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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
A Two Ribosome Model for Attenuation (G.W. Hatfield). Regulation of Ribosomal Proteins mRNA Translation in Bacteria (C. Portier, M. GrunbergManago). How Elongation Factors Steer the Ribosomal Elongation Cycle (K.H. Nierhaus, F. Triana). Genetics of Translation Initiation Factors in Saccharomyces cerevisiae (L. Feng, T.F. Donahue). Regulation of GCN4 Expression in Yeast (A.G. Hinnebusch et al.). Co and PostTranslational Processes and Mitochondrial Import of Yeast Cytochrome c (F. Sherman et al.). EIF4E Phosphorylation and the Regulation of Protein Synthesis (R.M. Frederickson, N. Sonenberg). InterferonInduced and DoubleStranded RNAActivated Proteins (A.G. Hovanessian). Translational Regulation by Vaccinia Virus (R. Bablanian). Translational Control by AdenovirusAssociated RNA I (B. Thimmapaya et al.). Translational Regulation in Adenovirus Infected Cells (R.J. Schneider, Y. Zhang). 12 additional articles. Index.
Molecular Medicine is the application of genetic or DNA-based
knowledge to the modern practice of medicine. "Molecular Medicine,"
4e, provides contemporary insights into how the genetic revolution
is influencing medical thinking and practice. The new edition
includes recent changes in personalized medicine, new growth in
omics and direct-to-consumer DNA testing, while focusing on
advances in the Human Genomeproject and implications of the
advances in clinical medicine. Graduate students, researchers,
clinicians and allied health professionals will appreciate the
background history and clinical application of up-to-date molecular
advances.
While there has been an increasing number of books on various aspects of epigenetics, there has been a gap over the years in books that provide a comprehensive understanding of the fundamentals of chromatin. Chromatin is the combination of DNA and proteins that make up the genetic material of chromosomes. Its primary function is to package DNA to fit into the cell, to strengthen the DNA to prevent damage, to allow mitosis and meiosis, and to control the expression of genes and DNA replication. The audience for this book is mainly newly established scientists and graduate students. Rather than going into the more specific areas of recent research on chromatin the chapters in this book give a strong, updated groundwork about the topic. Some the fundamentals that this book will cover include the structure of chromatin and biochemistry and the enzyme complexes that manage it.
GENETICS AND GENOMICS FOR NURSING brings together the genetics and genomics knowledge nurses need to provide safe and effective care in today's "genomic era." It teaches through small, modular units, each with pretests, section quizzes, and post-tests. Answers are provided to help students check their knowledge, and Emerging Evidence and Critical Thinking checkpoints encourage them to apply it. The text first places modern genetics in context, introduces its essential principles, and outlines its deep ethical, legal, social, and public policy implications. Next, readers learn how to take family genetic histories and assess risks; utilize immunogenetics and cancer genetics in cancer prevention and treatment; apply genetics in public health promotion; recognize the role of genes in psychiatric illnesses and in aging; and much more.
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.
Psychiatric Genetics provides the reader with a complete view of the methodological problems encountered in psychiatry genetics and proposes solutions to commonly occurring questions. The best European and American specialists have given a thorough review on the advantages and disadvantages of genetic epidemiological methods, the way to choose a genetic marker or a clinical interview and how to ascertain patients, unaffected relatives and controls and what should be the criteria to include a case or a control. New phenotypic methods are described focusing on candidate symptom and endophenotype approaches. Examples coming from cognitive neurosciences, biochemistry, electrophysiology and brain imaging techniques are reviewed. This book will serve as an essential handbook for psychiatrists, psychologists, and geneticists involved in the genetics of psychiatric disorders.
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.
Our series Cancer Prevention - Cancer Control continues to address the causes and prevention of cancer. In this volume, Hill, Elwood, and English bring together a rich resource summarizing the state of science underpinning the primary prevention of skin cancer. While skin cancer causes an increasing burden, particularly in populations of European origin, our understanding of the role of sun exposure together with the genetic components of skin cancer continues to grow. Given the emphasis on evidence-based medicine and public health prevention efforts, it is noteworthy that, although we can all access the same evidence base, countries around the world have had remarkably different responses to the application of this knowledge to prevent skin cancer. The outstanding contribution of the Australian public health community to the scientific understanding of skin cancer etiology and the translation of this knowledge into national prevention efforts uniquely positions the editors to compile this volume focused on the primary prevention of skin cancer. In so doing they draw on an international team of authors to present a "state of the science" summary of skin cancer prevention and to identify those areas where uncertainty remains. To achieve successful prevention of cancer we must translate our scientific knowledge base into effective prevention programs. This book offers the reader keen insights into the depth of our understanding of etiologic pathways for skin cancer. This etiologic science base is complemented by rigorous prevention science placing emphasis on the social context for effective and sustained prevention efforts.
The cytokines are a group of peptides secreted by cells of the immune system such as macrophages, lymphocytes and T cells. The term cytokine is however simplistic and in fact they can be divided into functional families and have wide ranging effects from cells and molecular pathways to the whole individual. Written by distinguished scholars and experts, this book is a holistic knowledge-base to enable scientists and doctors to understand cytokines in specific or broad detail.
During our short time on earth, we all undergo the highly complex process of aging, and with it, we experience the many physiological symptoms. Studies of premature aging have produced a great deal of information that gives some aspects of aging a better understanding. This book explores Werner's syndrome. To some, Werner's syndrome is considered a caricature of aging, but others will find it fascinating that only one mutated human gene (WRN) can bring about a multitude of complicated phenotypes that are usually associated with aging.
This book offers an authoritative review of biopharmaceuticals and their clinical relevance. Biopharmaceuticals have been showing high therapeutic potential by means of biological and biosimilar medicines, particularly for the treatment of cancer, chronic diseases (e.g. diabetes, Crohn's disease, psoriasis and rheumatoid arthritis), neurodegenerative disorders (e.g. multiple sclerosis), and they have also been contributing to the progress of innovative therapies such as assisted reproductive medicine. Since the eighties, several biopharmaceuticals have been approved and, due to patents expiration, many biosimilars are also marketed. In this book, readers will find the most relevant updated information about the main clinical applications of pharmaceutical biotechnology. The authors provide expert analysis about the industrial challenges of recombinant proteins and the different classes of biopharmaceuticals, including monoclonal antibodies, vaccines, growth factors and stem cells. Topics such as bioprinting technologies in tissue engineering, gene therapy and personalized medicine are also covered in this book. Professionals, students and researchers interested in this field will find this work an important account.
How does the genome, interacting with the multi-faceted environment, translate into the development by which the human brain achieves its astonishing, adaptive array of cognitive and behavioral capacities? Why and how does this process sometimes lead to neurodevelopmental disorders with a major, lifelong personal and social impact? This volume of "Progress in Brain Research" links findings on
the structural development of the human brain, the expression of
genes in behavioral and cognitive phenotypes, environmental effects
on brain development, and developmental processes in perception,
action, attention, cognitive control, social cognition, and
language, in an attempt to answer these questions.
As nutrition research is shifting its focus from epidemiology and physiology to effects of nutrients at the molecular level, a uniquely tailored diet that corresponds to the demands of our genetic signature is emerging as an indispensable need. Using high-throughput genomic tools, nutrigenomics unravels the influence of micro- and macronutrients as potent dietary signals regulating metabolic pathways and unmasks how susceptible genotypes are predisposed to diet-related diseases. Selected topics from this field have been covered in some books, but no other comprehensive text on epigenetics, nutrition, and human health and disease is available, until now. This book illustrates nutrition's influence on epigenetic inheritance and the mechanisms underlying the modification of the metabolic imprint of an individual. This enriched understanding of nutrigenomics can be applied to master a tailored diet that can alleviate imprinted metabolic syndromes. Specifically, the book focuses on: * Maternal, perinatal, and neonatal nutrition * Epigenetic mechanisms and cancer * Impacts of dietary factors, folate deficiency and DNA methylation * Nutrition's influence on genetic imprinting * The basics of nutrigenomics and epigenetic regulation
The third edition of Human Malformations and Related Anomalies is a comprehensive reference and clinical guide to significant human malformations. Authored by 40 authorities in genetics and dysmorphology, this streamlined new edition offers an authoritative and richly illustrated guide to clinical presentation, associated anomalies, treatment, and prognosis.
Genome-editing methods are becoming routine tools for molecular and cell biologists. Such tools include ZFNs, CRISPR, megaTALs and TALENs. These tools are revolutionizing the creation of precisely manipulated genomes to modify the characteristics of organisms or cells. Additionally, gene drives have altered the way we understand inheritance laws. They give us the ability to have total control of the inheritance of traits of choice and importance. This succinct volume summarizes the history, principles and applications - as well as the advantages and disadvantages - of each of these tools and various kinds of gene drives. The book is part of a program to produce books helpful to students and faculties of science at colleges and universities. This volume in the Pocket Guides to Biomedical Sciences series will help demystify these technologies. The book fills the gap between established conventional methods and the novel and exciting newly introduced tools of genome editing and gene drives. It will help young scientists understand the emerging genome-editing tools and gene drives, thereby promoting related research and adoption. Key Features Extensively reviews the current genome-editing tools and gene drives Clarifies the targeting mechanisms and specificity of genome-editing tools Details many different types of natural and synthetic gene drives Highlights concerns with gene drives and genome-editing tools Related Titles Brown, T. A. Genomes 4 (ISBN 978-0-8153-4508-4) Samuelsson, T. The Human Genome in Health and Disease: A Story in Four Letters (ISBN 978-0-8153-4591-6) Soh, J., et al. Genome Annotation (ISBN 978-1-4398-4117-4)
Genome-editing methods are becoming routine tools for molecular and cell biologists. Such tools include ZFNs, CRISPR, megaTALs and TALENs. These tools are revolutionizing the creation of precisely manipulated genomes to modify the characteristics of organisms or cells. Additionally, gene drives have altered the way we understand inheritance laws. They give us the ability to have total control of the inheritance of traits of choice and importance. This succinct volume summarizes the history, principles and applications - as well as the advantages and disadvantages - of each of these tools and various kinds of gene drives. The book is part of a program to produce books helpful to students and faculties of science at colleges and universities. This volume in the Pocket Guides to Biomedical Sciences series will help demystify these technologies. The book fills the gap between established conventional methods and the novel and exciting newly introduced tools of genome editing and gene drives. It will help young scientists understand the emerging genome-editing tools and gene drives, thereby promoting related research and adoption. Key Features Extensively reviews the current genome-editing tools and gene drives Clarifies the targeting mechanisms and specificity of genome-editing tools Details many different types of natural and synthetic gene drives Highlights concerns with gene drives and genome-editing tools Related Titles Brown, T. A. Genomes 4 (ISBN 978-0-8153-4508-4) Samuelsson, T. The Human Genome in Health and Disease: A Story in Four Letters (ISBN 978-0-8153-4591-6) Soh, J., et al. Genome Annotation (ISBN 978-1-4398-4117-4)
Debating Human Genetics is based on ethnographic research focusing primarily on the UK publics who are debating and engaging with human genetics, and related bio and techno-science. Drawing on recent interviews and data, collated in a range of public settings, it provides a unique overview of multiple publics as they 'frame' the stake of the debates in this emerging, complex and controversial arena. The book outlines key sites and applications of human genetics that have sparked public interest, such as biobanks, stem cells, genetic screening and genomics. It also addresses the 'scientific contoversies' that have made considerable impact in the public sphere - the UK police DNA database, gene patenting, 'saviour siblings', and human cloning. By grounding the concepts and issues of human genetics in the real life narratives and actions of patient groups, genetic watchdogs, scientists, policy makers, and many other public groups, the book exemplifies how human genetics is a site where public knowledge and value claims converge and collide, and identifies the emergence of 'hybrid publics' who are engaging with this hybrid science.
Debating Human Genetics is based on ethnographic research focusing primarily on the UK publics who are debating and engaging with human genetics, and related bio and techno-science. Drawing on recent interviews and data, collated in a range of public settings, it provides a unique overview of multiple publics as they 'frame' the stake of the debates in this emerging, complex and controversial arena. The book outlines key sites and applications of human genetics that have sparked public interest, such as biobanks, stem cells, genetic screening and genomics. It also addresses the 'scientific contoversies' that have made considerable impact in the public sphere - the UK police DNA database, gene patenting, 'saviour siblings', and human cloning. By grounding the concepts and issues of human genetics in the real life narratives and actions of patient groups, genetic watchdogs, scientists, policy makers, and many other public groups, the book exemplifies how human genetics is a site where public knowledge and value claims converge and collide, and identifies the emergence of 'hybrid publics' who are engaging with this hybrid science.
This issue on psychiatric genetics gives a clinically-minded approach to the newest thinking in genetics and pharmacogenomics, including articles on genetic epidemiology; molecular approaches; epigenetics; and genetic considerations in schizophrenia, bipolar disorder, major depression, obsessive-compulsive disorder, alzheimer's disease, autism, ADHD, and addictions. The issue concludes with articles on diagnostic testing, and pharmacogenomics.
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.
Dr. Anjali Aggarwal is working as a Senior Scientist at National Dairy Research Institute, Karnal (India). She holds a PhD degree in Animal Physiology and is involved in research and teaching at post-graduate level. Her area of research work is stress and environmental physiology. She has more than 50 publications, two technical bulletins, four manuals and many book chapters to her credit. She has successfully guided many post-graduate and PhD students. Her major research accomplishments are on microclimatic modification for alleviation of heat and cold stress, mist and fan cooling systems for cows and buffaloes, and use of wallowing tank in buffaloes. Her work involves the use of technology of supplementing micronutrients during dry period and early lactation to crossbred and indigenous cows for alleviating metabolic and oxidative stress and improved health and productivity. Studies are also done in her lab on partitioning of heat loss from skin and pulmonary system of cattle and buffaloes as a result of exercise or exposure to heat stress. Dr. R.C. Upadhyay is working as Head, Dairy Cattle Physiology Division at National Dairy Research Institute, Karnal (India). He graduated in Veterinary Sciences and obtained his PhD degree in Animal Physiology. His area of recent research is climate change, stress, and environmental physiology. His major research accomplishment is on climate change impact assessment of milk production and growth in livestock. His work also involves studying methane conversion and emission factors for Indian livestock and use of IPCC methodology of methane inventory of Indian livestock. Heat shock protein-70 expression studies in cattle and buffaloes are also done in his lab. Draught animal power evaluation, fatigue assessment, work-rest cycle and work limiting factors form the highlights of his work. Studies on partitioning of heat loss from skin and pulmonary system of cattle and buffaloes and electrocardiographic studies in cattle, buffalo, sheep and goat are also undertaken in his lab. He has more than 75 research papers, four books and several book chapters to his credit. Technologies developed and research done by him include methodology of methane measurement: open and closed circuit for cattle and buffaloes; inventory of methane emission from livestock using IPCC methodology; livestock stress index: thermal stress measurement based on physiological functions; and draught power evaluation system and large animal treadmill system. He received training in Radio-nuclides in medicine at Australian School of Nuclear Technology, Lucas heights, NSW, Australia in 1985 and Use of radioisotopes in cardiovascular investigations at CSIRO, Prospect, NSW, Australia, during 1985-86. He has guided several post-graduate and PhD students. He is recipient of Hari Om Ashram Award-1990 (ICAR) for outstanding research in animal sciences.
There exists today a fast growing availability of personal genetic information. Its prognostic impact and value for an individual or family member's health is sometimes unclear, whilst at other times it is clear-cut. The issue of whether to disclose genetic information does however have wide ranging implications. Avoiding the rhetoric of 'genetic exceptionalism', and drawing on an expanded field of bioethical, sociological and anthropological research, this book sets a new agenda for discussing the ethics surrounding the disclosure of prognostic genetic information. A hermeneutical approach reconsiders the ethics of disclosure in a variety of contexts in which genetic information is generated, requested, interpreted or communicated - from the provider perspective, but also from the moral perspectives of clients and their families. It is in situations of disclosure, in these different contexts, that genetic information meets morality. Providers and recipients can become vulnerable to the revelation or concealment of information, and the forms in which it may be provided. Disclosure Dilemmas invites readers to explore these contexts from an ethical viewpoint and will be a valuable resource for anyone with an interest in biomedical ethics.
Provides an introduction to the various statistical techniques involved in medical research and drug development with a focus on estimating the success probability of an experiment Success Probability Estimation with Applications to Clinical Trials details the use of success probability estimation in both the planning and analyzing of clinical trials and in widely used statistical tests. Devoted to both statisticians and non-statisticians who are involved in clinical trials, Part I of the book presents new concepts related to success probability estimation and their usefulness in clinical trials, and each section begins with a non-technical explanation of the presented concepts. Part II delves deeper into the techniques for success probability estimation and features applications to both reproducibility probability estimation and conservative sample size estimation. Success Probability Estimation with Applications to Clinical Trials: Addresses the theoretical and practical aspects of the topic and introduces new and promising techniques in the statistical and pharmaceutical industries * Features practical solutions for problems that are often encountered in clinical trials * Includes success probability estimation for widely used statistical tests, such as parametric and nonparametric models * Focuses on experimental planning, specifically the sample size of clinical trials using phase II results and data for planning phase III trials * Introduces statistical concepts related to success probability estimation and their usefulness in clinical trials Success Probability Estimation with Applications to Clinical Trials is an ideal reference for statisticians and biostatisticians in the pharmaceutical industry as well as researchers and practitioners in medical centers who are actively involved in health policy, clinical research, and the design and evaluation of clinical trials.
This is the first comprehensive book on human/animal gene responses to RNA viral infections, including prevalent, emerging and re-emerging RNA viruses such as HIV, SARS-CoV, West Nile virus, influenza virus and many others. Human gene responses are reviewed by leading virologists worldwide in the following aspects: (i) the altered gene expression profiles at the transcriptional and translational levels detected with cutting-edge technologies such as cDNA microarray and proteomics; (ii) host innate and adapted immune responses to viral replication in target organs; (iii) virus-activated signal transduction pathways in cell survival, apoptosis and autophagosomal pathways; and (iv) the small interfering RNA/microRNA-mediated gene silencing pathway, a recently characterized new host defense mechanism against viral infection. Organized into 27 highly accessible and well-illustrated chapters, this volume explores state-of-the-art knowledge of the molecular mechanisms of RNA virus infection and host virus interactions. This comprehensive compilation of the altered gene expression profiles and signal transduction pathways in host cells in response to the majority of human/animal RNA viruses opens new directions for basic and clinical research on viral pathogenesis, and also provides valuable biomarkers for researchers to select gene targets in the development of diagnostic tests and antiviral therapeutics for a number of infectious diseases. |
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