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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
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.
Recent advances in high-throughput gene sequencing and other omics biotechnologies have served as a springboard for the field of pharmacogenomics. Pharmacogenomics is now generally accepted as the major determinant of variable drug safety, efficacy, and cost-effectiveness. Therefore, widespread use of pharmacogenomics for patient care has become a critical requirement. There is an unprecedented urgency for aspiring and practicing clinicians to become trained on how to interpret data from pharmacogenomic testing in preparation for the future of healthcare-i.e., personalized medicine. Applying Pharmacogenomics in Therapeutics provides timely coverage of the principles, practice, and potential of pharmacogenomics and personalized medicine. Comprised of chapters contributed by well-established pharmacologists and scientists from US and Chinese academia and industry, this authoritative text: Demonstrates how to apply the principles of pharmacogenomics and its biotechnologies in patient care Depicts the use of genetic biomarkers in drug discovery and development, laboratory medicine, and clinical services Describes the practice of pharmacogenomics in the treatment of cancers, cardiovascular diseases, neurologic and psychiatric disorders, and pulmonary diseases Discusses the merging of pharmacogenomics and alternative medicine, as well as the integration of pharmacogenomics into pharmacoeconomics Each chapter begins with the key concepts, followed by in-depth explorations of case reports or critical evaluations of genetic variants/biomarkers, and concludes with questions for self-examination.
This book presents a systematic treatment of Markov chains, diffusion processes and state space models, as well as alternative approaches to Markov chains through stochastic difference equations and stochastic differential equations. It illustrates how these processes and approaches are applied to many problems in genetics, carcinogenesis, AIDS epidemiology and other biomedical systems.One feature of the book is that it describes the basic MCMC (Markov chain and Monte Carlo) procedures and illustrates how to use the Gibbs sampling method and the multilevel Gibbs sampling method to solve many problems in genetics, carcinogenesis, AIDS and other biomedical systems.As another feature, the book develops many state space models for many genetic problems, carcinogenesis, AIDS epidemiology and HIV pathogenesis. It shows in detail how to use the multilevel Gibbs sampling method to estimate (or predict) simultaneously the state variables and the unknown parameters in cancer chemotherapy, carcinogenesis, AIDS epidemiology and HIV pathogenesis. As a matter of fact, this book is the first to develop several state space models for many genetic problems, carcinogenesis and other biomedical problems.To emphasize special applications to medical problems, in this new edition the book has added a new chapter to illustrate how to develop biologically-supported stochastic models and state space models of carcinogenesis in human beings. Specific examples include hidden Markov models and state space models for human colon cancer, human liver cancer and some human pediatric cancers such as retinoblastoma and hepatoblastoma. The book also gives examples to illustrate how to develop procedures to assess cancer risk of environmental agents through initiation-promotion protocols.
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.
Fundamentals of Genetic Epidemiology meets the need for a sophisticated approach to the investigation of the causes of complex chronic diseases. This integrated text describes the principles, methods, and approaches of epidemiology and genetics in the study of disease etiology. It provides an historical overview of genetics and epidemiology and their gradual rapprochement, describing the fundamental research strategies of genetic epidemiology including population and family studies. The authors also illustrate the increasing importance of genetic epidemiology in its application to preventive medicine, public health surveillance and the emerging ethical issues regarding the use of genetic information in society.
The book provides scope and knowledge on advanced techniques and its applications into the modern fields of biotechnology-genomics and proteomics. In this book, different genomics and proteomics technologies and principles are examined. The fundamental knowledge presented in this book opens up an entirely new way of approaching DNA chip technology, DNA array assembly, gene expression analysis, assessing changes in genomic DNA, structure-based functional genomics, protein networks, and so on. Topics in the book include: * Different gene products with a similar role in neuronal defense against oxidative * Gene-gene and gene-environment interactions in genetic epidemiology * Elucidation of proto-oncogene c-abl function with the use of mouse models and the disease model of chronic myeloid leukemia * Next-generation sequencing, microbiome evaluation, molecular microbiology, and their impact on human health * Proteomics and prostate cancer * RNA interference therapeutics * Molecular mechanisms of hepatitis C virus entry * Molecular phylogenetics for elucidation of evolutionary processes from biological data * The impact of transgenic crops on soil quality, microbial diversity, and plant-associated communities. * Biotechnological and genomic approaches for abiotic stress tolerance in crop plants The book will be valuable for biotechnology researchers and bioinformatics professionals and students in all fields of biotechnology and will serve to broaden their knowledge about these newer tools, techniques, innovations, and applications.
Gene therapy for inflammatory diseases is a new, burgeoning field of medicine. Edited by the undisputed pioneers of this area of research, this volume is the first devoted to its topic. It contains thirteen chapters, each written by leaders in their respective fields, that summarize the state of the art in developing novel, gene based treatments for inflammatory diseases. As well as providing an introduction to the basic concepts of gene therapy and the use of naked DNA approaches, the book describes the advances that have been made in applying them to arthritis, lupus, multiple sclerosis, diabetes, Sjogrens syndrome and transplantation.One chapter is devoted to discussing the first human clinical trials that apply gene therapy to the treatment of an inflammatory disease. As well as providing novel therapeutic approaches, gene therapy facilitates the development of new and improved animal models of disease; a chapter describing these advances is also included. As an up-to-date, timely book written by th
The burgeoning new science of epigenetics offers a cornucopia of insights some comforting, some frightening. For example, the male fetus may be especially vulnerable to certain common chemicals in our environment, in ways that damage not only his own sperm but also the sperm of his sons. And it s epigenetics that causes identical twins to vary widely in their susceptibility to dementia and cancer. But here s the good news: unlike mutations, epigenetic effects are reversible. Indeed, epigenetic engineering is the future of medicine."
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.
This book presents up-to-date information on the origins of the Ashkenazic Jewish people from central and eastern Europe based on genetic research on modern and pre-modern populations. It focuses on the 129 maternal haplogroups that the author confirmed that Ashkenazim have acquired from distinct female ancestors who were indigenous to diverse lands that include Israel, Italy, Poland, Germany, North Africa, and China, revealing both their Israelite inheritance and the lasting legacy of conversions to Judaism. Genetic connections between Ashkenazic Jews and other Jewish populations, including Turkish Jews, Moroccan Jews, Tunisian Jews, Iranian Jews, and Cochin Jews, are indicated wherever they are known.
This book explores the recent advances in the techniques and platforms used in biomarker research that have revolutionized the way we study, diagnose, and treat brain injury conditions. The contributors describe different biomarker studies pertaining to brain injury and other neurological disorders and analyze the different models and technologies used to identify these biological markers. The book includes findings from "Omics research" that have been utilized to decipher and identify such biomarkers. It discusses protein, microRNA, and altered gene profiles and reviews neurological disorders such as multiple sclerosis, Charcot-Marie-Tooth disease, and prion and Alzheimer s disease."
Nutrition and Epigenetics presents new information on the action of diet and nutritional determinants in regulating the epigenetic control of gene expression in health and disease. Each chapter gives a unique perspective on a different nutritional or dietary component or group of components, and reveals novel mechanisms by which dietary factors modulate the epigenome and affect development processes, chronic disease, and the aging process. This pivotal text: Documents the epigenetic effect of antioxidants and their health benefits Adds to the understanding of mechanisms leading to disease susceptibility and healthy aging Illustrates that the epigenetic origins of disease occur in early (fetal) development Synthesizes the data regarding nutrient and epigenomic interactions Nutrition and Epigenetics highlights the interactions among nutrients, epigenetics, and health, providing an essential resource for scientists and clinical researchers interested in nutrition, aging, and metabolic diseases.
Medical Epigenetics provides a comprehensive analysis of the importance of epigenetics to health management. The purpose of this book is to fill a current need for a comprehensive volume on the medical aspects of epigenetics with a focus on human systems, epigenetic diseases that affect these systems and modes of treating epigenetic-based disorders and diseases. The intent of this book is to provide a stand-alone comprehensive volume that will cover all human systems relevant to epigenetic maladies and all major aspects of medical epigenetics. The overall goal is to provide the leading book on medical epigenetics that will be useful not only to physicians, nurses, medical students and many others directly involved with health care, but also investigators in life sciences, biotech companies, graduate students and many others who are interested in more applied aspects of epigenetics. Research in the area of translational epigenetics is a cornerstone of this volume.
This contemporary book covers significant new knowledge that has emerged during the last two decades and, thus, provides novel antibody phylogenetic perspectives relevant to development of new antibody-based therapeutics and vaccines. It fills a much-needed niche in the area of immunoglobulin genetics across species from a comparative perspective. New insights and perspectives from immunoglobulin genetics from species such as sea lamprey, cattle, marsupial, bat, rat, rabbit, and swine other species than the traditional subjects of mice and humans are relevant to antibody design and engineering. These new perspectives find direct application in the cutting-edge areas of antibody design, engineering and therapeutics, antibody-drug conjugates, and novel antibody-based vaccines. This book fills the need to provide updated knowledge of this newly exploded area that is finding applications in new drug development. No other competing books on the topic are available in the market. The book will be of great interest to immunologists, immunology researchers, immunogeneticists, researchers in pharmaceutical science, those involved in the infectious disease and antibody therapeutics areas, and many others."
This title includes a number of Open Access chapters. This new volume on gene expression and epigenetics discusses environmental effects related to specific gene expression. The book also shows methods for bioinformatic analysis of the epigenome. The book is broken into two sections: the first looks at eukaryotic DNA methylation and the second addresses how to integrate genomic medicine into clinical practice. The book includes chapters on these topics: * Gene expression in colon cancer tissue * Epigenetics in human acute kidney injury * Embryologically relevant candidate genes in MRKH patients * DNA methylation in common skeletal disorders * Causal relationships in genomics * Predicting severe asthma exacerbations in children * Epigenetic understanding of gene-environment interactions in psychiatric disorders
The first volume of Stem Cells deals with the fundamental principles that govern embryonic and somatic stem cell biology. Historically, the identification and characterization of such pathways and general rules of stemness occurred during embryonic development and Volume I reflects this with topics spanning cell cycle regulation, epigenetics, and asymmetric cell division in a number of organ systems from planarian to human. Three specific sections discuss i) Basic Stem Cell Biology, ii) Tissue Formation During Development, and iii) Model Organisms with particular emphasis on those more relevant for biomedical research and, thus, leading to the topics addressed in Volume II.
Increasing evidence suggests that liver stem cells have the capacity to differentiate into parenchymal hepatocytes or into bile ductular cells. These stem cells may be activated to proliferate after severe liver injury or exposure to hepatocarcinogens. Stem cell replacement strategies are being investigated as an alternative approach to liver repair and regeneration. Additionally, stem cell transplantation has been shown to significantly improve liver function and increase survival in experimentally-induced liver-injury models in animals. In Liver Stem Cells: Methods and Protocols, expert researchers focus on several hepatic progenitor cells, hepatic differentiation form stem cells, bile ductal cell formation from stem cells, liver stem cells and hepatocarcinogenesi, and application of liver stem cells for cell therapy. These topics shed light on stem cell technology which may lead to the development of effective clinical modalities for human liver diseases. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Thorough and intuitive, Liver Stem Cells: Methods and Protocols seeks to aid scientists in the further study of preclinical and clinical investigations that explore the therapeutic potential of stem cells in repair of liver injuries.
Genetic information plays an increasingly important role in ourlives. As a result of the Human Genome Project, knowledge ofthe genetic basis of various diseases is growing, withimportant consequences for the role of genetics in clinicalpractice, health care systems and for society at large. In theclinical setting genetic testing may result in a better insightinto susceptibility for inheritable diseases, not only before orafter birth, but also at later stages in life. Besides prenataltesting and pre-conceptional testing, predictive testing hasresulted in new possibilities for the early detection, treatmentand prevention of inheritable diseases. However, not all inheritable diseases that can be predicted onthe basis of genetic information can be treated or cured.Should we offer genetic tests to people for untreatablediseases? Should we test every individual who wants to knowhis or her genetic status? Should we inform family membersabout the results of genetic tests of individuals, even whenthere are no possibilities for treatment? What, in such cases,is the role of the "right-not-to-know"? Should we informfamily members when there is only an increased risk of adisease? This book deals with the ethical issues of clinicalgenetics, as well as ethical issues that arise in geneticscreening, the research of populations, and the use of geneticinformation for access to insurance and the workplace.
Covers significant discoveries in the rapidly advancing field of metals and genetics. The aim of this volume is to bring together investigators from diverse fields of clinical medicine, genetics, biochemistry, and chemistry to reflect on the broad implications of direct and indirect interactions of metals and genetic components. The volume is divided into five sections. The first discusses genetic response to environmental exposure to metals. The section on metal carcinogenesis and metal caused DNA damage presents the latest advances in our knowledge of the molecular mechanisms of metal-induced mutagenis and carcinogenesis. A section is devoted to metals and neurodegenerative diseases. The identification of several disease genes related to metals is a major breakthrough in recent years. The section on genetics and biochemistry of metal-related diseases presents authoritative accounts of current (1999) information on both inherited and acquired metal-related diseases. They have discussed the genetics and pathophysiology of these diseases and reported the cloning, expression, purification, and characterization of gene products.
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.
This book covers recent developments and possible pitfalls in the diagnosis of genetic movement disorders and related conditions. It is divided into three sections: technical and scientific aspects; clinical aspects with guidance towards work-up; and ethical and legal aspects of genetic testing in a clinical and research setting. The first section includes chapters on genetic analysis and counselling with critical discussion of potential problems when interpreting the results. Clinical chapters summarize genetic forms of movement disorders including parkinsonism, tics and dystonia with algorithms for hands-on daily practice. Related conditions such as RLS, ataxias and dementias are also covered. Finally, chapters on ethical and legal aspects of genetic testing are included. Movement Disorder Genetics is aimed at clinicians and scientists working in the field of movement disorders and related conditions.
This book criticizes the suggestive implication of newer bioethics that we need a new ethical paradigm in order to handle with the innovations of medicine and biotechnology. It holds that these innovations have a suggestive character at all which is not relevant however in order to justify a paradigm shift in ethics. Especially the suggestions of reproduction, genetics, mercy killing and neuroscience reveal a misunderstanding about ethics. Moreover they show inevitably theological implications they actually like to avoid especially in secular ethics.
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.
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.
Carrier testing of adults provides information about the risk of passing a genetic mutation to your children, leading to reproductive (and some say, eugenic) decisions. Excessive carrier screening may have adverse effects, but it can also prevent suffering and open up new reproductive options. Raz's study focuses on the interplay of community genetics (the medical organisation of carrier screening) and genetic alliances (networks of individuals at risk), exploring how 'genetic communities' are emerging both within existing ethnic groups and around patients' organizations. While the interplay between carrier testing, reproduction and eugenics has sparked many discussions, this study provides a novel and much-needed perspective on its actual implementation and interpretation by community members. Conflating a cross-cultural spectrum of genetic communities, the benefits and perils of supporting (or restricting) carrier screening are located within broader social issues such as religion, ethnicity, multi-culturalism, abortion, stigmatization, suffering and care-giving. While carrier screening emerges as ultimately a morally justified pronatalist endeavour for the reduction of suffering, thus being different in principle from the 'old' eugenics, it can also carry unintended adverse consequences if left unattended to consumers, communities, or health professionals. |
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