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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
There is a new trend in anti-cancer therapeutics development: a targeted therapy and precision medicine that targets a subgroup of patients with specific biomarkers. An in vitro diagnostic (IVD) assay is required to identify a subgroup of cancer patients who would benefit from the targeted therapy, or not likely benefit, or have a high risk of side effects from the specific drug treatment. This IVD or medical device is called a companion diagnostic (CDx) assay. It is key to have a robust CDx assay or device for the success of targeted therapy and precision medicine. This book covers the technical, historical, clinical, and regulatory aspects of CDx in precision medicine. Clearly, more and more newly developed oncology drugs will require accompanying CDx assays, and this book, with chapters contributed by renowned oncologists, provides a comprehensive foundation for the knowledge and application of CDx for precision medicine.
This state-of-the-art review on longevity focuses on centenarians, studied as a model of positive biology. The extraordinary rise in the elderly population in developed countries underscores the importance of studies on ageing and longevity in order to decrease the medical, economic and social problems associated with the increased number of non-autonomous individuals affected by invalidating pathologies. Centenarians have reached the extreme limits of human life span. Those in relatively good health, who are able to perform their routine daily tasks, are the best examples of extreme longevity, representing selected individuals in which the appearance of major age-related diseases - including cancer and cardiovascular diseases - has been consistently delayed or avoided. The relationship between causality and chance is an open discussion topic in many disciplines. In particular, ageing, the related diseases, and longevity are difficult to define as a consequence of causality, chance or both. Discussing the relevance of these different factors in the attainment of longevity, the book gathers contributions on genetic, epigenetic and phenotypic aspects of centenarians. The "positive biology" approach is applied to clarify the causes of positive phenotypes, as well as to explain the biological mechanisms of health and well-being with the aim of preventing and/or reducing frailty and disability in the elderly.
The controversial topic of the technology of Pre-implantation Genetic Diagnosis, and the muddled approach to this subject adopted by the UK Parliament, is explored in detail in this volume. The author takes the viewpoint that the HFEA has taken insufficient notice to date of certain core ethical principles and makes the case for a much more ethically consistent and humane system than has been managed so far. Arguing that many of the fears and objections levied against Robert Nozick's notion of the 'Genetic Supermarket' by disability activists, christian bioethicists and radical feminists, amongst others, are internally inconsistent, philosophically unsound or merely highly improbable, the author considers a number of individual policy decisions of the HFEA and addresses such questions as:
This book is an essential resource for law students of all levels and professionals working within or interested in medical and healthcare law and medical genetics.
The controversial topic of the technology of Pre-implantation Genetic Diagnosis, and the muddled approach to this subject adopted by the UK Parliament, is explored in detail in this volume. The author takes the viewpoint that the HFEA has taken insufficient notice to date of certain core ethical principles and makes the case for a much more ethically consistent and humane system than has been managed so far. Arguing that many of the fears and objections levied against Robert Nozick's notion of the 'Genetic Supermarket' by disability activists, christian bioethicists and radical feminists, amongst others, are internally inconsistent, philosophically unsound or merely highly improbable, the author considers a number of individual policy decisions of the HFEA and addresses such questions as:
This book is an essential resource for law students of all levels and professionals working within or interested in medical and healthcare law and medical genetics.
This volume offers readers an opportunity to learn about how genomes are sequenced, what discoveries have so far come out of this scientific revolution, and about the ethical dimensions of this advancing technology. The revised edition focuses on the new advances in genome technology and builds upon the strong basic biological format that was established in the original publication. It also takes advantage of the recent major advances in genome level sequencing and analysis to demonstrate the vast increase in biological knowledge over the past decade.
This innovative book provides a unique perspective on the biomedical and societal implications of personalized medicine and how it will help mitigate the healthcare crisis and rein in ever-growing expenditure. It introduces the reader to underlying concepts at the heart of personalized medicine - pharmacogenomics, targeted therapies and individualized diagnosis and treatment - and shows how, with the advent of genomic technologies, clinicians will have the capability to predict and diagnose disease more efficiently. Advocating a patient-centred approach at the heart of care, this introduction to personalized medicine, the science behind it, its economic effects, its effects upon patients and its overall implications for society will be invaluable to clinicians, to healthcare providers and to patients.
Unique in its focus on this particular field of cardiovascular science, Molecular Mechanisms of Cardiac Hypertrophy and Failure reviews current knowledge of the mechanisms contributing to heart failure.Bringing together an internationally renowned team of contributors, the text provides expert reviews on the latest advances in molecular and cell biology, biochemistry and pharmacology. scientists in academia and industry, the book has particular emphasis on the following key areas: - cardiac hypertrophy - contractile depression - arrhythmogenesis - genetics - the clinical implications of the research in these areas. interest to clinical cardiologists, vascular medicine specialists, hematologists, and internists, as well as members of the cardiovascular research community and pharmaceutical and biotechnology industries.
Genetics and Gene Therapy shows the wide range of the debate and the very real significance that genetics and its associated developments have for human beings, individually and collectively. Few areas of science and medicine have resulted in the volume of academic and popular literature as has genetics. The so-called revolution in understanding of the causes of disease states, and even behavioural traits, has focussed public attention on the influence of genes in making us what we are. Rapidly, however, the potential benefits of such understanding were overtaken, in the public mind at least, by the question of the possible (negative) implications of genetic knowledge and associated technologies. The chapters in this volume show just how wide-ranging concern has become, ranging from regulation to cloning, with the fear of discrimination in between. Part One begins with a range of general discussions of about the genetic enterprise itself, followed by consideration of some specific questions. Part Two then addresses cutting edge debates in genetics.
The view "It's all in our genes and we cannot change it" developed in the past 150 years since Gregor Mendel's experiments with flowering pea plants. However, there is a special form of genetics, referred to as epigenetics, which does not involve any change of our genes but regulates how and when they are used. In the cell nucleus our genes are packed into chromatin, which is a complex of histone proteins and genomic DNA, representing the molecular basis of epigenetics. Our environment and lifestyle decisions influence the epigenetics of our cells and organs, i.e. epigenetics changes dynamically throughout our whole life. Thus, we have the chance to change our epigenetics in a positive as well as negative way and present the onset of diseases, such a type 2 diabetes or cancer. This textbook provides a molecular explanation how our genome is connected with environmental signals. It outlines that epigenetic programming is a learning process that results in epigenetic memory in each of the cells of our body. The central importance of epigenetics during embryogenesis and cellular differentiation as well as in the process of aging and the risk for the development of cancer are discussed. Moreover, the role of the epigenome as a molecular storage of cellular events not only in the brain but also in metabolic organs and in the immune system is described. The book represents an updated but simplified version of our textbook "Human Epigenomics" (ISBN 978-981-10-7614-8). The first five chapters explain the molecular basis of epigenetics, while the following seven chapters provide examples for the impact of epigenetics in human health and disease.
Research into DNA and the development of powerful techniques to produce DNA profiles enable experts to appear in court and give compelling. scientific evidence in many types of case. This book gives the legal practitioner a complete account of the issues involved in taking DNA evidence into court. It helps lawyers to ask important and probing questions when faced with such evidence in court. This second edition has been thoroughly updated to take account of recent legislation and case law.
Over the past few years there has been a proliferation of genetic databases and biobanks, which promise to increase scientists' understandings of the way our genes interact with the environment. These biomedical research projects involve hundreds of thousands of people worldwide who are asked to donate blood and tissue samples as well as personal information. The control, exploitation and ownership of such detailed personal medical information by governments and by commercial companies is generating social and ethical controversy. Genetic Databases offers a timely analysis of the underlying tensions, contradictions and limitations of the current regulatory frameworks for and policy debates about genetic databases. Drawing on original empirical research and theoretical debates in the fields of sociology, anthropology and legal studies, the contributors to this book challenge the prevailing orthodoxy of informed consent and explore the relationship between personal privacy and the public good. They also consider the multiple meanings attached to human tissue and the role of public consultations and commercial involvement in the creation and use of genetic databases. The authors argue
Over the past few years there has been a proliferation of genetic databases and biobanks, which promise to increase scientists' understandings of the way our genes interact with the environment. These biomedical research projects involve hundreds of thousands of people worldwide who are asked to donate blood and tissue samples as well as personal information. The control, exploitation and ownership of such detailed personal medical information by governments and by commercial companies is generating social and ethical controversy. contradictions and limitations of the current regulatory frameworks for and policy debates about genetic databases. Drawing on original empirical research and theoretical debates in the fields of sociology, anthropology and legal studies, the contributors to this book challenge the prevailing orthodoxy of informed consent and explore the relationship between personal privacy and the public good. They also consider the multiple meanings attached to human tissue and the role of public consultations and commercial involvement in the creation and use of genetic databases. representation of participation that is often at odds with the experiences and understandings of those taking part. The findings present a serious challenge for public policy to provide mechanisms to safeguard the welfare of individuals participating in genetic databases. The book is written in an accessible style that will appeal to a multidisciplinary and international audience, and is relevant to policy discussions in Europe and in North America, as well as other countries that are developing similar initiatives. It will be of great interest to academics and students of medical sociology, health studies, public health, public policy and ethics.
Originally published in 1976, this volume reports research that will help us to understand the causes of psychogenic diseases. It deals both experimentally and theoretically with the question of symptom specificity in psychosomatic research - why some individuals respond to psychological stress with gastric disorders, others with sexual impotence, and still others with high blood pressure. As the author notes in summarizing his conclusions, "The repeated pairing of activation of a given organic system with intense nervous stress directs the pathological influence of the stressor primarily upon the system activated; subsequently the natural stimuli which would ordinarily activate the system in a normal manner sustain the pathological stressor's effect as a conditioned stimulus for the stressor effect." The translation of this work from the original Russian brings to the attention of Western investigators new and useful models of stress-induced disorders, and sheds new light on the pervasive problem of psychosomatic disease.
Since the advent of cDNA microarrays, oligonucleotide array technology, and gene chip analysis, genomics has revolutionized the entire field of biomedical research. A byproduct of this revolution, toxicogenomics is a fast-rising star within toxicological analysis.
Combining elements of biochemistry, molecular biology, and immunology, artificial DNA can be employed in a number of scientific disciplines. Some of the varied applications include site-specific mutagenesis, hybridization, amplification, protein engineering, anti-sense technology, DNA vaccines, protein vaccines, recombinant antibodies, screening for genetic and pathogenic diseases, development of materials with new biochemical and structural properties, and many more.
Molecular Genetics of Cancer, Second Edition provides an authoritative and up to date review of the key genes known to be critical in the development or progression of cancer. Throughout the book, scientific advances and their clinical relevance are covered in detail, particularly in the light of findings concerning the inheritance of genes predisposing to tumorigenesis. The book is therefore a valuable source of reference for clinicians and genetic counsellors as well as researchers.
Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library!
Sickle cell and thalassaemia are among the world's most common genetic conditions. They are especially common in Africa, Brazil, the Caribbean, the Middle East and Asia. They affect all ethnic groups but they particularly impact on minority ethnic groups in North America, Europe and Australasia. Much research has focused on clinical, laboratory and genetic studies of these conditions. Through a wide-ranging selection of readings based on social scientific research into sickle cell and thalassaemia, this book seeks to redress this imbalance. This is important as, through an examination of the different social, economic and cultural contexts of the lives of people living with sickle cell or thalassaemia, the contributors demonstrate that people are more than the sum of their genes and that their life experiences are rarely derived solely from the clinical severity of their condition but depend on the social context of their lives. Genetics and Global Public Health presents a new concluding chapter which highlights the critical nature of social science research for sickle cell and thalassaemia communities, providing key insights into the social contexts of human behaviour and analysing how societal arrangements could change to assist people living with either condition. It will be of great interest to postgraduate and research students as well as professionals working in the field of public health. This book was originally published as a special issue of the journal Ethnicity and Health.
This book, written by a leading geneticist, examines the ethical
and social issues raised by the genetic testing of children. The
opinions of geneticists, ethicists and affected families are all
included to give a balanced view of this controversial field.
Issues covered include confidentiality, potential abuses of genetic
information (eg the use of test results by insurance companies) and
the value of predictive genetic testing.
This book demonstrates that a pandemic of coronary heart disease occurred in North America, western and northern Europe, and Australia and New Zealand from the 1930s to about 2000. At its peak it caused more deaths than any other disease. The book examines and compares trends in coronary heart disease mortality rates for individual countries. The most detailed analyses are for the United States, where mortality rates are examined for race, sex, and age groups and for geographic regions. Popular explanations for the rise and fall of coronary heart disease mortality rates are examined.
The book is primarily concerned with DNA fingerprinting and DNA profiling in the context of forensic medicine and kinship testing. It concentrates on methods of determining the degree of relatedness of members of the same species, focusing on humans and occasionally glancing at other species.
Using the clinical picture of triplet repeat disorders as a starting point, this work reviews and integrates understanding of the molecular pathologies, the genotype-phenotype relationships, and the mutational processes of trinucleotide repeats of triplet repeat disorders. Laboratory and clinical issues relating to genetic testing for these disorders are also addressed. This book is aimed at clinicians and researchers in genetics, neuroscience, paediatrics and psychiatry.
The adipokines (also called adipocytokines), are a group of peptides secreted by adipose tissue. They have diverse roles, from the cell to the whole body. The book is designed for health scientists, doctors, physiologists, immunologists, biochemists, college and university teachers and lecturers, undergraduates and graduates. The chapters are written either by experts or specialists in their field.
An important new collection of clinical and preclinical reports on genetic therapy, this book describes illustrative examples of diseases in which gene-based interventions are presently plausible, and presents case studies of current research using both synthetic oligonucleotides and biological vectors. Combining the insights of over 50 contributors, Clinical Trials of Genetic Therapy with Antisense DNA and DNA Vectors -furnishes a historical overview of genetic therapy -highlights official Food and Drug Administration positions on the preparation of oligonucleotides and vectors -offers practical models of agent preparation, animal testing, pharmacokinetics, toxicology, and clinical trials -discusses both synthetic DNA and biological vector approaches to cancer, viral, and cardiological indications -illustrates for new practitioners how each stage of genetic therapy is developed -details genetic treatment of leukemia; lymphoma; cancer of the brain, breast, colon, kidney, and lung; melanoma; HIV; and coronary restenosis -includes examples of antisense, ribozyme, tumor suppressor, immunostimulation, and gene replacement therapy -and addresses questions of preparation, delivery, toxicity, mechanism, and specificity.
This textbook provides an introduction to neuroscience, focusing particularly on the rapidly developing aspects. The techniques of molecular biology are introduced and described in the context of their role in elucidating brain function at the molecular level. |
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