In 2009 the University Medicine Greifswald launched the "Greifswald Approach to Individualized Medicine" (GANI_MED) to implement biomarker-based individualized diagnostic and therapeutic strategies in clinical settings. Individualized Medicine (IM) has led not only to controversies about its potentials, but also about its societal, ethical and health economic implications. This anthology focusses on these areas and includes - next to clinical examples illustrating how the integrated analysis of biomarkers leads to significant improvement of therapeutic outcomes for a subgroup of patients - chapters about the definition, history and epistemology of IM. Additionally there is a focus on conceptual philosophical questions as well as challenges for applied research ethics (informed consent process, the IT-based consent management and the handling of incidental findings). Finally it pays attention to health economic aspects. The possibilities of IM to initiate a paradigm shift in the German health care provision are investigated. Furthermore, it is asked whether the G-DRG system is ready for the implementation of such approaches into clinical routine.

Anyone interested in comparative biology or the history of science will find this myth-busting work genuinely fascinating. It draws attention to the seminal studies and important advances that have shaped systematic and biogeographic thinking. It traces concepts in homology and classification from the 19th century to the present through the provision of a unique anthology of scientific writings from Goethe, Agassiz, Owen, Naef, Zangerl and Nelson, among others.

This volume provides readers with a wide collection of the latest and readily reproducible technical protocols available in the field of non-viral gene delivery vectors. The chapters in this book are organized into three major parts: Part I is a section on conventional bolus gene delivery vectors that introduces typical transfection approaches relying on the addition of transfectants to the cell culture medium where the cells are grown in; Part II covers stimuli-responsive bolus transfectants and topics on gene delivery complexes made of smart polymers or stimuli-responsive polymers that change according to the environment they are in and delivered by dripping into cells; Part III discusses examples of substrate-mediated gene delivery-also termed reverse transfection-and the immobilization of a gene delivery vector onto a surface as opposed to more typical bolus delivery from the medium. 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. Cutting-edge and practical, Non-Viral Gene Delivery Vectors: Methods and Protocols is written for experimentalists, and is an essential part of many laboratory bookshelves. This book will help novice and professionals alike succeed in their research in this field.

Induced pluripotent stem cells in cardiovascular research.- TRPs in the brain.-The channel physiology of the skin."

To what extent should parents be able to choose the kind of child they have? The unfortunate phrase 'designer baby' has become familiar in debates surrounding reproduction. As a reference to current possibilities the term is misleading, but the phrase may indicate a societal concern of some kind about control and choice in the course of reproduction. Typically, people can choose whether to have a child. They may also have an interest in choosing, to some extent, the conditions under which they do so, such as whether they have a child with a serious disability or disease. The purpose of this book is to explore the difficult and controversial question of the appropriate ethical and legal extent of reproductive autonomy in this context. The book examines ethical, legal and public policy issues in prenatal screening, prenatal diagnosis (PND), selective abortion and preimplantation genetic diagnosis (PGD). It explores the ethics of these selection practices and the ability of current ethical guidelines and legal mechanisms, including the law on selective abortion and wrongful birth, to deal with advances in genetic and other knowledge in these areas. Unlike in the United States, in England the relevant law is not inherently rights-based, but the impact of the Human Rights Act 1998 inevitably raises questions about the proper scope of reproductive autonomy in this context. The implications of the analysis are considered for the development of relevant law, public policy and ethical guidelines and will be of interest to academics in medical law and ethics, health professionals, lawyers, those working on public policy and students with an interest in these issues.

Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell, every tissue, mitochondrial disorder usually affects multiple organs.

Blood Cell Biochemistry was initially conceived as part of the Plenum series Subcellular Biochemistry, from which it has developed into a separate series. The present volume is devoted primarily to contributions on megakaryocytes and platelets and, to a lesser extent, to macrophages and eosinophils. The book does not attempt a rigorous or total coverage of the particular topics; it represents the areas of current scientific activity and interest that were selected by the editor at the commencement of this project. In general, the approach has been similar to that adopted for Volume 1 of the series (Erythroid Cells); the same approach will be followed subsequently in Volume 3 (Lymphocytes and Granulocytes). This book opens with a developmentally oriented chapter by Janine Breton-Gorius on megakaryocyte maturation and platelet release in normal conditions, which serves to set the scene ultrastructurally for much of the data that follow. The biosynthesis and process ing of platelet glycoproteins in megakaryocytes is dealt with by Alain Duperray and his colleagues, and thereby provides an in-depth biochemical survey of the megakaryocyte. The applications and strengths of crossed immunoelectrophoresis for the study of platelet membrane proteins is then covered by Simon Karpatkin, and a detailed account of the heredity disorders of platelet function is provided by Francine Rendu and Evelyne Dupuy."

The three-dimensional organization of the DNA inside the eukaryotic cell nucleus has emerged a critical regulator of genome integrity and function. Increasing evidence indicates that nuclear pore complexes (NPCs), the large protein channels that connect the nucleus to the cytoplasm, play a critical role in the establishment and maintenance of chromatin organization and in the regulation of gene activity. These findings, which oppose the traditional view of NPCs as channels with only one: the facilitation of nucleocytoplasmic molecule exchange, have completely transformed our understanding of these structures. This book describes our current knowledge of the role of NPCs in genome organization and gene expression regulation. It starts by providing an overview of the different compartments and structures of the nucleus and how they contribute to organizing the genome, then moves to examine the direct roles of NPCs and their components in gene expression regulation in different organisms, and ends by describing the function of nuclear pores in the infection and genome integration of HIV, in DNA repair and telomere maintenance, and in the regulation of chromosome segregation and mitosis. This book provides an intellectual backdrop for anyone interested in understanding how the gatekeepers of the nucleus contribute to safeguarding the integrity and function of the eukaryotic genome.

When we worked on Down Syndrome brain in the past we have been focus ing on adult brain. This was a major step forwards as most work on Down Syndrome was carried out on fibroblasts or other tissues and, moreover, we introduced proteomics to identify and quantify brain protein expression. We considered evaluation of brain protein expression in Down Syndrome brain by and by more important than gene hunting at the nucleic acid level realiz ing the long unpredictable way from RNA to protein. The availability of fetal samples along with the proteomic appproach stimulated and reinforced studies on Down Syndrome brain. And indeed, it was found out that some observations on aberrant protein expression in adult Down Syndrome brain could not be verified in the fetal samples indi cating that neurodegeneration in adult Down Syndrome brain may have been responsible rather than trisomy 21. Using brains from the early second trimester of gestation led to the generation of a series of clues for the under standing of aberrant wiring of the brain in Down Syndrome and enabled the determination of altered key functions in early life; e. g. undetectably low drebrin was observed in Down Syndrome cortex, an integral constituent and marker for dendritic spines, main effectors of cross-talk between neurons. In addition, evaluation of the nature of the neuronal deficits in terms of neuro transmission markers could be established as well as neuronal density in fetal Down Syndrome cortex."

This book highlights key technologies and identifies areas for further development in proteogenomics. The utility and usefulness of very large Omics data sets (Next Gen Sequencing of DNA, RNA-seq, ribosome profiling, mass spectrometry- and antibody-based proteomics) is discussed and opportunities and challenges of related bioinformatics applications are outlined. The reader will be able to appreciate the interdisciplinary nature of the continuously evolving area of proteogenomics, which has already grown beyond its original concept of verifying gene annotations by proteomics. The chapters presented in this book are arranged to offer a general overview, rather than to provide detailed descriptions of technologies. The selected applications will provide useful insight into the level of detail that can be obtained in relation to certain diseases areas, including cancer biology and personalized medicine. The readers will find that each chapter delivers a comprehensive approach to proteogenomics, each from the point of view of a specific application. Research scientists interested in innovative processes that can offer a unique and at the same time a more complete access to technological developments and concepts that in turn can contribute to a better understand biological functions should read this book.

Metagenomics has proven to be a powerful tool for exploring the ecology, metabolic profiling, and comparison of complex microbial communities as well as its important applications in the mining of metagenomes for genes encoding novel biocatalysts and drug molecules for bioindustries. In Metagenomics: Methods and Protocols, expert researches provide an overview and introduction to basic methods commonly used in laboratories that have a strong background in microbial metagenomics. The book attempts to address all of the working steps involved in this crucial field, beginning with DNA isolation from soils and marine samples and continuing with the construction and screening of libraries, along with key advise involving bioinformatic tools available to analyze large metagenomic sequence data sets. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include brief 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, Metagenomics: Methods and Protocols serves as a very complete guide to available screening protocols for all major biocatalysts in order to allow for the easy setup of these screens in any microbiology lab.

The evaluation of potential mutagenic activity is a critical step in the assessment of the safety of both new and pre-existing chemical types. In Genetic Toxicology: Principles and Methods, expert contributors help to satisfy the demand for education in this tremendously important area of study. The volume covers three basic areas: the scientific basis of the discipline, the methodologies of the main test assays, and the application of the methods, all aimed primarily at scientists in the safety departments of the industries working with both natural and synthetic chemicals. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Intuitive and cutting-edge, Genetic Toxicology: Principles and Methods provides crucial support to both laboratory workers in providing quality information on the appropriate application of techniques and to study directors in their assay selection and protocol design in this vital field.

This book provides an overview of the role and function of regulatory RNAs that lack protein-coding potential in key reproductive tissues. This includes the role of small interfering RNAs (siRNAs), microRNAs (miRNAs), PIWI-interacting RNAs (piRNAs), small nucleolar RNAs (snoRNAs) and long non-coding RNAs (lncRNAs). Through clear, detailed and comprehensive debate, international leading experts discuss the role these novel regulators in normal development of sexual dimorphisms, including the differentiation of ovaries and testes, the genital tract including prostate, epididymis and uterus, as well as mammary glands. In addition, particular attention is paid on their role in pathophysiological processes within the reproductive tract. The power of next generation sequencing has proved to be an invaluable tool to discover new non-coding RNAs. While the identification of non-coding RNA is relatively easy, analysing their function represents still a challenge today. In this book, authors present historical and conceptual background information, highlight the ways in which non-coding RNAs function is analysed and present their vision of the future research in their key research area.

Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients.
The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.

This book, written by very well known opinion leaders in the field, covers all aspects of familial Mediterranean fever, the most common monogenic autoinflammatory disease. The opening chapters explain the genetic basis of the disease and provide insights into the pathogenesis derived from recent experimental studies. A large part of the book is then devoted to a detailed description of the typical and atypical clinical presentations, the disease course, and potential complications in both pediatric and adult patients. Guidance is provided on the measurement of disease severity and the management of patients in daily practice. The advice regarding treatment is based on the best currently available evidence and attention is also paid to important emerging treatments. The book is part of Springer's series Rare Diseases of the Immune System, which presents recently acquired knowledge on pathogenesis, diagnosis, and therapy with the aim of promoting a more holistic approach to these conditions. Monogenic autoinflammatory diseases are hereditary disorders that are caused by single-gene defects in innate immune regulatory pathways and are characterized by a clinical and biological inflammatory syndrome in which there is limited, if any, evidence of autoimmunity. Familial Mediterranean fever itself is due to a mutation in the MEFV gene, which codes for the protein pyrin; it is characterized by periodic fever and episodes of painful inflammation in the abdomen, chest, and joints. Familial Mediterranean Fever will be an invaluable source of up-to-date information for all practitioners involved in the care of patients with the disease.

This second edition expands upon the previous volume with new and updated chapters. Auditory and Vestibular Research: Methods and Protocols, Second Edition guides readers through protocols on cell culture, tissue engineering, nanotechnology, high-throughput screening, and physiology. Chapters on physiology cover techniques that include optical coherence tomography, patch clamping, and photostimulation of caged neurotransmitters. 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, Auditory and Vestibular Research: Methods and Protocols, Second Edition aims to ensure successful results in the further study of this vital field.

This important book proposes revising the current informed consent protocol for predictive genetic testing to reflect the trend toward patient-centered medicine. Emphasizing the predictive aspect of testing, the author analyzes the state of informed consent procedure in terms of three components: comprehension of risk assessment, disclosure to select appropriate treatment, and voluntariness. The book's revised model revisits these cornerstones, restructuring the consent process to allow for expanded comprehension time, enhanced patient safety, greater patient involvement and autonomy, and reduced chance of coercion by family or others. A comparison of the current and revised versions and case studies showing the new model in real-world applications add extra usefulness to this resource. Included in the coverage: The science behind PGT. Understanding genetic risks and probability. The history of informed consent. Revised model of informed consent: comprehension, disclosure, voluntariness, patient safety. Applications of the model in DTC and pleiotropic genetic testing. Implementation of the revised model, and assessing its effectiveness. A milestone in the bioethics literature, Informed Consent in Predictive Genetic Testing will be of considerable interest to genetic counselors, medical and bioethicists, and public health professionals.

The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. It covers both basic and up-to-date material on normal and defective chromosomes, and this new edition is particularly enhanced by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects.

Despite the many milestones in cystic fibrosis (CF) research, progress toward curing the disease has been slow, and it is increasingly difficult to grasp and use the already wide and still growing range of diverse methods currently employed to study CF so as to understand it in its multidisciplinary nature. Cystic Fibrosis: Diagnosis and Protocols aims to provide the CF research community and related researchers with a very wide range of high-quality experimental tools, as an easy way to grasp and use classical and novel methods applied to cystic fibrosis. Volume II: Methods and Resources to Understand Cystic Fibrosis focuses on pathophysiology, Omics approaches, and a variety of key resources recently made available for CF research. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Comprehensive and practical, Cystic Fibrosis: Diagnosis and Protocols will provide readers with optimal working tools to address pressing questions in the best technical way, while helping all of us, as a research and clinical community, to move faster hand-in-hand toward unravelling the secrets of this challenging disorder and cure it.

The primary purpose of this volume is to demonstrate the range of applications of the Pyrosequencing technology in research and diagnostics and to provide detailed protocols. Beginning with an up-to-date overview of the biochemistry, the volume continues with quantitative analysis of genetic variation, ratio of expressed alleles at the RNA level, analysis of DNA methylation, global DNA methylation assays, specialized applications for DNA methylation analysis including loss of imprinting, single blastocyst analysis, allele-specific DNA methylation patterns, DNA methylation patterns associated with specific histone modifications. The volume further details tools and protocols for the detection of viruses and bacteria, and genetic and epigenetic analyses for forensics using Pyrosequencing. As a volume in the highly successful Methods in Molecular Biology series, chapters contain 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 adaptable, Pyrosequencing: Methods and Protocols, Second Edition will greatly aid doctorial students, postdoctoral investigators and research scientists studying different aspects of genetics and cellular and molecular biology.

This volume focuses on apoptotic and non-apoptotic programmed cell death, including necroptosis, pyroptosis, and ferroptosis, and presents recent findings in the field. It discusses the crucial role that apoptotic and non-apoptotic cell death play in various pathological conditions, such as skin diseases, inflammatory bowel diseases, and virus infections. Further, it highlights the mechanisms underlying the recognition and clearance of dead cells, and the subsequent biological responses triggered by phagocytosed macrophages and factors released from dying cells. Offering insights into cell death, it is a valuable resource for researchers and clinicians developing novel strategies to treat various diseases that are closely associated with cell death.

This title develops from the 24th Stadler symposium. It explores the general theme "GENOME EXPLOITATION: Data Mining the Genomes." The idea behind the theme is to discuss and illustrate how scientists are going to characterize and make use of the massive amount of information being accumulated about plant and animal genomes. The book presents a state-of-the-art picture on mining the Genome databases. Its chapters are authored by key stars in the field.

High-throughput measurements of gene expression and genetic marker data facilitate systems biologic and systems genetic data analysis strategies. Gene co-expression networks have been used to study a variety of biological systems, bridging the gap from individual genes to biologically or clinically important emergent phenotypes.