomics of Rare Diseases
  • Author : Claudia Gonzaga-Jauregui,James R. Lupski
  • Publisher :Unknown
  • Release Date :2021-03-15
  • Total pages :304
  • ISBN : 0128201401
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Summary : It is estimated that approximately 350 million people worldwide are affected by a rare disorder. While individually rare, as a group, rare diseases constitute a substantial healthcare problem. The majority of these rare diseases have a significant genetic component, either as a penetrant driver of the disorder or as a major susceptibility factor for developing the disease. Many patients can go undiagnosed for decades while receiving inappropriate and costly treatments for their condition uninformed by the actual molecular defect and the underlying biology of disease. Genomics of Rare Diseases: Understanding Rare Disease Genetics Through Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad but deep understanding of our current knowledge of rare diseases through a genomics lens and examines what this teaches us about disease biology. A clear understanding of the latest molecular and genomic technologies that have already been used to elucidate the molecular causes of more than 5,000 genetic disorders will bring readers closer to unraveling the many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that studying these disorders provide 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 methodology, 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

Rare Diseases: Diagnosis, Therapies and Hope

Rare Diseases: Diagnosis, Therapies and Hope
  • Author : Ana Sanfilippo and
  • Publisher :Unknown
  • Release Date :2017-04-20
  • Total pages :229
  • ISBN : 1366067355
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Summary : This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases. It is unique in that it goes beyond the clinical side of the topic and includes very personal stories told by the families living with rare diseases. "These rare diseases are collectively so common, affecting over 300 million globally," said co-author Jimmy Lin, MD, PhD, MHS. The key to assembling such a comprehensive resource was a year long process to examine the topic from all sides. The book brings together interviews with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. "We are part of a growing movement to raise global awareness of rare diseases, and we are so pleased to be able to offer one of the early books for families living with rare diseases," said co-author Ana Sanfilippo. The book includes expert interviews and remarkable stories from families like: - Amylynne Volker whose son was the first child saved through DNA sequencing -Dallas police officer Mark Dant who raised over $3 million for research that saved his son Ryan's life -John Crowley, who saved his own children's lives through creating a new company to develop a new drug, which is now the standard of care -Retta Beery, whose twins, Noah and Alexis, are alive due to her own exhaustive medical research and genomics. Please note that there is no markup on the book.

Rare Diseases and Orphan Products

Rare Diseases and Orphan Products
  • Author : Institute of Medicine,Board on Health Sciences Policy,Committee on Accelerating Rare Diseases Research and Orphan Product Development
  • Publisher :Unknown
  • Release Date :2011-04-03
  • Total pages :442
  • ISBN : 9780309158060
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Summary : Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.

Role of Biomarkers in Medicine

Role of Biomarkers in Medicine
  • Author : Mu Wang,Frank Witzmann
  • Publisher :Unknown
  • Release Date :2016-08-17
  • Total pages :260
  • ISBN : 9789535125051
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Summary : The use of biomarkers in basic and clinical research has become routine in many areas of medicine. They are accepted as molecular signatures that have been well characterized and repeatedly shown to be capable of predicting relevant disease states or clinical outcomes. In Role of Biomarkers in Medicine, expert researchers in their individual field have reviewed many biomarkers or potential biomarkers in various types of diseases. The topics address numerous aspects of medicine, demonstrating the current conceptual status of biomarkers as clinical tools and as surrogate endpoints in clinical research. This book highlights the current state of biomarkers and will aid scientists and clinicians to develop better and more specific biomarkers for disease management.

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research
  • Author : Arvin M. Gouw,Amritha Jaishankar,George A. Brooks
  • Publisher :Unknown
  • Release Date :2020-03-03
  • Total pages :229
  • ISBN : 9782889635245
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Summary : A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer from rare diseases. Out of the 7000+ known rare diseases, less than 5% have approved treatments. Rare diseases are frequently chronic, progressive, degenerative, and life-threatening, compromising the lives of patients by loss of autonomy. In the USA, it can take years for a rare disease patient to receive a correct diagnosis. The socioeconomic burden for rare disease is huge. For those living with diagnosed rare diseases, there is no support system or resource bank for navigating financial, educational, or other aspects of having a rare disease. The purpose of this Research Topic is to bring together leading researchers, non-profit organizations, healthcare providers/diagnostic companies, and pharma/biotech/CROs in the field to provide a broad perspective on the latest advances, challenges, and opportunities in rare disease research. A genomic approach to rare disease research is becoming the key to discovering unknown causes behind these syndromes. Genomic rare disease research has attracted not only academic researchers but also researchers from the biotech/pharma and non-profit organizations. The breadth and depth of current genomic approaches in rare disease is largely unexplored. While the creation of novel CRISPR mouse models and the use of NGS (ChIP Seq, RNA Seq, etc) have become more routine for fields such as oncology, rare disease researchers are now making advances in modifying and applying these approaches for rare diseases. This Research Topic provides a fruitful platform for rare disease researchers to share their findings and advance the field of genomics research in the rare disease space.

Genetics and Genomics of Eye Disease

Genetics and Genomics of Eye Disease
  • Author : Xiaoyi Raymond Gao
  • Publisher :Unknown
  • Release Date :2019-09-12
  • Total pages :383
  • ISBN : 9780128167274
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Summary : 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

Rare Diseases and Orphan Drugs

Rare Diseases and Orphan Drugs
  • Author : Jules J. Berman
  • Publisher :Unknown
  • Release Date :2014-05-26
  • Total pages :400
  • ISBN : 9780124200098
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Summary : Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. Understanding the complex steps in the development of common diseases, such as cancer, cardiovascular disease, and metabolic diseases, has proven a difficult problem. Rare diseases, however, are often caused by aberrations of a single gene. In rare diseases, we may study how specific genetic defects can trigger a series of events that lead to the expression of a particular disease. Often, the disease process manifested in a certain rare disease is strikingly similar to the disease process observed in a common disease. This work ties the lessons learned about rare diseases to our understanding of common ones. Chapters covering the number of common diseases are minimized, while rare diseases are introduced as single diseases or as members of diseases classes. After reading this book, readers will appreciate how further research into the rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases, rare or common. Makes rare diseases relevant to clinicians and researchers by tying lessons learned about the rare diseases to our understanding of the common diseases Stresses basic pathologic mechanisms that account for human disease (e.g., disorders of cell development, replication, maintenance, function and structure), that can be understood without prior training in pathology Discusses advanced concepts in molecular biology and genetics in a simple, functional context appropriate for medical trainees and new researchers Offers insights into how further research into rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases.

The Genome Odyssey

The Genome Odyssey
  • Author : Dr. Euan Angus Ashley
  • Publisher :Unknown
  • Release Date :2021-02-23
  • Total pages :352
  • ISBN : 9781250234971
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Summary : In The Genome Odyssey, Dr. Euan Ashley, Stanford professor of medicine and genetics, brings the breakthroughs of precision medicine to vivid life through the real diagnostic journeys of his patients and the tireless efforts of his fellow doctors and scientists as they hunt to prevent, predict, and beat disease. Since the Human Genome Project was completed in 2003, the price of genome sequencing has dropped at a staggering rate. It’s as if the price of a Ferrari went from $350,000 to a mere forty cents. Through breakthroughs made by Dr. Ashley’s team at Stanford and other dedicated groups around the world, analyzing the human genome has decreased from a heroic multibillion dollar effort to a single clinical test costing less than $1,000. For the first time we have within our grasp the ability to predict our genetic future, to diagnose and prevent disease before it begins, and to decode what it really means to be human. In The Genome Odyssey, Dr. Ashley details the medicine behind genome sequencing with clarity and accessibility. More than that, with passion for his subject and compassion for his patients, he introduces readers to the dynamic group of researchers and doctor detectives who hunt for answers, and to the pioneering patients who open up their lives to the medical community during their search for diagnoses and cures. He describes how he led the team that was the first to analyze and interpret a complete human genome, how they broke genome speed records to diagnose and treat a newborn baby girl whose heart stopped five times on the first day of her life, and how they found a boy with tumors growing inside his heart and traced the cause to a missing piece of his genome. These patients inspire Dr. Ashley and his team as they work to expand the boundaries of our medical capabilities and to envision a future where genome sequencing is available for all, where medicine can be tailored to treat specific diseases and to decode pathogens like viruses at the genomic level, and where our medical system as we know it has been completely revolutionized.

The Genetics of African Populations in Health and Disease

The Genetics of African Populations in Health and Disease
  • Author : Muntaser E. Ibrahim,Charles N. Rotimi
  • Publisher :Unknown
  • Release Date :2019-12-19
  • Total pages :348
  • ISBN : 9781107072022
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Summary : A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.

Managing Health in the Genomic Era

Managing Health in the Genomic Era
  • Author : Vincent Henrich,Lori A. Orlando,Brian H. Shirts
  • Publisher :Unknown
  • Release Date :2020-06-27
  • Total pages :238
  • ISBN : 9780128160169
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Summary : In Managing Health in the Genomic Era: A Guide to Family Health History and Disease Risk, Drs. Vincent C. Henrich, Lori A. Orlando, and Brian H. Shirts discuss the practical considerations surrounding the use of genomic and genetic tests to manage patient health, to provide adult disease risk assessment, to improve diagnosis, and to support effective interventions and treatment. In 10 chapters, evidence-based information and case studies are described and examine the central place of family health history (FHH) in genomic medicine, tools and strategies for compiling and analyzing family health history, how to identify existing and novel genetic markers, how to identify lineage specific (or rare) variants within families, and how to find effective interventions based on genetic testing results and FHH. Factors that influence clinical practice, including gene-environment interactions, FHH social networking, direct to consumer (DTC) genetic testing and data sharing, algorithms for analyzing genetic data, and patient counseling are discussed from the standpoint of clinical practice. Here, frontline healthcare providers will discover succinct commentary and key examples to assist with their local needs. Relevant principles of genetic biology and inheritance are explored and guidance on available support networks and online resources is also provided Presents a practical, accessible resource for primary care providers, allied health professionals, pharmacologists, public health professionals, students and clinical researchers Addresses genetic and genomic approaches in managing patient health, conducting and analyzing family health histories, and assessing adult disease risk Features an expert author team with direct experience integrating genetics and genomics in primary care and family medicine settings Examines the attributes and limitations of family health history, genetic testing, and genomic testing in clinical practice Includes detailed explanations following practice-based examples

Precision Public Health

Precision Public Health
  • Author : Tarun Weeramanthri,Hugh Dawkins,Gareth Baynam,Matthew Bellgard,Ori Gudes,James Semmens
  • Publisher :Unknown
  • Release Date :2018-06-25
  • Total pages :229
  • ISBN : 9782889455010
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Summary : Precision Public Health is a new and rapidly evolving field, that examines the application of new technologies to public health policy and practice. It draws on a broad range of disciplines including genomics, spatial data, data linkage, epidemiology, health informatics, big data, predictive analytics and communications. The hope is that these new technologies will strengthen preventive health, improve access to health care, and reach disadvantaged populations in all areas of the world. But what are the downsides and what are the risks, and how can we ensure the benefits flow to those population groups most in need, rather than simply to those individuals who can afford to pay? This is the first collection of theoretical frameworks, analyses of empirical data, and case studies to be assembled on this topic, published to stimulate debate and promote collaborative work.

Genomics, Circuits, and Pathways in Clinical Neuropsychiatry

Genomics, Circuits, and Pathways in Clinical Neuropsychiatry
  • Author : Thomas Lehner,Bruce L. Miller,Matthew W. State
  • Publisher :Unknown
  • Release Date :2016-06-07
  • Total pages :796
  • ISBN : 9780128005309
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Summary : This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics Identifies key concepts, methods, and findings Includes coverage of multiple disorders from autism to schizophrenia Reviews specific genes associated with disorders Discusses the genetic architecture of these syndromes Explains how recent findings are influencing the understanding of biology Clarifies the promise of these findings for future treatment

Human Genome Informatics

Human Genome Informatics
  • Author : Christophe Lambert,Darrol Baker,George P. Patrinos
  • Publisher :Unknown
  • Release Date :2018-08-02
  • Total pages :314
  • ISBN : 9780128134313
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Summary : Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field. Provides an overview of the most commonly used electronic tools to translate genomic information Brings an update on the existing human genomic databases that directly impact genome interpretation Summarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine

Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease
  • Author : Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi
  • Publisher :Unknown
  • Release Date :2012-12-31
  • Total pages :634
  • ISBN : 9780123878304
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Summary : This book identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluations of treatments. The book is aimed at all students of bone biology and genetics, and with this in mind, it includes general introductory chapters on genetics and bone biology and more specific disease-orientated chapters, which comprehensively summarize the clinical, genetic, molecular genetic, animal model, functional and molecular pathology, diagnostic, counselling and treatment aspects of each disorder. Saves academic, medical, and pharma researchers time in quickly accessing the very latest details on a broad range of genetic bone issues, as opposed to searching through thousands of journal articles. Provides a common language for bone biologists and geneticists to discuss the development of bone cells and genetics and their interactions in the development of disease Researchers in all areas bone biology and genetics will gain insight into how clinical observations and practices can feed back into the research cycle and will, therefore, be able to develop more targeted genomic and proteomic assays For those clinical researchers who are also MDs, correct diagnosis (and therefore correct treatment) of bone diseases depends on a strong understanding of the molecular basis for the disease.

Genomic and Precision Medicine

Genomic and Precision Medicine
  • Author : Geoffrey S. Ginsburg,Huntington F Willard,Sean P. David
  • Publisher :Unknown
  • Release Date :2017-03-30
  • Total pages :370
  • ISBN : 9780128006542
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Summary : Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners. Presents a comprehensive volume for primary care providers Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine Includes a current overview on major opportunities for genomic and personalized medicine in practice Highlights case studies that illustrate the practical use of genomics in the management in patients

Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics
  • Author : Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
  • Publisher :Unknown
  • Release Date :2020-04-10
  • Total pages :534
  • ISBN : 9780128173459
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Summary : Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

Clinical Genome Sequencing

Clinical Genome Sequencing
  • Author : Aad Tibben,Barbara B. Biesecker
  • Publisher :Unknown
  • Release Date :2019-03-30
  • Total pages :258
  • ISBN : 9780128133361
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Summary : Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine. Features contributions from leading international researchers and practitioners versed in the psychosocial dimensions of genomic medicine implementation Presents clinical case studies that support concept illustration, making this an invaluable reference for students, researchers, and clinicians looking for practical guidance in this important and multifaceted topic area Details the current state of genomic testing, expectations of genome sequencing, patient consent, patient responses to sequencing data, uncertainties in genome sequencing, direct-to-consumer genome sequencing, and more

Applied Genomics and Public Health

Applied Genomics and Public Health
  • Author : George P. Patrinos
  • Publisher :Unknown
  • Release Date :2019-11-13
  • Total pages :404
  • ISBN : 9780128136966
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Summary : Applied Genomics and Public Health examines the interdisciplinary and growing area of how evidence-based genomic knowledge can be applied to public health, population health, healthcare and health policies. The book gathers experts from a variety of disciplines, including life sciences, social sciences, and health care to develop a comprehensive overview of the field. In addition, the book delves into subjects such as pharmacogenomics, genethics, big data, data translation and analysis, economic evaluation, genomic awareness and education, sociology, pricing and reimbursement, policy measures and economic evaluation in genomic medicine. This book is essential reading for researchers and students exploring applications of genomics to population and public health. In addition, it is ideal for those in the biomedical sciences, medical sociologists, healthcare professionals, nurses, regulatory bodies and health economists interested in learning more about this growing field. Explores the growing application of genomics to population and public health Features internationally renowned contributors from a variety of related fields Contains chapters on important topics such as genomic data sharing, genethics and public health genomics, genomics and sociology, and regulatory aspects of genomic medicine and pharmacogenomics

Medical and Health Genomics

Medical and Health Genomics
  • Author : Dhavendra Kumar,Stylianos Antonarakis
  • Publisher :Unknown
  • Release Date :2016-06-04
  • Total pages :358
  • ISBN : 9780127999227
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Summary : Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Assessing Genetic Risks

Assessing Genetic Risks
  • Author : Institute of Medicine,Committee on Assessing Genetic Risks
  • Publisher :Unknown
  • Release Date :1994-01-01
  • Total pages :352
  • ISBN : 9780309047982
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Summary : Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decisionmaking, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.