"Handbook of Pharmacogenomics and Stratified Medicine" is a comprehensive resource to understand this rapidly advancing field aiming to deliver the right drug at the right dose to the right patient at the right time. It is designed to provide a detailed, but accessible review of the entire field from basic principles to applications in various diseases. The chapters are written by international experts to allow readers from a wide variety of backgrounds, clinical and non-clinical (basic geneticists, pharmacologists, clinicians, trialists, industry personnel, ethicists) to understand the principles underpinning the progress in this area, the successes, failures and the challenges ahead. Tobe accessibleto the widest range of readers, the clinical application section introduces the disease process, existing therapies, followed by pharmacogenomics and stratified medicine details.

Medicine isthe cornerstone of modern therapeutics prescribed on the basis that its benefit should outweigh its risk. It is well known that people respond differently to medications and in many cases the risk-benefit ratio for a particular drug may be a gray area. The last decade has seen a revolution in genomics both in terms of technological innovation and discovering genetic markers associated with disease. In parallel there has been steady progress in trying to make medicines safer and tailored to the individual. This has occurred across the whole spectrum of medicine, some more than others. In addition there is burgeoning interest from the pharmaceutical industry to leverage pharmacogenomics for more effective and efficient clinical drug development.
Provides clinical and non-clinical researchers with practical information normally beyond their usual areas of research or expertiseIncludes an basic principles section explaining concepts of basic genetics, genetic epidemiology, bioinformatics, pharmacokinetics and pharmacodynamicsCovers newer technologies- next generation sequencing, proteomics, metabolomicsProvides information on animal models, lymphoblastoid cell lines, stem cells Provides detailed chapters on a wide range of disease conditions, implementation and regulatory issuesIncludes chapters on the global implications of pharmacogenomics"

"Neural Crest Cells: Evolution, Development and Disease" summarizes discoveries of historical significance and provides in-depth, current analyses of the evolution of neural crest cells, their contribution to embryo development, and their roles in disease. In addition, prospects for tissue engineering, repair and regeneration are covered, offering a timely synthesis of the current knowledge in neural crest cell research. A comprehensive resource on neural crest cells for researchers studying cell biology, developmental biology, stem cells and neurobiology, "Neural Crest Cells: Evolution, Development and Disease "provides foundational information needed for students, practicing physicians and dentists treating patients with craniofacial defects.
Provides timely, comprehensive synthesis of the current knowledge of neural crest cellsCovers the evolution and development of neural crest cellsIncludes content on applications for tissue engineering, repair and regeneration

Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and appropriate treatment. The book examines recent advances in understanding and treating short stature in Noonan Syndrome, along with the latest progress in growth hormone-dependent signaling pathways involved in short stature, one of the most frequent clinical manifestations. Chapters also address how patients with Noonan Syndrome undergo more than average surgical procedures and have a great bleeding risk. This must have reference for pediatric endocrinologists and practicing physicians will give them all the information they need on the topic.

Pharmacoepigenetics provides a comprehensive volume on the role of epigenetics and epigenomics in drug discovery and development, providing a detailed, but accessible, view of the field, from basic principles, to applications in disease therapeutics. Leading international researchers from across academia, clinical settings and the pharmaceutical industry discuss the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, and treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development. Throughout the book, chapter authors offer a balanced and objective discussion of the future of pharmacoepigenetics and its crucial contribution to the growth of precision and personalized medicine.

Chromatin Regulation and Dynamics integrates knowledge on the dynamic regulation of primary chromatin fiber with the 3D nuclear architecture, then connects related processes to circadian regulation of cellular metabolic states, representing a paradigm of adaptation to environmental changes. The final chapters discuss the many ways chromatin dynamics can synergize to fundamentally contribute to the development of complex diseases. Chromatin dynamics, which is strategically positioned at the gene-environment interface, is at the core of disease development. As such, Chromatin Regulation and Dynamics, part of the Translational Epigenetics series, facilitates the flow of information between research areas such as chromatin regulation, developmental biology, and epidemiology by focusing on recent findings of the fast-moving field of chromatin regulation.

Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down. In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases. Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area. New fully illustrated topics in the revised fifth edition of the atlas include: An overview of disorders resulting from structural changes of the genome (genomic disorders) Abnormal imprinting patterns Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others) The CRISPR-Cas system Genetic features of the aging processes Disorders due to rearrangements of chromatin in the cell nucleus, and others With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.

Every species has to preserve the integrity of its genome to ensure faithful passage of genetic information to the progeny. At the same time, there are times during the life of the organism and population in general when a fine balance in genome stability and diversification has to be made to benefit the survival of the species. Genome Stability teaches the reader how various species maintain this fine balance in genome stability and genome diversification in response to their environments. Genome Stability covers a wide range of topics, including the genome stability of DNA/RNA viruses, prokaryotes, single cell eukaryotes, lower multicellular eukaryotes and mammals. Topics also include major DNA repair mechanisms, the role of chromatin in genome stability, human diseases associated with genome instability as well as changes in genome stability in response to aging. Finally, Genome Stability covers how epigenetic factors contribute to genome stability and how the species pass the memory of the encounters to the progeny, thus influencing the genome of the progeny in an indirect manner. This volume is an essential resource for geneticists, epigeneticists, and molecular biologists who are looking to gain a deeper understanding of this rapidly-expanding field, and can also be of great use to advanced students who are looking to gain additional expertise in genome stability.

Based on their extensive experience of clinical work, the authors emphasize the practical issues related to the healthcare of individuals and families. Genetics for the Health Sciences takes an holistic approach, from preconception to adulthood, and addresses the false notion that clinical genetics is of relevance only to those who are planning a family. The book enables nurses, midwives, genetic counselors and doctors to apply the general principles of genetics in their routine clinical practice. As well as discussing the basic principles, Genetics for the Health Sciences also describes the latest technologies and shows how these can be applied to clinical practice. This is an essential text which helps all those in clinical healthcare understand the genetics they need in their professional roles. It is also an ideal coursebook for students in the healthcare professions seeking an understanding of core genetic principles and how these are applied in practice. Reviews: 'The text is a compact, concise presentation of the basic concepts in genetics science and the impact of genetics across the lifespan. The organization of the text increases its usefulness to clinicians as each specialty area could easily locate the information most pertinent to their work...The text is well illustrated throughout, again providing summarized information that is easily accessed. An especially helpful feature of this text is the presence of multiple case studies in each chapter, making this text particularly useful for teaching. I think faculty teaching students in advanced practice nursing programs and allied health courses would find this text a succinct addition to their course. However, I could also see this text being useful in RN preparation curriculum. It could easily be a text that would carry over for several specialty areas and provide additional material specific to genetics in each area. Genetics for Health Sciences: A Handbook for Clinical Healthcare is a welcome addition to the rather sparse choices available for presenting genetics content in clinical practice curriculum. Rebekah Hamilton, ISONG, June 2010 'Tremendous progress in recent years has shaped the field of medical genetics, which continues to expand to involve almost every aspect of human health. Hence, it is necessary for every healthcare professional to acquire a basic understanding of this science. This is clearly the objective of this well-edited and structured book by Skirton and Patch in its second updated edition. The authors' considerable experience in genetics, through direct clinical practice in addition to organisational and academic roles, can be appreciated in the practical aspect of their writing. The book starts with useful definitions and alerts the reader to the wide applicability of genetics through clinical cases, raising questions that are answered and discussed when relevant in later chapters. Important aspects of genetic counselling, from basic skills such as risk estimation using family trees to more complex ones related to effective ethical communication with the clients in the light of their needs and the different models of counselling, are then discussed in two chapters. However, given their intrinsic function in medical genetics, these issues are also efficiently tackled in the clinical cases outlined in each chapter. The authors then describe important scientific concepts and techniques that are necessary for a good clinical understanding of genetics. Although this section may seem short, the additional resources provided at the end are very useful. Likewise, for all topics covered in the book, the updated links provided serve as a handy catalogue for the health professional seeking extra information. Next, the concepts and techniques described in the first part of the book are applied directly to common genetic conditions and issues faced by different age groups, from prenatal care to older adulthood in separate chapters. This organisation puts into perspective the importance of genetics in different medical specialities and settings. This book, with its concise yet comprehensive explanation of a complex rapidly growing field, should prove to be a valuable resource for a diverse audience of health professionals, including midwives, nurses and physicians, who confront genetic issues during their daily practice without being specialists in medical genetics.' Nadine Taleb, Journal of Medical Genetics 'When first asked to write this book review I thought to myself how it would be important to give a rounded report on both the book's strengths and weaknesses. After reading the book, however, I realised that it is difficult to find weaknesses. The authors, Heather Skirton and Christine Patch, between them have over 30 years of experience in clinical genetics. Their experience of explaining genetics in their professional roles shines through in the way they have written the book. They make complex genetic principles interesting and understandable. The book does not baffle or patronise. The book is easily navigated. It is broken down into clear chapters that are ordered in a pleasingly logical way. The first chapter 'sets the scene' by introducing the reader to important concepts related to genetic health care including issues such as ethical practice, the different forms of genetic testing and the impact of genetic conditions on families. The next chapters then discuss the family tree, counselling issues, genetic science and public health genetics. The remaining chapters then explore the core topics relating to particular life stages from preconception to older adulthood. It engages the reader from the start when it introduces seven 'core' families that reappear throughout the book to highlight a number of key issues. The text is peppered with clear illustrations, useful step by step guides, practical checklists, and test yourself sections making the book lively and dynamic. The test yourself sections make the book student friendly and would also make good teaching aids to lecturers and tutors. At the start of the book there is a list of helpful websites and at the end of each chapter there is a list of resources for those who wish to extend their knowledge. One of the main strengths of this book is its refreshingly practical approach. All too often books can be written in a way in which it is difficult for the reader to transfer the knowledge that they have gained into their day-to-day practice. The introduction states that 'the aim of this book is to enable those in healthcare to update their knowledge on topics related to genetics and genomics that have an impact in their daily work and apply it usefully in patient care'. Given the fact that genetics has increasingly become a core component in a number of specialties, one would think that meeting this aim for all would be a tall order. This book however eloquently does so using case examples and key practice points boxes throughout to demonstrate the clinical application of the topic under discussion. Another of the book's main strengths is the way in which it promotes individualised care by enabling the reader to consider the impact of genetic conditions from the patients' point of view. Genetics for the Health Sciences brings genetics into common healthcare settings. It is highly recommended as an essential text for health care professionals in roles across all specialties. It is also recommended to students, lecturers, social scientists; to anyone who has an interest in genetics and wishes to extend their knowledge. It is a joy to read and could be read from cover to cover.' Helen Thistlewood, Medical Genetics 'Genetics is at the forefront of medicine and nurses are expected to have a basic understanding of the subject. This handbook is well written and the authors do a good job of making this complex topic understandable. The book lists prenatal, childhood and adult genetic conditions that may involve testing and counselling. Genetic services, types of genetic testing and the impact of genetic conditions on families are discussed in depth, and case studies highlight the emotional and psychological needs of patients and their families. Guidelines for drawing family trees and practical examples of risk assessment are well explained. The perspective of the patient regarding risk and lay knowledge is also considered... All departments should have a copy of this book on their shelves.' Audrey Ardern-Jones, Nursing Standard

Among the offspring of humans and other animals are occasional individuals that are malformed in whole or in part. The most grossly abnormal of these have been referred to from ancient times as monsters, because their birth was thought to foretell doom; the less severely affected are usually known as anomalies. This volume digs deeply into the cellular and molecular processes of embryonic development that go awry in such exceptional situations. It focuses on the physical mechanisms of how genes instruct cells to build anatomy, as well as the underlying forces of evolution that shaped these mechanisms over eons of geologic time. The narrative is framed in a historical perspective that should help students trying to make sense of these complex subjects. Each chapter is written in the style of a Sherlock Holmes story, starting with the clues and ending with a solution to the mystery.

This issue of Clinics in Laboratory Medicine, Guest Edited by Caroline Astbury, PhD, FACMG, will focus on Cytogenetics, with topics including: Chronic lymphocytic leukemia; Acute lymphocytic leukemia; Acute myelogenous leukemia; Chronic myelogenous leukemia; Plasma cell myeloma; Lymphomas; Solid tumors; Myelodysplastic syndromes; SNP arrays in clinical practice; Prenatal arrays; FISH (including Paraffin-embedded (PET) FISH); New and old microdeletion and microduplication syndromes; Sex chromosome and sex chromosome abnormalities; Autosomal aneuploidy; Microarray-CGH interpretation and Genomic Integrity; Structural chromosome rearrangements and complex chromosome rearrangements; and UPD/imprinting.

How does the genome, interacting with the multi-faceted environment, translate into the development by which the human brain achieves its astonishing, adaptive array of cognitive and behavioral capacities? Why and how does this process sometimes lead to neurodevelopmental disorders with a major, lifelong personal and social impact?

This volume of "Progress in Brain Research" links findings on the structural development of the human brain, the expression of genes in behavioral and cognitive phenotypes, environmental effects on brain development, and developmental processes in perception, action, attention, cognitive control, social cognition, and language, in an attempt to answer these questions.
Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future researchChapters are extensively referenced to provide readers with a comprehensive list of resources on the topics coveredAll chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Discovered little more than a decade ago, optogenetics - a revolutionary technique combining genetic and optical methods to observe and control the function of neurons - is now a widely used research tool. Optogenetics-driven research has led to insights into Parkinson's disease and other neurological and psychiatric disorders. With contributions from leaders and innovators from both academia and industry, this volume explores the discovery and application of optogenetics, from the basic science to its potential clinical use. Chapters cover a range of optogenetics applications, including for brain circuits, plasticity, memory, learning, sleep, vision and neurodegenerative and neuropsychiatric diseases. Providing authoritative coverage of the huge potential that optogenetics research carries, this is an ideal resource for researchers and graduate students, as well as for those working in the biotechnology and pharmaceutical industries and in a clinical setting.