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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
This book examines the basic cellular and molecular mechanisms associated with aging. It comprehensively describes the genetic, epigenetic, biochemical and metabolic regulation of aging, as well as some important age-related diseases. Divided into two major sections, it takes readers through the various aspects of aging in a story-like manner and suggests various interventions for healthy aging, such as dietary restriction, regular exercise, nutrition and maintaining a balanced and a non-stressful lifestyle. It describes the implications of aging on the nervous system, metabolism, immunity and stem cells as well as care for the elderly. The book is an ideal companion for both new and established researchers in the field and is also useful for educators, clinicians and policy makers.
This second edition volume brings together the experiences of leading scientists in the discipline of cancer gene profiling. Because cancer genes can be profiled in many different ways, Cancer Gene Profiling: Methods and Protocols, Second Edition explores different techniques and approaches needed to understand the key stages of cancer development, as using only one technique would be insufficient. This book provides readers with an overview of the state-of-the-art methods that will enable them to perform these experiments, and demonstrates the kind of analysis that is possible in our current biomedical research. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Thorough and cutting-edge, Cancer Gene Profiling: Methods and Protocols, Second Edition is a great resource for any student or practitioner with an interest in cancer gene profiling, and can be used in any well-equipped research laboratory.
Donald Michie was an extraordinary character. In a scientific
career that spanned nearly 65 years, he was the pioneer in several
fields including computing, mouse embryology, transplantation
biology, and machine intelligence. Tragically, he died in a car
crash in 2007.
This book details recently developed technologies and conventionally employed cytological proceduresfor the study of X-Chromosome Inactivation. Chapters detail live imaging, bioinformatic methods, fluorescence in situ hybridization, and immunofluorescence, and procedures to optimize the study of molecular mechanism underlying X chromosome inactivation. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, X-Chromosome Inactivation: Methods Protocols aims to be useful for researchers in the field of epigenetics, chromatin, noncoding RNA, and nuclear architecture.
This detailed second edition volume expands upon the prior edition by addressing newly emerged technologies as well as improved existing protocols in nucleic acid delivery via nanotechnology. The book addresses topics ranging from chemical synthesis of macromolecules and bioconjugates, novel and established nanoformulations, characterization of these nanoformulations for biophysical, biological and toxicological aspects, and also protocols dealing with application and imaging of such carrier systems in vivo. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective chapters, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and up-to-date, Nanotechnology for Nucleic Acid Delivery: Methods and Protocols, Second Edition serves as an ideal guide to researchers seeking to use this vital area of study in their own lab work or to progress knowledge within the field itself.
Genetics and Genomics for the Cardiologist is a concise, but comprehensive volume for the clinical cardiologist or medical student interested in learning how molecular genetics is now being applied to prevention and treatment of heart diseases, from DNA tests to pharmacogenomics and gene-based therapeutics. The volume, written in a plain language, contains detailed figures. A rich glossary, three appendices, many references and several URLs provide additional sources of information.
An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication, and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.
In this new book, noted geneticist and veteran OUP author, Moyra Smith, will present a comprehensive critical review of the translation of genetic and genomic research into health care. Dr. Smith's motivation for writing is driven by the gap that exists between the rather amazing discoveries in medical genetics and genomics at basic science levels and the translation of these advances into evidence-based clinical practice. She will examine experimental and observational research and translation to disease management in single gene disorders, specific genetic syndromes, and complex genetic diseases. She will also examine information technology in genetic medicine, sociocultural factors that impact provision of medical care, and medical education issues with regard to translational genetics in order to help prepare a work force that is better able to utilize evidence-based medicine and to accommodate the rapid changes in genetic and genomic health care.
Sex is a fundamentally important biological variable. Recent years
have seen significant progress in the integration of sex in many
aspects of basic and clinical research, including analyses of sex
differences in brain function. Significant advances in the
technology available for studying the endocrine and nervous systems
are now coupled with a more sophisticated awareness of the
interconnections of these two communication systems of the body. A
thorough understanding of the current knowledge, conceptual
approaches, methodological capabilities, and challenges is a
prerequisite to continued progress in research and therapeutics in
this interdisciplinary area.
Drugs are administered to patients with the intention of achieving
an expected therapeutic response. Yet drug therapy remains a
medical art because of the wide variation in individual responses
to standard drug doses. Pharmacogenetics emerged as a field aimed
at identifying heritable factors that are predictive of individual
variations in drug efficacy and toxicity from the dedicated work of
a small group of investigators who in the 1950s began to enrich the
discipline of pharmacology by integrating it with human genetics.
Pharmacogenetics provides the experimental framework to understand
variation in human reactions to drugs and other exogenous
substances as a function of inborn human genetic variability.
Recently, pharmacogenetics has experienced a period of rapid growth
and redefinition. The human genome initiative has provided a wealth
of primary genetic information and functional genomic data to fuel
the understanding of genetic polymorphism and its functional
consequences on a genomic scale. Today, the field of
pharmacogenetics is a well-integrated, worldwide network engaging a
vast community of academic, institutional, and industrial
scientists.
Infectious diseases are commonly regarded as a distinct category, with different causes and patterns than chronic or genetic disease. But in fact there are many varieties of genetic susceptibility to infection, the subject of this book, which will be divided into three sections: 1) concepts and methods, 2) genes and pathophysiologic mechanisms, and 3) infectious agents and diseases. No currently plubished text on either genetics or infectious diseases focuses on the genetic aspects of the special relationship between host and pathogen in the way envisioned for Section 1. No other work on the selected genes regulating immunity deals as systematically with the sequence variation/function relationships most pertinent to infection as planned for Section 2. And no other book gives as meaningful a picture of how these genes operate in infectious disease as Section 3 will.
Population Genetics of Multiple Loci F. B. Christiansen University
of Aarhus, Denmark "This is a very beautiful and powerful study of
an area that Christiansen has dominated for many years." - Marcus
Feldman, Stanford University, USA Population genetics thrives on
the constant interaction between theoretical and empirical
knowledge. In the first instance, population genetics was developed
using one-locus, two-allele models for genetic variation. The
simplicity of these models opened up theoretical developments in
population and evolutionary genetics to biologists without
specialist training in mathematics. Population genetics of
multi-allelic loci is more complex and requires more mathematical
insight, and its study is predominantly undertaken by mathematical
biologists. Traditional formulations of multi-locus theory do not
simplify by assuming two alleles per locus. In this elegant
presentation the author provides a formulation of multi-locus
population genetics that retains the simplicity of two-allele
models.
This volume shares technologies that detect common epigenetic changes which are very important in the early detection, progression, and prognosis of cancer as well as the design of new therapeutic tools against cancer cells. Beginning with a bit of background on epigenetic mechanisms, Cancer Epigenetics: Risk Assessment, Diagnosis, Treatment, and Prognosis continues with cancer specific type epigenetic change, methods and technologies used for detecting epigenetic changes, factors that influence epigenetic changes in cancer, as well as a final section on future directions in the field. Written for the highly successful Methods in Molecular Biology series, chapters in this volume include the kind of detailed implementation advice that guarantees easily reproducible results. Comprehensive and practical, Cancer Epigenetics: Risk Assessment, Diagnosis, Treatment, and Prognosis provides the most up-to-date knowledge of epigenetics and its implication in cancer prevention by risk assessment and screening and cancer control by treatment.
This volume outlines key steps associated with the design, building, and testing of synthetic metabolic pathways for optimal cell factory performance and robustness, and illustrates how data-driven learning from these steps can be used for rational cost-effective engineering of cell factories with improved performance. Chapters are divided into four sections focusing on the four steps of the iterative design-build-test-learn cycle related to modern cell factory engineering. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Synthetic Metabolic Pathways: Methods and Protocols aims to ensure successful results in the further study of this vital field.
The study of molecular events leading to cellular transformation and cancer has progressed considerably during the 1990s. It has become apparent that many genes subject to modification in cancer are, in fact, transcription factors that govern the execution of the genetic programme of the cell. Transcription factors can behave either as oncogenes or as tumor supressor genes. To date only a very limited number of transcription factors have been associated with cancer. This volume gives molecular information on several oncogenes, tumor suppressor genes or chromosomal translocations. Each chapter contains a description of the structure of such transcription factors, the nature of target genes, the regulation of their activities and an explaination of how they can deregulate cell growth and differentiation. This book should be suitable for the specialist scientist and the advanced student
Review Questions of Clinical Molecular Genetics presents a comprehensive study guide for the board and certificate exams presented by the American College of Medical Genetics and Genomics (ACMG) and the American Board of Medical Genetics and Genomics (ABMGG). It provides residents and fellows in genetics and genomics with over 1,000 concise questions, ranging from topics in cystic fibrosis, to genetic counseling, to trinucleotide repeat expansion disorders. It puts key points in the form of questions, thus challenging the reader to retain knowledge. As board and certificate exams require knowledge of new technologies and applications, this book helps users meet that challenge.
This third edition provides new and updated chapters on gene therapeutic strategies of cancer. Chapters guide readers through suicide and oncolytic gene therapy, gene replacement and gene suppression therapy, vector development and refinement, immunogene therapy, TCR and CAR engineering, tumor vaccination using DNA or RNA vaccines, and antitumoral immune stimulation at different levels. Written in the format of the highly successful Methods in Molecular Biology series, each chapter includes an introduction to the topic, lists necessary materials and reagents, includes tips on troubleshooting and known pitfalls, and step-by-step, readily reproducible protocols. Authoritative and cutting-edge, Gene Therapy of Cancer: Methods and Protocols, Third Edition aims to be a useful and practical guide to new researchers and experts looking to expand their knowledge.
This is an insider's account of 50 years of genetic studies of the soil-inhabiting microbes that produce most of the antibiotics used to treat infections, as well as anti-cancer, anti-parasitic and immunosuppressant drugs. The book begins by describing how these microbes - the actinomycetes - were discovered in the latter part of the nineteenth century, but remained a 'Cinderella' group until, in the 1940s, they shot to prominence with the discovery of streptomycin, the first effective treatment for tuberculosis and only the second antibiotic after penicillin to become a medical marvel. There followed a massive effort over several decades to find further treatments for infectious diseases and cancer, tempered by the rise of antibiotic resistance consequent on antibiotic misuse and over-use. The book goes on to describe the discovery of gene exchange in the actinomycetes in the context of the rise of microbial genetics in the mid-20th century, leading to determination of the complete DNA sequence of a model member of the group at the turn of the millennium. There follow chapters in which the intricate molecular machinery that adapts the organisms' metabolism and development to life in the soil, including antibiotic production, is illuminated by the DNA blueprint. Then comes an up-to-the minute account of the use of genetic engineering to make novel, hybrid antibiotics and a topical description of techniques to learn the roles of the thousands of genes in a genome sequence, throwing a powerful light on the biology of the organisms and their harnessing for increasing antibiotic prductivity. In the final chapter we return to the mycobacteria that cause tuberculosis and leprosy, the first actinomycetes to be discovered, and how methodology, in part derived from the study of the streptomycetes, is being applied to understand and control these still deadly pathogens.
Evolution's Clinical Guidebook: Translating Ancient Genes into Precision Medicine demonstrates, through well-documented examples, how an understanding of the phylogenetic ancestry of humans allows us to make sense out of the flood of genetic data streaming from modern laboratories and how it can lead us to new ways to prevent, diagnose and treat diseases. Topics cover evolution and human genome, meiosis and other recombinants events, embryology, speciation, phylogeny, rare and common diseases, and the evolution of aging. This book is a valuable source for bioinformaticians and those in the biomedical field who need knowledge, down to gene level, to fully comprehend currently available data.
This book summarizes early pioneering achievements in the field of human neural stem cell (hNSC) research and combines them with the latest advances in stem cell technology, including reprogramming and gene editing. The powerful potential of hNSC to generate and repair the developing and adult CNS has been confirmed by numerous experimental in vitro and in vivo studies. The book presents methods for hNSC derivation and discusses the mechanisms underlying NSC in vitro fate decisions and their in vivo therapeutic mode of action. The long-standing dogma that the human central nervous system (CNS) lacks the ability to regenerate was refuted at the end of the 20th century, when evidence of the presence of neurogenic zones in the adult human brain was found. These neurogenic zones are home to human neural stem cells (hNSCs), which are capable of self-renewing and differentiating into neurons, astrocytes and oligodendrocytes. NSCs isolated from human CNS have a number of clinical advantages, especially the innate potential to differentiate into functional neural cells. Nevertheless, their full clinical exploitation has been hindered by limited access to the tissue and low expansion potential. The search for an alternative to CNS sources of autologous, therapeutically competent hNSCs was the driving force for the many studies proving the in vitro plasticity of different somatic stem cells to generate NSCs and their functional progeny. Now the era of induced pluripotent stem cells has opened entirely new opportunities to achieve research and therapeutic goals with the aid of hNSCs.
"In this remarkably broad and far-reaching work, editor Mark Rothstein and his distinguished list of contributors have laid out an impressive framework for the field. Beginning with a survey of public attitudes, and progressing through scientific, clinical, governmental, legal, economic, and societal issues, the text builds to a final provocative epilogue on consequences for public policy." Pharmacogenomics promises to revolutionize medicine by enabling the prevention, diagnosis, and treatment of diseases at the genome level. While a substantial amount of public and private research focuses on new pharmacogenomic applications, notably less attention has been directed to the ethical, legal, and social implications of "individualized medicine." Mark Rothstein’s timely anthology reduces that scholarship deficit, presenting a multidisciplinary analysis of the scientific, clinical, economic, ethical, social, and legal implications of pharmacogenomics. Assembling an all-star cast of bioethical scholars, medical researchers, legal scholars, and social scientists, Mark Rothstein examines the promises, questions, and concerns these revolutionary therapies implicitly present. Among other features, Pharmacogenomics:
Biotechnology and pharmaceutical researchers and regulators, health care professionals and students, and academics and policymakers will find Pharmacogenomics to be a valuable resource.
Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and appropriate treatment. The book examines recent advances in understanding and treating short stature in Noonan Syndrome, along with the latest progress in growth hormone-dependent signaling pathways involved in short stature, one of the most frequent clinical manifestations. Chapters also address how patients with Noonan Syndrome undergo more than average surgical procedures and have a great bleeding risk. This must have reference for pediatric endocrinologists and practicing physicians will give them all the information they need on the topic.
This new edition of Introduction to the Cellular and Molecular Biology of Cancer provides a concise yet comprehensive overview of cancer biology, covering the current status of both research and treatment. For the student or new researcher the breadth of cancer research can appear daunting, yet a broad understanding is essential for translation of laboratory findings into the clinic. Within the broad scope of the book, each topic is reviewed authoritatively by experts in the field, and the accompanying bibliographies allow rapid access to the relevant current literature. The book covers topics extending from the molecular alterations found in cancer cells and their causes to the current range of approaches to treatment. Since the publication of the previous edition in 1997 there has been unprecedented progress in cancer research:
This book is aimed at analyzing the foundations of medical ethics by considering different moral theories and their implications for judgments in clinical practice and policy-making. It provides a review of the major types of ethical theory that can be applied to medical and bioethical issues concerning reproductive genetics. In response to the debate on the most adequate ethical doctrine to guide biomedical decisions, this book formulates views that capture the best elements in each, bearing in mind their differences and taking into account the specific character of medicine. No historically influential position in ethics is by itself adequate to be applied to reproductive decisions. Thus, this book attempts to offer a pluralistic approach to biomedical research and medical practice. One usually claims that there are some basic principles (non-maleficence, beneficence, confidentiality, autonomy, and justice) which constitute the foundations of bioethics and medical ethics. Yet these principles conflict with each other and one needs some criteria to solve these conflicts and to specify the scope of application of these principles. Exploring miscellaneous ethical approaches as introduced to biomedicine, particularly to reproductive genetics, the book shall elucidate their different assumptions concerning human nature and the relations between healthcare providers, recipients, and other affected parties (e.g. progeny, relatives, other patients, society). The book attempts to answer the question of whether the tension between these ethical doctrines generates conflict in the field of biomedicine or if these competing approaches could in some way complement each other. In this respect, lecturers and researchers in bioethics would be interested in this reading this book. |
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