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.

Patient specific and disease specific stem cell lines have already introduced groundbreaking advances into the research and practice of ophthalmology. This volume provides a comprehensive and engaging overview of the latest innovations in the field. Twelve chapters discuss the fastest growing areas in ophthalmological stem cell research, from disease modelling, drug screening and gene targeting to clinical genetics and regenerative treatments. Innovative results from stem cell research of the past decade are pointing the way toward practicable treatments for retinitis pigmentosa, age related macular degeneration, and Stargardt disease. What future directions will stem cell research take? Researchers, graduate students, and fellows alike will find food for thought in this insightful guide tapping into the collective knowledge of leaders in the field. Stem Cells in Ophthalmology is part of the Stem Cells in Regenerative Medicine series dedicated to discussing current challenges and future directions in stem cell research.

This book presents a common principle of actions of long noncoding RNAs (lncRNAs) from points of view at the atomic, molecular and cellular levels. At the atomic level, chemical studies of ribonucleic acids explain the chemical behavior of lncRNAs. Structural biological analysis of lncRNAs and its binding proteins also reveal the precise mechanisms of their actions. Molecular biological approaches lead to insights into molecular mechanisms of these lncRNA actions. At the cellular or individual level of analysis, we grasp the biology and medicine of lncRNAs. These three layers of approaches are thoroughly new and produce novel insights into functions of lncRNAs in living cells. The book consists of five parts: 1) Bioinformatics and other methodologies for lncRNAs, 2) Atomic and molecular structures of lncRNAs, 3) Molecular functions of lncRNAs, 4) Biological actions of lncRNAs, and 5) Potential outcomes for clinical medicine. These sections connect well and work synergistically. The book is for researchers whose specialty is RNA biology and chemistry and also for advanced students at the graduate and undergraduate levels. Readers can grasp the leading edge of lncRNA studies in a comprehensive manner and are inspired to pursue their own particular interests.

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 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.

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.

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.

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.

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

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)

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.

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.

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.

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.

Gene therapy is emerging as a new class of therapeutics for the treatment of inherited and acquired diseases. However, poor cellular uptake and instability of DNA in the physiological milieu limits its therapeutic potential, hence a vector which can protect and efficiently transport DNA to the target cells must be developed. Nanotechnology-based non-viral vectors have been proposed as potential candidates. Various polymeric nanoparticles have been shown to be suitable, with high cellular uptake efficiencies and reduced cytotoxicity. These delivery vectors form condensed complexes with DNA which result in shielding against enzymatic degradation and enhanced cellular targeting. Advantages including easy manipulatibility, high stability, low cost and high payload, mean that nanoparticles from various polymers have been exploited. Gene therapy gives a systematic account of the many aspects of nanotechnology mediated gene therapy, from the preparation of nanoparticles to physicochemical characterization, and follows with applications in in vitro and in vivo models. This book emphasizes the various aspects of nanotechnology-based gene therapy, with initial chapters detailing the tools and techniques available for preparation and in vitro and in vivo characterization of nanoparticles. Later chapters provide exhaustive details on polymeric systems employed for gene therapy.
Provides an overview of nanotechnology applications in gene therapy, from preparation of nanoparticles to in vitro and in vivo studiesDetails the tools and techniques available for preparation, characterization and in vitro and in vivo study of nanoparticlesDetails the limitations of nanoparticle-mediated gene therapy and proposes ways in which they may be overcome

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.

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.

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).

Our understanding of the genetic and developmental mechanisms underlying scoliosis is rapidly evolving, this timely second edition of The Genetics and Development of Scoliosis is to provide researchers, clinicians, and students with the most current views in this field. This volume brings together leaders in understanding congenital and idiopathic scoliosis to present the current state of research, and to compare the genetic etiology of these conditions, in order to identify potential shared developmental mechanisms. This book will summarize the recent advances in studies of spinal development and how disruptions during embryogenesis in embryonic segmentation can lead to congenital vertebral defects. In addition, recent reports of genetic loci predisposing patients to develop juvenile and adolescent idiopathic scoliosis will be presented, and key clinical features are reviewed. Finally, there will be discussion of how genetic heterogeneity and gene-environment interactions may contribute to congenital scoliosis and isolated vertebral malformations.

The 3rd World Congress on Genetics, Geriatrics, and Neurodegenerative Disease Research (GeNeDis 2018), focuses on recent advances in genetics, geriatrics, and neurodegeneration, ranging from basic science to clinical and pharmaceutical developments. It also provides an international forum for the latest scientific discoveries, medical practices, and care initiatives. Advanced information technologies are discussed, including the basic research, implementation of medico-social policies, and the European and global issues in the funding of long-term care for elderly people.

Despite the best efforts of many and despite landmark discoveries and experimental ingenuity, challenges in the pursuit of research related to olfactory receptors (ORs) continue to exist. In Olfactory Receptors: Methods and Protocols, experts in the field contribute chapters that serve to address these challenges. The volume consists of several sections: knowledge dissemination of ORs, theoretical assessments of OR structure and function, as well as development and use of expression systems and experimental functional analysis. 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. Concise and practical, Olfactory Receptors: Methods and Protocols seeks to aid researchers in furthering the knowledge of olfaction and moving us ever closer to the thrilling discoveries that will follow.

The scope and significance of cytoplasmic inheritance has been the subject of one of the longest controversies in the history of genetics. In the first major book on the history of this subject, Jan Sapp analyses the persistent attempts of investigators of non-Mendelian inheritance to establish their claims, in the face of strong resistance from nucleo-centric geneticists and classical neo-Darwinians. A new perspective on the history of genetics is offered, as he explores the oppositions which have shaped theoretical thinking about heredity and evolution throughout the century: materialism/vitalism, reductionism/holism, preformation/epigenesis, neo-Darwinism/neo-Lamarckism, gradualism/saltationism.

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