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.

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.

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.

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 volume examines behavioral genetic research on temperament and personality from a number of perspectives. It takes a developmental perspective on a number of issues across the lifespan, focusing on personality and temperament. The first section focuses on the development of temperament and personality. Typically this has involved exploring genetic and environmental contributions to phenotypic stability and instability, but more recently there has been research that examines the etiology of intra-individual change/growth trajectories. The second section examines genetic and environmental contributions to the association between temperament and personality and other behaviors. The third and fourth sections discuss genotype-environment correlations and interactions, and introduces the reader to molecular genetics research on temperament and personality. Chapter 11 will discuss the significance of this type of research and Chapter 12 will provide an example of specific line of research exploring genes associated with temperament.

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.

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.

System Biology encompasses the knowledge from diverse fields such as Molecular Biology, Immunology, Genetics, Computational Biology, Mathematical Biology, etc. not only to address key questions that are not answerable by individual fields alone, but also to help in our understanding of the complexities of biological systems. Whole genome expression studies have provided us the means of studying the expression of thousands of genes under a particular condition and this technique had been widely used to find out the role of key macromolecules that are involved in biological signaling pathways. However, making sense of the underlying complexity is only possible if we interconnect various signaling pathways into human and computer readable network maps. These maps can then be used to classify and study individual components involved in a particular phenomenon. Apart from transcriptomics, several individual gene studies have resulted in adding to our knowledge of key components that are involved in a signaling pathway. It therefore becomes imperative to take into account of these studies also, while constructing our network maps to highlight the interconnectedness of the entire signaling pathways and the role of that particular individual protein in the pathway. This collection of articles will contain a collection of pioneering work done by scientists working in regulatory signaling networks and the use of large scale gene expression and omics data. The distinctive features of this book would be: Act a single source of information to understand the various components of different signaling network (roadmap of biochemical pathways, the nature of a molecule of interest in a particular pathway, etc.), Serve as a platform to highlight the key findings in this highly volatile and evolving field, and Provide answers to various techniques both related to microarray and cell signaling to the readers.

Genomic and Precision Medicine: Foundations, Translation, and Implementation highlights the various points along the continuum from health to disease where genomic information is impacting clinical decision-making and leading to more personalization of health care. The book pinpoints the challenges, barriers, and solutions that have been, or are being, brought forward to enable translation of genome based technologies into health care. A variety of infrastructure (data systems and EMRs), policy (regulatory, reimbursement, privacy), and research (comparative effectiveness research, learning health system approaches) strategies are also discussed. Readers will find this volume to be an invaluable resource for the translational genomics and implementation science that is required to fully realize personalized health care.

This volume provides clear and direct protocols to implement automated Design-Build-Test-Learn (DBTL) into synthetic biology research. Chapters detail techniques to model and simulate biological systems, redesign biological systems, setting up of an automated biolaboratory, step-by-step guide on how to perform computer aided design, RNA sequencing, microfluidics -using bacterial cell free extracts, live mammalian cells, computational and experimental procedures, metabolic burden, computational techniques to predict such burden from models, and how DNA parts can be engineered in mammalian cells to sense, and respond to, and intracellular signals in general. 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, Synthetic Gene Circuits: Methods and Protocols aims to ensure successful results in the further study of this vital field.

Understanding the genetic architecture underlying complex multigene disorders is one of the major goals of human genetics in the upcoming decades. Advances in whole genome sequencing and the success of high throughput functional genomics allow supplementing conventional reductionist biology with systems-level approaches to human heredity and health as systems of interacting genetic, epigenetic, and environmental factors. This integrative approach holds the promise of unveiling yet unexplored levels of molecular organization and biological complexity. It may also hold the key to deciphering the multigene patterns of disease inheritance.

This volume focuses on the investigatory methods applied to autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases. ADPKD is caused by mutations in PKD1 and TRPP2, two integral membrane proteins that function as receptor/ion channels in primary cilia of tubular epithelial cells. Thus, ADPKD belongs to ciliopathies, a group of disorders caused by abnormal cilia formation or function. This proposed book will cover the state-of-the-art methods ranging from molecular biology, biochemistry, electrophysiology, to tools in model animal studies. Key Features Explores the role of cilia in polycystic kidney disease Focuses on myriad state-of-the-art methods and techniques Reviews specific mutations integral to this autosomal genetic disease Includes discussions of model systems

This is a comprehensive and up-to-date guide to the diagnosis, clinical features and management of inherited disorders conferring cancer susceptibility. It is fully updated with much molecular, screening and management information. It covers risk analysis and genetic counselling for individuals with a family history of cancer. It also discusses predictive testing and the organisation of the cancer genetics service. There is information about the genes causing Mendelian cancer predisposing conditions and their mechanism of action. It aims to provide such details in a practical format for geneticists and clinicians in all disciplines.

Cancer Disparities, the latest in the Advances in Cancer Research series, provides invaluable information on the exciting and fast-moving field of cancer research. This latest volume presents a broad introduction to a spectrum of factors contributing to cancer disparities that include ancestral informative markers' role in properly identifying race based on genetic ancestry, basic biological pathways contributing to cancer disparities, epidemiological factors linked to cancer disparities, and social/behavioral factors influencing cancer disparities.

An odd and unexpected finding was reported by the laboratory of Richard Jorgensen in 1990: expression of extra copies of the gene encoding chalone synthase in petunias turned off the endogenous chalone synthase gene. An observation that appeared totally unrelated was made by the laboratory of Victor Ambrose in 1993: a gene in Caenorhabditis elegans, lin-4, controlled the timing of larval development but did not encode a protein. Rather, it expressed two small RNAs that were complementary to the 3'-untranslated region of the lin-14 gene in a region that had previously been shown to repress expression of the LIN-14 protein. From another quarter, David Baulcombe's laboratory showed in 1997 that plant viruses could induce sequen- specific gene silencing. Then in a landmark paper, Andrew Fire and Craig Mello showed in 1998 that double-stranded RNA (dsRNA) triggers a gene-silencing mechanism that they dubbed RNA interference (RNAi), for which discovery they were awarded the Nobel Prize in Physiology or Medicine in 2006. These diverse findings have triggered an explosion of research around the world in both plants and animals to discover the mechanisms and broader ramifications of RNAi. We now know that there are both exogenous pathways involving formation of siRNA when dsRNA is introduced and endogenous pathways involving miRNA, piwiRNA, and rasiRNAs. All pathways culminate in formation of an RNA-induced silencing complex (RISC) containing a member of the Argonaute protein family bound to a 22-nt RNA strand that interacts with a target mRNA or gene through Watson-Crick base pairing.

This book provides a comprehensive view of metabolomics, from the basic concepts, through sample preparation and analytical methodologies, to data interpretation and applications in medicine. It is the first volume to cover metabolomics clinical applications while also emphasizing analytical and statistical features. Moreover, future trends and perspectives in clinical metabolomics are also presented. For researches already experienced in metabolomics, the book will be useful as an updated definitive reference. For beginners in the field and graduate students, the book will provide detailed information about concepts and experimental aspects in metabolomics, as well as examples and perspectives of applications of this strategy to clinical questions.

Proceedings of the 2nd World Conference Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology. The meeting took place at The Eden Roc Hotel in Miami Beach, Florida, 1/15/10 1/17-10. Endocrinology and more specifically, the area of sexual differentiation disorders is an evolving field of medicine. The diagnosis and treatment of Disorders of Sex Development (DSD) is multi-faceted.

Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a "normal" variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH).

Dynamic Treatment Regimes: Statistical Methods for Precision Medicine provides a comprehensive introduction to statistical methodology for the evaluation and discovery of dynamic treatment regimes from data. Researchers and graduate students in statistics, data science, and related quantitative disciplines with a background in probability and statistical inference and popular statistical modeling techniques will be prepared for further study of this rapidly evolving field. A dynamic treatment regime is a set of sequential decision rules, each corresponding to a key decision point in a disease or disorder process, where each rule takes as input patient information and returns the treatment option he or she should receive. Thus, a treatment regime formalizes how a clinician synthesizes patient information and selects treatments in practice. Treatment regimes are of obvious relevance to precision medicine, which involves tailoring treatment selection to patient characteristics in an evidence-based way. Of critical importance to precision medicine is estimation of an optimal treatment regime, one that, if used to select treatments for the patient population, would lead to the most beneficial outcome on average. Key methods for estimation of an optimal treatment regime from data are motivated and described in detail. A dedicated companion website presents full accounts of application of the methods using a comprehensive R package developed by the authors. The authors' website www.dtr-book.com includes updates, corrections, new papers, and links to useful websites.

The use of genetics for the resolution of legal conflicts has recently been gaining a higher profile, largely as a result of scientific and technological advancements and the substantial broadening of applications. The theoretical framework underlying forensic genetics is the same irrespective of the materials and technology involved, however a great divide still exists in the manner and processes related to human and non-human analyses.This advanced handbook intends to overcome the historical barriers between the scientific fields of legal medicine, biodiversity and conservation, and food analysis by presenting a unifying, global perspective on the implications of genetic analyses on forensic affairs. This global perspective is presented in three parts: modes of inheritance and reproduction and taxonomic implications; current technological approaches and future perspectives; and a comprehensive systematization of the types of applications and organisms. Finally, a critical revision of the current investigative/expert systems and future perspectives is undertaken.This book provides a collection of international research, thereby constituting a reference platform for the forensic community and an advanced textbook for graduate students. It encompasses the theoretical bases of the field, and presents in the context of both perspectives of forensic action - probative and investigative - a comprehensive coverage of the current applications and technological state of the art.