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Clinical Genomics

Clinical Genomics
  • Author : Shashikant Kulkarni,John Pfeifer
  • Publisher :Unknown
  • Release Date :2014-11-10
  • Total pages :488
  • ISBN : 9780124051737
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Summary : Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

Genomics in the Clinic

Genomics in the Clinic
  • Author : Ethylin Wang Jabs,Antonie D. Kline
  • Publisher :Unknown
  • Release Date :2020-06
  • Total pages :200
  • ISBN : 0128164786
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Summary : Genomics to the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling clearly explains central concepts of clinical genomic medicine and testing for non-geneticist clinicians and healthcare affiliates of various types, including pediatricians, internists, general practitioners, family medicine doctors, obstetricians and gynecologists, oncologists and pharmacists. Readers will learn to make appropriate genetic referrals, prepare patients for genetic consultation and testing results, understand basic genetic testing methods and nomenclature, and become versed in the ethical, legal and psychosocial aspects of genomic medicine. Essential topics include clinical genetic testing, genetic consultation and referrals, ELSI in genomic medicine, genetic diagnosis, and prenatal testing. Descriptive, applied case studies also examine a range of genetic conditions and testing methods, putting these concepts and approaches into practice. With its focus on accessible instruction, full-color imagery, and real-world application, this book prepares clinicians and healthcare providers of all types for a new age of genomic and precision-based medicine. Provides a well-balanced author team, including an experienced clinical geneticist and genetic counselor who cover essential topics in an accessible, easy-to-follow format Includes applied case studies that examine recommended protocols for a range of genetic conditions Makes genetic and genomic concepts, technology, and interpretation of genetic test results approachable and relevant to clinical practice, with clear steps for clinical integration

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

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

Genomic Medicine

Genomic Medicine
  • Author : Dhavendra Kumar,Charis Eng
  • Publisher :Unknown
  • Release Date :2014
  • Total pages :814
  • ISBN : 9780199896028
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Summary : Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
  • Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
  • Publisher :Unknown
  • Release Date :2018-11-20
  • Total pages :412
  • ISBN : 9780128126844
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Summary : For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics

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

Precision Medicine: A Guide to Genomics in Clinical Practice

Precision Medicine: A Guide to Genomics in Clinical Practice
  • Author : Jeanette J. McCarthy,Bryce A. Mendelsohn
  • Publisher :Unknown
  • Release Date :2017-01-05
  • Total pages :304
  • ISBN : 9781259644146
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Summary : Incorporate genomics into every applicable area of your clinical practice with this complete how-to guide Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice. Features that make this book valuable to every practice: •Intentionally avoids excessive technical content and consistently emphasizes real-life patient care and decision support •Follows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stage •Organization allows healthcare providers to quickly and easily find the information relevant to their practice. •The authors highlight common pitfalls – technical and ethical – that might complicate the delivery of quality genomic healthcare •Enhanced by eleven valuable appendices that cover important topics ranging from the basics of genetics to ethical issues to regulation and reimbursement If you are searching for a clinically relevant, non-technical resource that will teach you how genomic medicine can and should be practiced in your specific field of interest, Precision Medicine: A Guide to Genomics in Clinical Practicebelongs on your desk.

Translating Gene Therapy to the Clinic

Translating Gene Therapy to the Clinic
  • Author : Jeffrey Laurence,Michael Franklin
  • Publisher :Unknown
  • Release Date :2014-11-14
  • Total pages :346
  • ISBN : 9780128005644
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Summary : Translating Gene Therapy to the Clinic, edited by Dr. Jeffrey Laurence and Michael Franklin, follows the recent, much-lauded special issue of Translational Research in emphasizing clinical milestones and critical barriers to further progress in the clinic. This comprehensive text provides a background for understanding the techniques involved in human gene therapy trials, and expands upon the disease-specific situations in which these new approaches currently have the greatest therapeutic application or potential, and those areas most in need of future research. It emphasizes methods, tools, and experimental approaches used by leaders in the field of translational gene therapy. The book promotes cross-disciplinary communication between the sub-specialties of medicine, and remains unified in theme. Presents impactful and widely supported research across the spectrum of science, method, implementation and clinical application Offers disease-based coverage from expert clinician-scientists, covering everything from arthritis to congestive heart failure, as it details specific progress and barriers for current translational use Provides key background information from immune response through genome engineering and gene transfer, relevant information for practicing clinicians contemplating enrolling patients in gene therapy trials

Genomic Medicine in Emerging Economies

Genomic Medicine in Emerging Economies
  • Author : George Patrinos,Catalina Lopez-Correa
  • Publisher :Unknown
  • Release Date :2018-06-29
  • Total pages :204
  • ISBN : 9780128115510
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Summary : Genomic Medicine in Resource-limited Countries: Genomics for Every Nation provides in-depth analysis and key examples of the implementation of medical genomics in low-income nations across the globe, demonstrating how this advancing medical science has not only transformed health systems, but also led to improved patient care in Indonesian, Nepalese, Chilean, Malaysian, Tanzanian, Argentinian, Chinese, Sri Lankan and Columbian populations, among others. In addition to defining tools, diagnostics and treatment pathways at the population-wide level for medical geneticists, genomic researchers and public health workers, this book offers a case-study based approach that helps users understand how genomic medicine is used in disease-management. Examines essential concepts and protocols, and economic, social and legal considerations related to the implementation of genomic medicine in resource-limited nations Features concrete success stories of the implementation of medical genomics in Indonesian, Nepalese, Chilean, Malaysian, Tanzanian, Argentinian, Chinese, Sri Lankan and Columbian populations, amongst others Provides tools, diagnostics and treatment pathways for medical geneticists, genomic researchers and public health workers to apply in their own work Establishes clear precedents on how genomic technologies can be accessed by nations with limited means and financial support for healthcare

Clinical Precision Medicine

Clinical Precision Medicine
  • Author : Judy S. Crabtree
  • Publisher :Unknown
  • Release Date :2019-11-15
  • Total pages :112
  • ISBN : 9780128204023
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Summary : Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics Features chapter contributions from leaders in the field Consolidates fundamental concepts and current practices of precision medicine in one convenient resource

Genomic and Personalized Medicine

Genomic and Personalized Medicine
  • Author : Anonim
  • Publisher :Unknown
  • Release Date :2012-10-30
  • Total pages :1350
  • ISBN : 9780123822284
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Summary : Genomic and Personalized Medicine, Second Edition — winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003. Highly Commended 2013 BMA Medical Book Award for Medicine More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis

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.

Progress and Challenges in Precision Medicine

Progress and Challenges in Precision Medicine
  • Author : Mukesh Verma,Debmalya Barh
  • Publisher :Unknown
  • Release Date :2016-12-22
  • Total pages :344
  • ISBN : 9780128095027
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Summary : Progress and Challenges in Precision Medicine presents an insightful overview to the myriad factors of personalized and precision medicine. The availability of the human genome, large amounts of data on individual genetic variations, environmental interactions, influence of lifestyle, and cutting-edge tools and technologies for big-data analysis have led to the age of personalized and precision medicine. Bringing together a global range of experts on precision medicine, this book collects previously scattered information into one concise volume which covers the most important developments so far in precision medicine and also suggests the most likely avenues for future development. The book includes clinical information, informatics, public policy implications, and information on case studies. It is a useful reference and background work for students, researchers, and clinicians working in the biomedical and medical fields, as well as policymakers in the health sciences. Provides an overview of the growing field of precision medicine Contains chapters from geographically diverse experts in their field Explores important aspects of precision medicine, including applications, ethics, and development

The Gene, the Clinic, and the Family

The Gene, the Clinic, and the Family
  • Author : Joanna Latimer
  • Publisher :Unknown
  • Release Date :2013-07-04
  • Total pages :238
  • ISBN : 9781135070137
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Summary : While some theorists argue that medicine is caught in a relentless process of ‘geneticization’ and others offer a thesis of biomedicalization, there is still little research that explores how these effects are accomplished in practice. Joanna Latimer, whose groundbreaking ethnography on acute medicine gave us the social science classic The Conduct of Care, moves her focus from the bedside to the clinic in this in-depth study of genetic medicine. Against current thinking that proselytises the rise of laboratory science, Professor Latimer shows how the genetic clinic is at the heart of the revolution in the new genetics. Tracing how work on the abnormal in an embryonic genetic science, dysmorphology, is changing our thinking about the normal, The Gene, the Clinic, and the Family charts new understandings about family, procreation and choice. Far from medicine experiencing the much-proclaimed ‘death of the clinic’, this book shows how medicine is both reasserting its status as a science and revitalising its dominance over society, not only for now but for societies in the future. This book will appeal to students, scholars and professionals interested in medical sociology, science and technology studies, the anthropology of science, medical science and genetics, as well as genetic counselling.

Oxford Desk Reference

Oxford Desk Reference
  • Author : Helen V. Firth,Jane A. Hurst,Judith G. Hall
  • Publisher :Unknown
  • Release Date :2005
  • Total pages :708
  • ISBN : 0192628968
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Summary : Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

Precision Medicine for Investigators, Practitioners and Providers

Precision Medicine for Investigators, Practitioners and Providers
  • Author : Joel Faintuch,Salomao Faintuch
  • Publisher :Unknown
  • Release Date :2019-11-16
  • Total pages :640
  • ISBN : 9780128191798
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Summary : Precision Medicine for Investigators, Practitioners and Providers addresses the needs of investigators by covering the topic as an umbrella concept, from new drug trials to wearable diagnostic devices, and from pediatrics to psychiatry in a manner that is up-to-date and authoritative. Sections include broad coverage of concerning disease groups and ancillary information about techniques, resources and consequences. Moreover, each chapter follows a structured blueprint, so that multiple, essential items are not overlooked. Instead of simply concentrating on a limited number of extensive and pedantic coverages, scholarly diagrams are also included. Provides a three-pronged approach to precision medicine that is focused on investigators, practitioners and healthcare providers Covers disease groups and ancillary information about techniques, resources and consequences Follows a structured blueprint, ensuring essential chapters items are not overlooked

Routledge Handbook of Genomics, Health and Society

Routledge Handbook of Genomics, Health and Society
  • Author : Sahra Gibbon,Barbara Prainsack,Stephen Hilgartner,Janelle Lamoreaux
  • Publisher :Unknown
  • Release Date :2018-04-17
  • Total pages :316
  • ISBN : 9781315451671
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Summary : The Handbook provides an essential resource at the interface of Genomics, Health and Society, and forms a crucial research tool for both new students and established scholars across biomedicine and social sciences. Building from and extending the first Routledge Handbook of Genetics and Society, the book offers a comprehensive introduction to pivotal themes within the field, an overview of the current state of the art knowledge on genomics, science and society, and an outline of emerging areas of research. Key themes addressed include the way genomic based DNA technologies have become incorporated into diverse arenas of clinical practice and research whilst also extending beyond the clinic; the role of genomics in contemporary ‘bioeconomies’; how challenges in the governance of medical genomics can both reconfigure and stabilise regulatory processes and jurisdictional boundaries; how questions of diversity and justice are situated across different national and transnational terrains of genomic research; and how genomics informs – and is shaped by – developments in fields such as epigenetics, synthetic biology, stem cell, microbial and animal model research. Presenting cutting edge research from leading social science scholars, the Handbook provides a unique and important contribution to the field. It brings a rich and varied cross disciplinary social science perspective that engages with both the history and contemporary context of genomics and ‘post-genomics’, and considers the now global and transnational terrain in which these developments are unfolding.

Genomics and Health in the Developing World

Genomics and Health in the Developing World
  • Author : Dhavendra Kumar
  • Publisher :Unknown
  • Release Date :2012-06-14
  • Total pages :1501
  • ISBN : 9780195374759
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Summary : This book is designed to be the first major text to discuss advances in medical genetics in the developing world.

Genomics

Genomics
  • Author : Julian Parkhill,Sarah J. Lindsay,Phil Jones,Lia Chappell,Jonathon Roberts,Nancy Holroyd,Michal Spzak,Francesca (Wellcome Sanger Institute) Gale
  • Publisher :Unknown
  • Release Date :2020-04-15
  • Total pages :200
  • ISBN : 9780198848387
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Summary : This Oxford Biology Primer will introduce students to the field of genomics and its applications. From the early days of the Human Genome Project, sequencing technology has rapidly developed and is now cheaper and more accessible than ever before. The resulting pervasive nature of these technologies make them more likely to be experienced by people as patients, consumers and citizens. The primer introduces the basic principles of genomics and then uses these to consider human genetics, through examples of some of the rare diseases linked to single genes. The impact of these rare diseases is far-reaching and the knowledge gained through genome sequencing is proving invaluable in their diagnosis. Genome sequencing is revolutionising the diagnosis and treatment of cancer, and the primer introduces students to some of the key breakthroughs which have taken place in recent years. These include the identification of specific genes indicating cancer risk, and the sequencing of tumours throughout treatment to identify further mutations and modify treatment accordingly. The primer aims to address a number of the ethical issues which are raised by this rapidly-growing area of biology. Students are challenged to consider some of the decisions they may need to make relating to these technologies in their own lives, and are given opportunities to explore different aspects of these issues in a way which allows discussion to be both informed and meaningful. The study of infectious disease is also feeling the impact of genomics: the primer discusses the concept of pathogen genome sequencing, and illustrates the various ways in which this can be used - for example, enabling us to find different solutions to infections, to track outbreaks of disease to their source, and to identify and possibly ultimately combat antibiotic resistance. Many of the major diseases which impact the global population are caused by parasites, which come in a wide variety of shapes and sizes. The primer introduces students to the importance of understanding parasite genomes. Parasite genome sequencing makes it possible to develop both new medicines, and new treatments such as gene drive systems to wipe out disease-causing mosquito populations. For many years, our views of classification and evolution have been based on observational techniques going back to Darwin and Linnaeus. Focusing on human evolution, the primer will open students' eyes to the ways in which genome sequencing is being used to reveal evolutionary links that have never before been recognised, and to elucidate the way humans spread out of Africa across the world. Students are not always aware of the role technological developments play in enabling the progress of science. The final chapter delves into how genome sequencing technologies have developed, considering both the speed of change in the technology, its implications for usefulness, availability and cost, and the growing issue of big data and how it can be manipulated. The different technologies described in this chapter are referenced throughout the book.

Cardiovascular Genetics and Genomics in Clinical Practice

Cardiovascular Genetics and Genomics in Clinical Practice
  • Author : Donna K. Arnett, PhD,Sanjiv J. Shah, MD
  • Publisher :Unknown
  • Release Date :2014-11-10
  • Total pages :246
  • ISBN : 9781617051784
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Summary : Weighted Numerical Score: 100 - 5 Stars! This is a systematic guide to cardiovascular genetics and genomics from basic concepts to clinical application. It organizes a large volume of information from an active area of research, which holds promise for future discovery. --Doody's Reviews Cardiovascular Genetics and Genomics in Clinical Practice presents clinical cases to illuminate basic concepts of cardiovascular genetics and genomics as practitioners encounter them in day-to-day practice. The unique use of real-world case discussions facilitates the memorization and understanding of basic principles, which can be more readily applied to actual cases. Cardiovascular Genetics and Genomics in Clinical Practice features a step-by-step learning process that begins with an easy-to-understand "primer" of basic scientific concepts regarding cardiovascular genetics and genomics followed by state-of-the-art research and applications for treatment of cardiovascular disorders. Expert clinicians and researchers describe illustrative cases for each topic along with detailed discussions of current scientific understanding and its application in current disease management and treatment. Summaries, key teaching points, and illustrations are highlighted to facilitate quick recall and review. The book will be useful for cardiovascular clinicians in training, board preparation, or as a review for those already in clinical practice. Cardiovascular Genetics and Genomics in Clinical Practice features: Clinical case scenarios to illuminate the basic concepts of cardiovascular genetics and genomics as they are used in daily practice Explanation of fundamental concepts as a foundation for more in-depth understanding Detailed discussions of current scientific knowledge and clinical management The expertise of renowned clinician-scientists in the field Real practical insight for practice