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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
This volume provides established approaches for identifying, characterizing, and manipulating circRNAs in vitro, in vivo, and in silico. Chapters highlight the breakthroughs and the challenges in this new field of 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. Authoritative and practical, Circular RNAs: Methods and Protocols aims to useful and informative for further study into this vital field.
Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine-in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management.
The field of Structural Genomics has produced many technological advances that transform and accelerate structure solution and analysis. Structural Genomics: General Applications emphasizes the benefits to the wider structural research community. It also reflects the current trend in tackling the more ambitious challenges of studying macromolecular machineries and complexes. Divided into three convenient sections, topics include the cloning and production of proteins for structural studies, experimental methods, and computational methods and data analysis. Written in the 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 protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and easily accessible, Structural Genomics: General Applications aims primarily to channel spin-off technologies to the average structural biologist in a small or medium-sized laboratory.
Microarray technology has made strong progress over the past decade, and there have also been significant changes in application areas, from nucleic acids to proteomics and from research to clinical applications. This book provides a comprehensive overview of microarrays in diagnostics and biomarker development, covering DNA, peptide, protein and tissue arrays. The focus is on entities that are in actual clinical use, or quite close, and on recent developments, such as peptide and aptamer arrays. A further topic is the miniaturisation towards "nanoarrays", which is expected to have great potential in clinical applications. Relevant issues of bioinformatics and statistical analysis of array data are discussed in detail, as well as the barriers to the commercialisation of array-based tests and the vexing IP issues involved. Thus, the book should be very useful tor active array users as well as to newcomers seeking to make the best choice between different technologies.
Second edition of the only comprehensive and student-friendly introduction to molecular exercise physiology available 12 chapter structure around which a complete single-semester course can be built Explains the concepts of exercise physiology at a molecular level in clear, accessible language and relates them to real practical and applied outcomes Covers applications in both sport and health-related physical activity Includes new chapters on the molecular aspects of exercise and cancer, and exercise and metabolic and cardiovascular diseases Every chapter includes useful features such as learning objectives, summaries, structured guides to further reading, review questions, overviews of work by key researchers and box discussions of important contemporary debates
Genetic Toxicology Testing: A Laboratory Manual presents a practical guide to genetic toxicology testing of chemicals in a GLP environment. The most commonly used assays are described, from laboratory and test design to results analysis. In a methodical manner, individual test methods are described step-by-step, along with equipment, suggested suppliers, recipes for reagents, and evaluation criteria. An invaluable resource in the lab, this book will help to troubleshoot any assay problems you may encounter to optimise quality and efficiency in your genetic toxicology tests. Genetic Toxicology Testing: A Laboratory Manual is an essential reference for those new to the genetic toxicology laboratory, or anyone involved in setting up their own.
1 D.V. Schaffer, W. Zhou: Gene Therapy as Future Human Therapeutics.- 2 J. Heidel, S. Mishra, M.E. Davis: Molecular Conjugates.- 3 M. Manthorpe, P. Hobart, G. Hermanson, M. Ferrari, A. Geall, B. Goff, A. Rolland: Plasmid Vaccines and Therapeutics: From Design to Applications.- 4 S.R. Little, R. Langer: Non-Viral Delivery of Cancer Genetic Vaccines.- 5 J.C. Grieger, R.J. Samulski: Adeno-Associated Virus as a Gene Therapy Vector: Vector Development, Production and Clinical Applications.- 6 J.H. Yu, D.V. Schaffer: Advanced Targeting Strategies for Murine Retroviral and Adeno-Associated Viral Vectors.- 7 N. Loewen, E.M. Poeschla: Lentiviral Vectors.- 8 N.E. Altaras, J.G. Aunins, R.K. Evans, A. Kamen, J.O. Konz, J.J. Wolf: Production and Formulation of Adenovirus Vectors.-
Quorum sensing (QS) describes a chemical communication behavior that is nearly universal among bacteria. Individual cells release a diffusible small molecule (an autoinducer) into their environment. A high concentration of this autoinducer serves as a signal of high population density, triggering new patterns of gene expression throughout the population. However QS is often much more complex than this simple census-taking behavior. Many QS bacteria produce and detect multiple autoinducers, which generate quorum signal cross talk with each other and with other bacterial species. QS gene regulatory networks respond to a range of physiological and environmental inputs in addition to autoinducer signals. While a host of individual QS systems have been characterized in great molecular and chemical detail, quorum communication raises many fundamental quantitative problems which are increasingly attracting the attention of physical scientists and mathematicians. Key questions include: What kinds of information can a bacterium gather about its environment through QS? What physical principles ultimately constrain the efficacy of diffusion-based communication? How do QS regulatory networks maximize information throughput while minimizing undesirable noise and cross talk? How does QS function in complex, spatially structured environments such as biofilms? Previous books and reviews have focused on the microbiology and biochemistry of QS. With contributions by leading scientists and mathematicians working in the field of physical biology, this volume examines the interplay of diffusion and signaling, collective and coupled dynamics of gene regulation, and spatiotemporal QS phenomena. Chapters will describe experimental studies of QS in natural and engineered or microfabricated bacterial environments, as well as modeling of QS on length scales spanning from the molecular to macroscopic. The book aims to educate physical scientists and quantitative-oriented biologists on the application of physics-based experiment and analysis, together with appropriate modeling, in the understanding and interpretation of the pervasive phenomenon of microbial quorum communication."
Collaborative Genomics Projects: A Comprehensive Guide contains operational procedures, policy considerations, and the many lessons learned by The Cancer Genome Atlas Project. This book guides the reader through methods in patient sample acquisition, the establishment of data generation and analysis pipelines, data storage and dissemination, quality control, auditing, and reporting. This book is essential for those looking to set up or collaborate within a large-scale genomics research project. All authors are contributors to The Cancer Genome Atlas (TCGA) Program, a NIH- funded effort to generate a comprehensive catalog of genomic alterations in more than 35 cancer types. As the cost of genomic sequencing is decreasing, more and more researchers are leveraging genomic data to inform the biology of disease. The amount of genomic data generated is growing exponentially, and protocols need to be established for the long-term storage, dissemination, and regulation of this data for research. The book's authors create a complete handbook on the management of research projects involving genomic data as learned through the evolution of the TCGA program, a project that was primarily carried out in the US, but whose impact and lessons learned can be applied to international audiences.
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.
This volume covers the latest protocols designed to identify and characterize TEs in genomes, ancient or recently inserted. Additionally, this book includes a series of protocols designed to understand how host genomes act to regulate the activity of TEs, from elegant genetic mobilization assays to key biochemical methods. Finally, this book also includes chapters that describe how TEs can be used for biotechnological applications. Written for the Methods in Molecular Biology series, 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, Transposons and Retrotransposons: Methods and Protocols aims to ensure successful results in the further study of this vital field.
Psychiatry and clinical psychology have long been divided about the roles of nature and nurture in the pathways to psychopathology. Some clinicians offer treatment almost entirely based on neuroscience. Some psychologists offer psychotherapies almost entirely based on the impact of environmental stressors. Paris argues for a balanced middle ground between nature and nurture in human development. This book reviews and integrates research showing that the key to understanding the development of mental disorders lies in interactions between genes and environment. It explores why personality is a key determinant of how people respond to stress, functioning as a kind of psychological immune system. This model represents a shift from overly simple and reductionistic constructs, based primarily on biological risks or on psychosocial risks in development. Instead, it offers a complex and multivariate approach that encourages a broader approach to treatment. This book is essential for all mental health clinicians who are interested in understanding the roles of nature and nurture in the development of psychopathology.
Provides the current state of the art of genome editing technologies used in basic and applied research. Bring the latest advances in CRISPR/Cas9 technologies for treating genetic diseases. Provides future prospects and directions for clinical research.
Thebookis intended to be a resource for students as well as scientists in education and for the general public to learn about proteomics and genomics. Chromosomes form the basis for our genetic heritage and are the code for protein synthesis. The Human Genome Map came out in 2002, and the Proteome Sequence Map is under currently being created by a global consortia initiative. Proteome and genome building blocks already form the basis of scientific research areas as well as large parts of the pharmaceutical and biomedical industry. The book initiative will provide the background to and our current understanding of these gene and protein areas, as well as describe how cutting-edge science is using these resources to develop new medicines and new diagnostics for patient care and treatment. The book will be useful for undergraduate students as well as university students and researchers who need a good understanding of genomics and proteomics within the clinical field. The book will also be targeted at a broad public as well as readers not specialized within this field. Dr. Marko-Varga is the head of the Head of Div. Clinical Protein Science & Imaging at the Biomedical Center, Dept. of Measurement Technology and Industrial Electrical Engineering, Lund University, and Professor at the 1st Department of Surgery, Tokyo Medical University, Tokyo, Japan."
This book examines the complex ways in which television articulates ideas about DNA in the early 21st century. Considering television's distinct aesthetic and narrative forms, as well as its specific cultural roles, it identifies TV as a key site for the genetic imaginary. The book addresses the key themes of complexity and kinship, which function as nodes around which older essentialist notions about the human genome clash with newly emergent post-genomic sensibilities. Analysing a wide range of US and UK programmes, from science documentaries, science fiction serials and crime procedurals, to family history programmes, sitcoms and reality shows, Television and the Genetic Imaginary illustrates the extent to which molecular frameworks of understanding now permeate popular culture.
New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine. New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding. Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking. Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders. The unique case-based structure and format remains the same, but substantial new material has been added to cover: polygenic risk scores - now starting to become useful clinical service tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient's whole exome for the cause of their problem
Providing a guide to classical experimental approaches to decipher splicing mechanisms and experimental strategies that rely on novel multi-disciplinary approaches, Spliceosomal Pre-mRNA Splicing: Methods and Protocols describes the theory of alternative pre-mRNA splicing in seven introductory chapters and then introduces protocols and their theoretical background relevant for a variety of experimental research. These protocol chapters cover basic methods to detect splicing events, analyses of alternative pre-mRNA splicing in vitro and in vivo manipulation of splicing events and high-throughput and bioinformatic analyses of alternative splicing. 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 protocols and tips on troubleshooting and avoiding known pitfalls. Comprehensive and practical, Spliceosomal Pre-mRNA Splicing: Methods and Protocols will aid newcomers and seasoned molecular biologists in understanding the fascinating world of alternative splicing with the ultimate goal of paving the way for many new discoveries to come.
Are you considering to test your own DNA? Do you want to learn more about your health and ancestry? Understand your DNA - A Guide is about what you can use genetics for. For a few hundred dollars, you can now scan your own genes. Millions of people all over the world have already done so. Everyone wants to see what they can get to know about themselves, and the market growing rapidly. But what does it require from you? And what can you really use a DNA test for? Understand your DNA - A Guide helps you put the plots and charts of consumer genetics into perspective and enables you to figure out what's up and down in the media headlines. The book is also a key input for today's debate about what we as a society can and want to do with medical genetics. Genetics will play a growing role in the future. Understand your DNA - A Guide is an easy-to-read and necessary guide to that future. The book is provided with a foreword by Professor Sham Pak-Chung of Hong Kong University.While there are many books about genetics, they typically take the perspective of a scientist wanting to understand the molecular levels. At the same time, direct-to-consumer genetics is a booming market, with millions of people already tested. Very little has been published that will guide them for real, because the need here is more focused on medical and practical understanding, than focussed on molecules.This book therefore aims to hit that vacant spot in the market. It's a walk-through of all concepts that are necessary to understand in your own analysis. Meanwhile, it is also limited in scope to only those concepts - thus distinguishing it from broader works.The book is appropriate for the readerships in modern multi-ethnic metropolises because it mixes European and Asian examples, both from the collaboration between the author from Europe and the foreword-writer, Prof. Pak Sham of Hong Kong University. But also, because many of the examples in the book concerns differences and similarities between Asian and European ethnicities, something the author believes is a trend in time.Related Link(s)
The book provides a concise overview of currently applicable regulatory frameworks of states which are among the world leaders in research and development (R&D) of cell and gene therapies. Developments in genome editing are expected to lead to new possibilities for the treatment of hereditary diseases in humans. The treatment of such often severe but hitherto uncurable diseases can be based on genome-edited induced pluripotent stem cells (iPS cells). Such treatments constitute combined cell/gene therapies. These therapies need to be governed by a regulatory framework which ensures quality, safety, and efficacy of the relevant therapeutic products. On the other hand, such regulations may retard product approval and impede R&D. Accordingly, national regulations for therapies based on genome-edited iPS cells are an important and, as the case may be, decisive factor for both researchers and industry regarding their decision where to locate their R&D activities. Therefore, regulatory frameworks impact significantly on the competitiveness of states and their economies. This is why a comparative analysis of laws and regulations of different countries matters. Such a comparative legal analysis provides an important insight into regulatory concepts which, in turn, may inspire adjustments of, or amendments to, domestic legal regimes. For this purpose, experts present country reports on France, Germany, Japan, South Korea, Switzerland, and the USA. The reports on France and Germany also refer to the parameters and implications arising from pertinent EU law. This contributed volume is aimed at researchers, but also at, e.g., legal scholars, lawmakers, regulators, and political decision makers.
This volume details the most recent advancements in the field of mitochondrial gene expression. Chapters guide readers through methods and protocols on mtDNA replication, transcription, and translation to membrane insertion of the mtDNA-encoded protein products. 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, Mitochondrial Gene Expression: Methods and Protocols aims to provide complementary approaches and practical guidelines. Chapter 7 is available Open Access under a Creative Commons Attribution 4.0 International License via link.springer.com.
This book presents a collection of chapters, which address various contexts and challenges of the idea of human enhancement for the purposes of human space missions. The authors discuss pros and cons of mostly biological enhancement of human astronauts operating in hostile space environments, but also ethical and theological aspects are addressed. In contrast to the idea and program of human enhancement on Earth, human enhancement in space is considered a serious and necessary option. This book aims at scholars in the following fields: ethics and philosophy, space policy, public policy, as well as biologists and psychologists.
This book presents an overview of the diagnostic performance of non- or semi-invasive tests for endometriosis in peripheral blood, endometrium, saliva, peritoneal fluid and urine. The value of existing and emerging systems biology technologies for biomarker development is addressed in several chapters on genetics, microarrays, proteomics and metabolomics. Although tests with high sensitivity and acceptable specificity have been developed, sometimes validated in independent populations and seem promising, more research is needed to translate these data into clinical benefit for patients and coordinate efforts internationally to standarize analysis, reports and operating procedures. The gold standard to diagnose endometriosis is currently through laparoscopic inspection with histological confirmation, a surgical procedure with rare but significant potential risks for the patients. A non-invasive test for endometriosis would be critical for the early detection of endometriosis of symptomatic women with pelvic pain and/or subfertility with normal ultrasound. This would include nearly all cases of minimal-mild endometriosis, some cases of moderate-severe endometriosis without a clearly visible ovarian endometrioma and cases with pelvic adhesions and/or other pelvic pathology, who might benefit from surgery to improve pelvic pain and/or subfertility. Such a test would also be useful in symptomatic women with ultrasound imaging suspicious for endometriosis, since it may be difficult to differentiate an ovarian endometrioma from other ovarian cysts and since the quality of ultrasound imaging is highly variable worldwide.
The insights following in the wake of the Human Genome project are radically influencing our understanding of the molecular basis of life, health and disease. The improved accuracy and precision of clinical diagnostics is also beginning to have an impact on therapeutics in a fundamental way. "Molecular Medicine for Clinics" is suitable for undergraduate medical students as part of their basic sciences training, but is also relevant to interested under- and postgraduate science and engineering students. It serves as an introductory text for medical registrars in virtually all specialties, and is also of value to the General Practitioner wishing to keep up to date, especially in view of the growing, internet-assisted public knowledge of the field. There is a special focus on the application of molecular medicine in Africa and in developing countries elsewhere.
Understanding the functional roles of DNA modifications relies on the accurate detection, quantification, and mapping of DNA modifications. Methods for deciphering DNA modifications have substantially improved over the last several years, which greatly revolutionize the field of DNA modifications. In addition to DNA cytosine methylation (5-methylcytosine, 5mC), the best-characterized epigenetic modification, many new modifications have been discovered to present in DNA in recent years. This book provides a comprehensive overview of available techniques and methods together with detailed step-by-step protocols for experimental procedures required to successfully perform analysis on various types of DNA modifications, including 5mC, 5-hydroxymethylcytosine (5hmC), 5-formylcytosine (5fC), 5-carboxycytosine (5caC), 5-hydroxymethyluracil (5hmU), 5-formyluracil (5fU), N6-methyladenine (6mA), -D-glucosyl-5-hydroxymethyluracil (base J) and 8-oxo-7,8-dihydroguanine (OG). This laboratory manual is a valuable source for biochemists and molecular biologists from different fields who wish to investigate DNA modifications. |
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