There is wide consensus on the importance of knowledge for economic growth and local development patterns. This book proposes a view of knowledge as a collective, systemic and evolutionary process that enables agents and social systems to overcome the challenges of the limits to growth. It brings together new conceptual and empirical contributions, analysing the relationship between demand and supply factors and the rate and direction of technological change. It also examines the different elements that compose innovation systems. The Economics of Knowledge, Innovation and Systemic Technology Policy provides the background for the development of an integrated framework for the analysis of systemic policy instruments and their mutual interaction the socio-political and economic conditions of the surrounding environment. These aspects have long been neglected in innovation policy, as policymakers, academics and the business community, have mostly emphasized the benefits of supply side strategies. However, a better understanding of innovation policies grafted on a complexity-based approach calls for the appreciation of the mutual interactions between both supply and demand aspects, and it is likely to improve the actual design of policy measures. This book will help readers to understand the foundations and working of demand-driven innovation policies by stressing the importance of compent and smart demand.

Prenatal screening for genetic disorders is becoming an increasingly widespread phenomenon across the globe. While studies have highlighted the importance of women s experiences of such screening, little is known about men s roles and direct involvement in this process. With a focus on the experiences of both women and men, this text offers an innovative and passionate account of the gendered nature of prenatal screening.

Drawing on interview data with pregnant women and their male partners in a UK city, Reed provides a compelling analysis of maternal and paternal roles in prenatal screening. Through this analysis, the book raises important issues around genetics, gender and screening practice. With a focus on the gendered production of good and bad genes, the book explores differences between visual technologies and blood screening. It also explores the gendered nature of genetic responsibility and the impact this has on parenting roles.

Extending its arguments into other key debates in prenatal genetics including a focus on the impact of screening on other types of stratification, including ethnicity and class Reed provides an original and comprehensive analysis of some of the most pressing concerns in the field to date. This book will be of interest to students and scholars of the sociology of health and illness, science and technology studies, gender studies, feminist bioethics and medical anthropology, as well as professionals in the fields of midwifery and genetic counselling."

Ashkenazi Jews have the highest known population risk of carrying specific mutations in the high-risk breast cancer genes, BRCA1 and BRCA2. So what does it mean to be told you have an increased risk of genetic breast cancer because you are of Ashkenazi Jewish origin? In a time of ever-increasing knowledge about variations in genetic disease risk among different populations, there is a pressing need for research regarding the implications of such information for members of high-risk populations.

Risky Genes provides first-hand intimate descriptions of women s experiences of being Jewish and of being at increased risk of genetic breast cancer. It explores the impact this knowledge has on their identity and understanding of belonging to a collective. Using qualitative data from high-risk Ashkenazi women in the UK, this book elucidates the importance of biological discourses in forging Jewish self-identity and reveals the complex ways in which biological and social understandings of Jewish belonging intersect.

In Risky Genes, Jessica Mozersky reflects upon and offers new insight into the ongoing debates regarding the implications of genetic research for populations, and of new genetic knowledge for individual and collective identity. The book will be of interest to students and scholars of sociology, anthropology, Jewish studies, medical genetics, medical ethics, religious studies, and race and ethnic studies."

The Trouble with Twin Studies questions popular genetic explanations of human behavioral differences based upon the existing body of twin research. Psychologist Jay Joseph outlines the fallacies of twin studies in the context of the ongoing decades-long failure to discover genes for human behavioral differences, including IQ, personality, and the major psychiatric disorders. This volume critically examines twin research, with a special emphasis on reared-apart twin studies, and incorporates new and updated perspectives, analyses, arguments, and evidence.

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 nearly 5,000 pages of detailed coverage, 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. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.

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.

Most of us want and expect medicine's miracles to extend our lives. In today's aging society, however, the line between life-giving therapies and too much treatment is hard to see-it's being obscured by a perfect storm created by the pharmaceutical and biomedical industries, along with insurance companies. In Ordinary Medicine Sharon R. Kaufman investigates what drives that storm's "more is better" approach to medicine: a nearly invisible chain of social, economic, and bureaucratic forces that has made once-extraordinary treatments seem ordinary, necessary, and desirable. Since 2002 Kaufman has listened to hundreds of older patients, their physicians and family members express their hopes, fears, and reasoning as they faced the line between enough and too much intervention. Their stories anchor Ordinary Medicine. Today's medicine, Kaufman contends, shapes nearly every American's experience of growing older, and ultimately medicine is undermining its own ability to function as a social good. Kaufman's careful mapping of the sources of our health care dilemmas should make it far easier to rethink and renew medicine's goals.

* Six new chapters on vital topics of interest such as multilocus SNP genotyping (SNP chips), RNAi, ChIP-chip, and genomic tiling arrays* New edition responds to reviewers' and users' desire for greater coverage-now the most useful handbook on the market!* Practical, concise summary of everything about genomics and emerging technologies a busy physician or medical student should know* Covers concepts and techniques that are in use in medicine now, as well as those on the cutting-edge of science relevant to medicine, from bioinformatics to DNA diagnostics and proteomics*NEW: Includes chapter-end exercises, enhancing the utility of the new edition as a textbook*NEW: PowerPoint slides of images available at instructor website

DNA testing and its forensic analysis are recognized as the "gold standard" in forensic identification science methods. However, there is a great need for a hands-on step-by-step guide to teach the forensic DNA community how to interpret DNA mixtures, how to assign a likelihood ratio, and how to use the subsequent likelihood ratio when reporting interpretation conclusions. Forensic DNA Profiling: A Practical Guide to Assigning Likelihood Ratios will provide a roadmap for labs all over the world and the next generation of analysts who need this foundational understanding. The techniques used in forensic DNA analysis are based upon the accepted principles of molecular biology. The interpretation of a good-quality DNA profile generated from a crime scene stain from a single-source donor provides an unambiguous result when using the most modern forensic DNA methods. Unfortunately, many crime scene profiles are not single source. They are described as mixed since they contain DNA from two or more individuals. Interpretation of DNA mixtures represents one of the greatest challenges to the forensic DNA analyst. As such, the book introduces terms used to describe DNA profiles and profile interpretation. Chapters explain DNA extraction methods, the polymerase chain reaction (PCR), capillary electrophoresis (CE), likelihood ratios (LRs) and their interpretation, and population genetic models-including Mendelian inheritance and Hardy-Weinberg equilibrium. It is important that analysts understand how LRs are generated in a probabilistic framework, ideally with an appreciation of both semicontinuous and fully continuous probabilistic approaches. KEY FEATURES: * The first book to focus entirely on DNA mixtures and the complexities involved with interpreting the results * Takes a hands-on approach offering theory with worked examples and exercises to be easily understood and implementable by laboratory personnel * New methods, heretofore unpublished previously, provide a means to innovate deconvoluting a mixed DNA profile, assign an LR, and appropriately report the weight of evidence * Includes a chapter on assigning LRs for close relatives (i.e., "It's not me, it was my brother"), and discusses strategies for the validation of probabilistic genotyping software Forensic DNA Profiling fills the void for labs unfamiliar with LRs, and moving to probabilistic solutions, and for labs already familiar with LRs, but wishing to understand how they are calculated in more detail. The book will be a welcome read for lab professionals and technicians, students, and legal professionals seeking to understand and apply the techniques covered.

Genomic Data Sharing: Case Studies, Challenges, and Opportunities for Precision Medicine provides a comprehensive overview of current and emerging issues in genomic data sharing. In this book, international leaders in genomic data examine these issues in-depth, offering practical case studies that highlight key successes, challenges and opportunities. Sections discuss the eMERGE Network, Undiagnosed Disease Network, Vanderbilt Biobank, Marshfield Clinic Biobank, Minnesota Authorization, Rochester Epidemiology Project, NIH sponsored biobanks, GINA, and Global Alliance for Genomics and Health (GA4GH). In addition to these perspectives from the frontlines, the book also provides succinct overviews of ethical, legal, social and IT challenges. Clinician investigators, clinicians affiliated with academic medical centers, policymakers and regulators will also gain insights that will allow them to navigate the increasingly complex ethical, social and clinical landscape of genomic data sharing.

Translational Systems Medicine and Oral Disease bridges the gap between discovery science and clinical oral medicine, providing opportunities for both the scientific and clinical communities to understand how to apply recent findings in cell biology, genomic profiling, and systems medicine to favorably impact the diagnosis, treatment and management of oral diseases. Fully illustrated chapters from leading international contributors explore clinical applications of genomics, proteomics, metabolomics, microbiomics and epigenetics, as well as analytic methods and functional omics in oral medicine. Disease specific chapters detail systems approaches to periodontal disease, salivary gland diseases, oral cancer, bone disease, and autoimmune disease, among others. In addition, the book emphasizes biological synergisms across disciplines and their translational impact for clinicians, researchers and students in the fields of dentistry, dermatology, gastroenterology, otolaryngology, oncology and primary care.

Understanding phytochemical-gene interactions provides the basis for individualized therapies to promote health as well as prevent and treat disease. The authors of Phytochemicals: Nutrient-Gene Interactions examine the interactions between phytochemicals and the human genome and discuss the impact these interactions have on health, aging, and chronic conditions such as inflammation, heart disease, obesity, type II diabetes mellitus, and cancer. Keeping pace with the most important trends in phytochemical research, the authors accentuate the latest understanding on the use of controlled clinical trials, new screening technologies, and the completed human genome project for researching the pharmacokinetics, safety, and efficacy of phytochemicals. The book covers a balanced range of topics beginning with experimental strategies and methodologies for identifying significant interactions between diet, genetic variants, and different markers of cardiovascular disease, inflammation, and obesity. Different authors explain the mechanisms of protective action that link diets rich in omega-3 fatty acids, unsaturated fats, fruits, vegetables, and whole grains with a decreased risk of chronic and degenerative diseases. They also review and summarize epidemiological research on plant-based foods and dietary patterns supporting the beneficial role of phytochemicals in health promotion and disease prevention. Phytochemicals: Nutrient-Gene Interactions illustrates the growing role of nutrigenomics and nutrigenetics in disease prevention and in the responsible development of safe and effective phytochemical products within the food, pharmaceutical, and supplement industries.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition 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. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions.

The untold story of how hereditary data in mental hospitals gave rise to the science of human heredity In the early 1800s, a century before there was any concept of the gene, physicians in insane asylums began to record causes of madness in their admission books. Almost from the beginning, they pointed to heredity as the most important of these causes. Genetics in the Madhouse is the untold story of how the collection of hereditary data in asylums and prisons gave rise to a new science of human heredity. Theodore Porter looks at the institutional use of innovative quantitative practices-such as pedigree charts and censuses of mental illness-that were worked out in the madhouse long before the manipulation of DNA became possible in the lab. Genetics in the Madhouse brings to light the hidden history behind modern genetics and deepens our appreciation of the moral issues at stake in data work conducted at the border of subjectivity and science.

Transgenerational Epigenetics, Second Edition, offers the only up-to-date, comprehensive analysis of the inheritance of epigenetic phenomena between generations with an emphasis on human disease relevance, drug discovery, and next steps in clinical translation. International experts discuss mechanisms of epigenetic inheritance, its expression in animal and plant models, and how human ailments, such as metabolic disorders and cardiovascular disease are influenced by transgenerational epigenetic inheritance. Where evidence is sufficient, epigenetic clinical interventions are proposed that may help prevent or reduce the severity of disease before offspring are born. This edition has been thoroughly revised in each disease area, featuring newly researched actors in epigenetic regulation, including long noncoding RNA in addition to histone modifications and DNA methylation. Therapeutic pathways in treating cancer and extending human longevity are also considered, as are current debates and future directions for research.

? Kate Fagan and her father forged their relationship on the basketball court, bonded by sweaty high fives and a dedication to the New York Knicks. But as Kate got older, her love of the sport and her closeness with her father grew complicated. The formerly inseparable pair drifted apart. The lessons that her father instilled in her about the game, and all her memories of sharing the court with him over the years, were a distant memory. When Chris Fagan was diagnosed with ALS, Kate decided that something had to change. Leaving a high-profile job at ESPN to be closer to her mother and father and take part in his care, Kate Fagan spent the last year of her father's life determined to return to him the kind of joy they once shared on the court. All the Colors Came Out is Kate Fagan's completely original reflection on the very specific bond that one father and daughter shared, forged in the love of a sport which over time came to mean so much more. Studded with unforgettable scenes of humor, pain and hope, Kate Fagan has written a book that plumbs the mysteries of the unique gifts fathers gives daughters, ones that resonate across time and circumstance.

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.

The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders. The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome. Key selling features: Molecular sequence perspective, explaining the relationship between DNA sequence motifs and biological function Aids in understanding the functional impact of mutations and genetic variants Material presented at basic level, making it accessible to students without previous studies of genetics and molecular biology Richly illustrated with questions provided to each chapter

Human Reproductive and Prenatal Genetics presents the latest material from a detailed molecular, cellular and translational perspective. Considering its timeliness and potential international impact, this all-inclusive and authoritative work is ideal for researchers, students, and clinicians worldwide. Currently, there are no comprehensive books covering the field of human reproductive and prenatal genetics. As such, this book aims to be among the largest and most useful references available. Named a Highly Commended book in the Basic and Clinical Sciences by the British Medical Association.

Genetics, like all scientific disciplines, is a human endeavor. Thus, the lives of geneticists - their friendships, colleagues and associations - play an important role in the historical development of the science. This book summarizes the history of genetics by reviewing the lives of the prominent and influential researchers beginning with the earliest and simplest branches of genetics (studies of inheritance and mutation) and ending with the human genome project - the pinnacle of genetics research of the 20th century. Key selling features: Summarizes the lives of important genetics researchers Reviews the development of important foundational concepts Highlights the way new technologies and methods have advanced the study of genetics Explores the influence of genetics in other biomedical fields Avoids simplistic chronological summary of genetics

Originally thought to be available only to the world's wealthiest nations, genomic medicine has developed into a broad range of clinical methods and technologies whose concrete applications are also revolutionizing health systems in many of the world's resource-limited nations. Genomic Medicine in Emerging Economies: 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 already transformed health systems and led to improved patient care in Indonesian, Chilean, Malaysian, Argentinian, Chinese, Sri Lankan, and Colombian 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 to apply in their own work, this book offers an essential, case-study based approach needed to understand how genomic medicine can be used to improve disease-management in a diverse range of economic and social contexts.

"In this rigorous and beautifully researched volume, Milanich considers the tension between social and biological definitions of fatherhood, and shows how much we still have to learn about what constitutes a father." -Andrew Solomon, author of Far from the Tree: Parents, Children, and the Search for Identity For most of human history, the notion that paternity was uncertain appeared to be an immutable law of nature. The unknown father provided entertaining plotlines from Shakespeare to the Victorian novelists and lay at the heart of inheritance and child support disputes. But in the 1920s new scientific advances promised to solve the mystery of paternity once and for all. The stakes were high: fatherhood has always been a public relationship as well as a private one. It confers not only patrimony and legitimacy but also a name, nationality, and identity. The new science of paternity, with methods such as blood typing, fingerprinting, and facial analysis, would bring clarity to the conundrum of fatherhood-or so it appeared. Suddenly, it would be possible to establish family relationships, expose adulterous affairs, locate errant fathers, unravel baby mix-ups, and discover one's true race and ethnicity. Tracing the scientific quest for the father up to the present, with the advent of seemingly foolproof DNA analysis, Nara Milanich shows that the effort to establish biological truth has not ended the quest for the father. Rather, scientific certainty has revealed the fundamentally social, cultural, and political nature of paternity. As Paternity shows, in the age of modern genetics the answer to the question "Who's your father?" remains as complicated as ever.

The Epigenetics of Autoimmunity covers a topic directly related to translational epigenetics. Via epigenetic mechanisms, a number of internal and external environmental risk factors, including smoking, nutrition, viral infection and the exposure to chemicals, could exert their influence on the pathogenesis of autoimmune diseases. Such factors could impact the epigenetic mechanisms, which, in turn, build relationship with the regulation of gene expression, and eventually triggering immunologic events that result in instability of immune system. Since epigenetic aberrations are known to play a key role in a long list of human diseases, the translational significance of autoimmunity epigenetics is very high. To bridge the gap between environmental and genetic factors, over the past few years, great progress has been made in identifying detailed epigenetic mechanisms for autoimmune diseases. Furthermore, with rapid advances in technological development, high-throughput screening approaches and other novel technologies support the systematic investigations and facilitate the epigenetic identification. This book covers autoimmunity epigenetics from a disease-oriented perspective and several chapters are presented that provide advances in wide-spread disorders or diseases such as systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), multiple sclerosis (MS), type 1 diabetes (T1DM), systemic sclerosis (SSc), primary Sjoegren's syndrome (pSS) and autoimmune thyroid diseases (AITDs). These emerging epigenetic studies provide new insights into autoimmune diseases, raising great expectations among researchers and clinicians. This seminal book on this topic comprehensively covers the most recent advances in this exciting and rapidly developing new science. They might reveal not only new clinical biomarkers for diagnosis and disease progression, but also novel targets for potential epigenetic therapeutic treatment.

This book provides the latest information on the significance of zebrafish as an ideal model for researching the biomedical field, with references. This book also focused on the evidence of zebrafish as a model in cardiovascular, neurologic, psychiatric and metabolic research. In addition, the book also includes the research carried out on zebrafish in hepatic, renal, ophthalmic, and ENT related areas. Contributed chapters come from the most prominent laboratories working in this field, which provides a unique perspective on zebrafish models from a wide spectrum of the research community. In addition, the book offers a detailed analysis of the most current research in the area for specific zebrafish models including specific research in the area of skin disorders, endocrine diseases, nutritional disorders, gastrointestinal, hematological disorders and cancer. The compilation of chapters in the volume culminates into a comprehensive and definitive text on zebrafish and its suitability for modeling various diseases, providing a critical resource on the potential attributes of the zebrafish as a pharmacological model. In terms of scope, this book is a useful tool for young researchers, professors and pharmaceutical scientists for understanding the significance of zebrafish as an emerging pharmacological model that can significantly aid in the process of drug discovery and development.

This highly informative and clearly written book presents the basic science and the latest data on hereditary breast and ovarian cancer (HBOC) to provide an up-to-date and holistic overview of the disease. It starts off by presenting the molecular mechanisms, genetic testing and counseling, and variants of unknown significance (VUS) to help readers understand the contemporary interpretation of the disease. Further chapters focus on the surveillance, diagnosis and treatment, including chemoprevention, risk reduction and drug development based on molecular mechanisms. It also includes a chapter on the latest findings from the HBOC database, ethical issues and the parp inhibitors, and discusses innovative thinking to manage and understand the disease. Hereditary Breast and Ovarian Cancer - Molecular Mechanism and Clinical Practice offers breast surgeons, medical oncologists, gynecological oncologists and genetic counselors a comprehensive overview of the disease. Providing insights into recent scientific findings and further avenues for investigation, it is also a thought-provoking and informative read for researchers and scholars.