The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners. Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging. A rare hands-on guide to the subject, Genetic Counseling for Adult Neurogenetic Disease deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying videos depict representative issues and challenges in genetic counseling for specific diseases in addition to the basics of a neurological examination. Among the conditions discussed: Movement disorders, including Parkinson's disease. Dementias, including Alzheimer's disease. Stroke. Motor neuron diseases. Neuropathies and channelopathies. Adult muscular dystrophies. Neurocutaneous syndromes. Plus a section on neurological and neuropsychological evaluation. This is information that will stay relevant as technologies change and genetic understanding evolves. Genetic Counseling for Adult Neurogenetic Disease offers advanced clinical wisdom for genetic counselors as well as neurologists, neuropsychologists, and other referring clinicians.

This volume is a collection of miRNA detection and target identification protocols, detailing new developments in the traditional detection approaches such as northern blot, quantitative real-time PCR, array, next generation sequencing, and in situ hybridization. The chapters in MicroRNA Detection and Target Identification: Methods and Protocols guide readers through novel approaches such as nanotechnology, microfluidics, based detection methods, analysis of serum and urinary, miRNAs as biomarkers, target identification and experimental approaches. 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, MicroRNA Detection and Target Identification: Methods and Protocols aims to ensure successful results in the further study of this vital field.

New developments in science and technology have resulted in shifting ethical challenges in many areas including in genomics research. This book enables those who are involved in genomics research, whether as researcher, participant or policy maker, to understand the ethical issues currently developing in this field and to participate actively in these important debates. A clear account is given of how science and technology are outstripping the capacity of previous ethical regulations to cope with current issues, together with practical illustrations of possible ways forward. Key ethical ideas are presented, drawing on the history of research regulation and on an account of the particular challenges arising in the field of genomics. The book uses a grounded, practical approach to explaining ethical concepts and issues which is geared to enhancing interdisciplinary dialogue. Its broad approach to ethical issues includes relevant considerations from social psychology and there is a particular emphasis on understanding the problems of ethical regulations and practice in the institutional and social context of research. A glossary and numerous text boxes explaining relevant terms and key ideas help to make the work an invaluable resource for both beginners and experts in the field.

Ribonucleic acid (RNA) binding proteins currently number in the thousands and defects in their function are at the heart of diseases such as cancer and neurodegeneration. RNA binding proteins have become implicated in the intricate control of surprisingly diverse biological settings, such as circadian rhythm, stem cell self-renewal, oncogenesis and germ cell development. This book surveys a range of genome-wide and systems approaches to studying RNA binding proteins, the importance of RNA binding proteins in development, cancer and circadian rhythm.

This book examines the toxicological and health implications of environmental epigenetics and provides knowledge through an interdisciplinary approach. Included in this volume are chapters outlining various environmental risk factors such as phthalates and dietary components, life states such as pregnancy and ageing, hormonal and metabolic considerations and specific disease risks such as cancer cardiovascular diseases and other non-communicable diseases. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses.

Microbial relationships with all life forms can be as free living, symbiotic or pathogenic. Human beings harbor 10 times more microbial cells than their own. Bacteria are found on the skin surface, in the gut and other body parts. Bacteria causing diseases are the most worrisome. Most of the infectious diseases are caused by bacterial pathogens with an ability to form biofilm. Bacteria within the biofilm are up to 1000 times more resistant to antibiotics. This has taken a more serious turn with the evolution of multiple drug resistant bacteria. Health Departments are making efforts to reduce high mortality and morbidity in man caused by them. Bacterial Quorum sensing (QS), a cell density dependent phenomenon is responsible for a wide range of expressions such as pathogenesis, biofilm formation, competence, sporulation, nitrogen fixation, etc. Majority of these organisms that are important for medical, agriculture, aquaculture, water treatment and remediation, archaeological departments are: Aeromonas, Acinetobacter, Bacillus, Clostridia, Enterococcus, Pseudomonas, Vibrio and Yersinia spp. Biosensors and models have been developed to detect QS systems. Strategies for inhibiting QS system through natural and synthetic compounds have been presented here. The biotechnological applications of QS inhibitors (QSIs) in diverse areas have also been dealt with. Although QSIs do not affect growth and are less likely to impose selective pressure on bacteria, however, a few reports have raised doubts on the fate of QSIs. This book addresses a few questions. Will bacteria develop mechanisms to evade QSIs? Are we watching yet another defeat at the hands of bacteria? Or will we be acting intelligently and survive the onslaughts of this Never Ending battle?

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.

This book identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluations of treatments. The book is aimed at all students of bone biology and genetics, and with this in mind, it includes general introductory chapters on genetics and bone biology and more specific disease-orientated chapters, which comprehensively summarize the clinical, genetic, molecular genetic, animal model, functional and molecular pathology, diagnostic, counselling and treatment aspects of each disorder.
Saves academic, medical, and pharma researchers time in quickly accessing the very latest details on a broad range of genetic bone issues, as opposed to searching through thousands of journal articles.

Provides a common language for bone biologists and geneticists to discuss the development of bone cells and genetics and their interactions in the development of disease Researchers in all areas bone biology and genetics will gain insight into how clinical observations and practices can feed back into the research cycle and will, therefore, be able to develop more targeted genomic and proteomic assays

For those clinical researchers who are also MDs, correct diagnosis (and therefore correct treatment) of bone diseases depends on a strong understanding of the molecular basis for the disease.

This book offers comprehensive information on the polymorphisms of genes encoding pattern recognition receptors (PRRs). Following a short description of the general role of PRRs in the immune system, the structure and function of Toll-like and NOD-like receptors are examined in detail. The main focus is on the role of inherited variation in PRRs and their correlation to cancer and cardiovascular diseases. A review of all epidemiological investigations is included, and a concept of genomic risk markers for the prevention of various diseases is also discussed.

This volume is a compilation of sixteen chapters that detail reverse genetics protocols. Reverse Genetics of RNA Viruses: Methods and Protocols guides readers through comprehensive protocols on RNA viruses, that were the most challenging to obtain and/or that were developed most recently. 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, Reverse Genetics of RNA Viruses: Methods and Protocols aims to ensure successful results in the further study of this vital field.

This special volume of Progress in Molecular Biology and Translational Science focuses on the genetics of stem cells.

Key features:

* Contributions from leading authorities * Informs and updates on all the latest developments in the field

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.

The work described in this book is an excellent example of interdisciplinary research in systems biology. It shows how concepts and approaches from the field of physics can be efficiently used to answer biological questions and reports on a novel methodology involving creative computer-based analyses of high-throughput biological data. Many of the findings described in the book, which are the result of collaborations between the author (a theoretical scientist) and experimental biologists and between different laboratories, have been published in high-quality peer-reviewed journals such as Molecular Cell and Nature. However, while those publications address different aspects of post-transcriptional gene regulation, this book provides readers with a complete, coherent and logical view of the research project as a whole. The introduction presents post-transcriptional gene regulation from a distinct angle, highlighting aspects of information theory and evolution and laying the groundwork for the questions addressed in the subsequent chapters, which concern the regulation of the transcriptome as the primary functional carrier of active genetic information.

A Two Ribosome Model for Attenuation (G.W. Hatfield). Regulation of Ribosomal Proteins mRNA Translation in Bacteria (C. Portier, M. GrunbergManago). How Elongation Factors Steer the Ribosomal Elongation Cycle (K.H. Nierhaus, F. Triana). Genetics of Translation Initiation Factors in Saccharomyces cerevisiae (L. Feng, T.F. Donahue). Regulation of GCN4 Expression in Yeast (A.G. Hinnebusch et al.). Co and PostTranslational Processes and Mitochondrial Import of Yeast Cytochrome c (F. Sherman et al.). EIF4E Phosphorylation and the Regulation of Protein Synthesis (R.M. Frederickson, N. Sonenberg). InterferonInduced and DoubleStranded RNAActivated Proteins (A.G. Hovanessian). Translational Regulation by Vaccinia Virus (R. Bablanian). Translational Control by AdenovirusAssociated RNA I (B. Thimmapaya et al.). Translational Regulation in Adenovirus Infected Cells (R.J. Schneider, Y. Zhang). 12 additional articles. Index.

Written by research experts, this volume of "Progress in Molecular Biology and Translational Science "focuses on current science surrounding the mechanisms of DNA repair.

Key features:

* Contributions from leading authorities * Informs and updates on all the latest developments in the field

Management of the Patient at High Risk for Breast Cancer provides a state-of-the art review of patients who are at high risk for breast cancer, how to identify them, the tools available for risk assessment and quantification and indications for genetic counseling and testing. The book summarizes the high risk breast imaging options, including newest techniques and schedules. Pathologic evaluation of high risk lesions are featured as well as the management issues surrounding these lesions. The volume also covers the management of concomitant cancer risk and screening strategies. A concise, yet comprehensive overview of the current status of the topic, Management of the Patient at High Risk for Breast Cancer serves as a useful resource for physicians and researchers dealing with and interested in patients at high risk for breast cancer.

Microsatellites or simple sequence repeats (SSRs) have become the markers of choice for a variety of molecular studies because of their versatility, operational flexibility, and lower cost than other marker systems. Microsatellites: Methods and Protocols brings together experts in the field to cover this significant area of research. Broken in to four convenient parts, this volume delves into classical and modern methods for the discovery and development of microsatellite markers, descriptions of amplification and visualization of SSRs, automated capillary sequencers that are widely used for fragment analysis, as well as a variety of methods for the analysis of data obtained by the use of microsatellites. Written for the highly successful Methods in Molecular Biology (TM) 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 invaluable, Microsatellites: Methods and Protocols aims at researchers that need detailed protocols for incorporating microsatellite markers into their projects and expert scientists looking to expand their knowledge of SSRs discovery, use, and analysis.

"Omics for Personalized Medicine" will give to its prospective readers the insight of both the current developments and the future potential of personalized medicine. The book brings into light how the pharmacogenomics and omics technologies are bringing a revolution in transforming the medicine and the health care sector for the better. Students of biomedical research and medicine along with medical professionals will benefit tremendously from the book by gaining from the diverse fields of knowledge of new age personalized medicine presented in the highly detailed chapters of the book. The book chapters are divided into two sections for convenient reading with the first section covering the general aspects of pharmaocogenomic technology that includes latest research and development in omics technologies. The first section also highlights the role of omics in modern clinical trials and even discusses the ethical consideration in pharmocogenomics. The second section is focusing on the development of personalized medicine in several areas of human health. The topics covered range from metabolic and neurological disorders to non-communicable as well as infectious diseases, and even explores the role of pharmacogenomics in cell therapy and transplantation technology. Thirty-four chapters of the book cover several aspects of pharmacogenomics and personalized medicine and have taken into consideration the varied interest of the readers from different fields of biomedical research and medicine. Advent of pharmacogenomics is the future of modern medicine, which has resulted from culmination of decades of research and now is showing the way forward. The book is an honest endeavour of researchers from all over the world to disseminate the latest knowledge and knowhow in personalized medicine to the community health researchers in particular and the educated public in general.

In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor s office, in the courtroom and even in social relationships. In this helpful guidebook, one ofthe most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the integration of extensive references, this book provides students and professionals alike with the most in-depth view of the current state of the science and its relevance across disciplines.
Bridges the gap between basic human genetic understanding and one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. Includes the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more Explores ethical, legal, regulatory and economic aspects of genomics in medicine. Integrates historical (classical) genetics approach with the latest discoveries in structural and functional genomics"

This volume provides a clear and detailed roadmap of how to design and execute a gene therapy experiment in order to obtain consistent results. Chapters in this book disseminate bits of unknown information that are important to consider during the course of experimentation and will answer questions such as: What delivery vehicle do you use?; How will you ensure that your vector retains stability?; What expression system best fits your needs?; What route will you choose to deliver your gene therapy agent?; How will you model the neurodegenerative disorder that you aim to investigate and what are the proven methods to treat these disorders in preclinical models? 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 thorough, Gene Therapy for Neurological Disorders: Methods and Protocols, is a compilation of protocols and instructive chapters intended to give researchers, clinicians, and students of all levels, a foundation upon which future gene therapy experiments can be designed.

"Our Genes, Our Choices: How Genotype and Gene Interactions Affect Behavior" explains how the complexity of human behavior, including concepts of free will, derives from a relatively small number of genes, which direct neurodevelopmental sequence. Are people free to make choices, or do genes determine behavior? Paradoxically, the answer to both questions is "yes," because of neurogenetic individuality, a new theory with profound implications.

Author David Goldman uses judicial, political, medical, and ethical examples to illustrate that this lifelong process is guided by individual genotype, molecular and physiologic principles, as well as by randomness and environmental exposures, a combination of factors that we choose and do not choose.

Written in an authoritative yet accessible style, the book includes practical descriptions of the function of DNA, discusses the scientific and historical bases of genethics, and introduces topics of epigenetics and the predictive power of behavioral genetics.
Poses and resolves challenges to moral responsibility raised by modern genetics and neuroscienceAnalyzes the neurogenetic origins of human behavior and free will Written by one of the world's most influential neurogeneticists, founder of the Laboratory of Neurogenetics at the National Institutes of Health

This volume of Methods in Enzymology looks at Gene Transfer Vectors for Clinical Application. The chapters providean invaluable resource for academics, researchers and students alike. With an international board of authors, this volume covers such topics as General principles of retrovirus vector design, Chronic granulomatous disease (CGD), Gene therapy for blindness, and Retrovirus genetic strategy and vector design.
Chapters provide an invaluable resource for academics, researchers and students alikeInternational board of authorsThis volume covers such topics as general principles of retrovirus vector design, chronic granulomatous disease (CGD), gene therapy for blindness, and retrovirus genetic strategy and vector design"

This new volume in the "Current topics in Developmental Biology" series concentrates on MicroRNAs in Development. It includes chapters on such topics as miRNA networks in neuronal development, let-7 in development, and Hox networks and miRNA. With an international team of authors, this volume is a must-have addition for researchers and students alike.
Concentrates on microRNAs in development Includes chapters on such topics as miRNA networks in neuronal development, let-7 in development, and Hox networks and miRNA With an international team of authors, this volume is a must-have addition for researchers and students alike"

The rapid progression of genetics and molecular biology has turned chromosomal engineering from science fiction to reality, with the successful production of transgenic animals with engineered chromosomes and chromosomes developed for pharmaceutical protein production which are now ready for the medical industry. Mammalian Chromosome Engineering: Methods and Protocols provides the reader with up-to date information on this rapidly evolving field and strives to take the reader into the exciting realm of chromosomal engineering from the basic principles to the practical applications of these new technologies. The five overview and ten protocol chapters cover the engineering of chromosomes with extrachromosomal vectors and transposon systems, the manipulation of naturally occurred minichromosomes, the generation and engineering of synthetic artificial chromosomes, and the induced de novo platform artificial chromosome system. Written in the highly successful Methods in Molecular Biology (TM) series format, protocols chapters contain 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, Mammalian Chromosome Engineering: Methods and Protocols serves as a bench-side resource for current protocols and aims to help scientists to explore the many prospects for future research and vital applications.