For decades after the identification of the structure of DNA, scientists focused only on genes, the regions of the genome that contain codes for the production of proteins. Other regions that make up 98 percent of the human genome were dismissed as "junk," sequences that serve no purpose. But researchers have recently discovered variations and modulations in this junk DNA that are involved with a number of intractable diseases. Our increasing knowledge of junk DNA has led to innovative research and treatment approaches that may finally ameliorate some of these conditions. Junk DNA can play vital and unanticipated roles in the control of gene expression, from fine-tuning individual genes to switching off entire chromosomes. These functions have forced scientists to revisit the very meaning of the word "gene" and have engendered a spirited scientific battle over whether or not this genomic "nonsense" is the source of human biological complexity. Drawing on her experience with leading scientific investigators in Europe and North America, Nessa Carey provides a clear and compelling introduction to junk DNA and its critical involvement in phenomena as diverse as genetic diseases, viral infections, sex determination in mammals, and evolution. We are only now unlocking the secrets of junk DNA, and Nessa Carey's book is an essential resource for navigating the history and controversies of this fast-growing, hotly disputed field.

The genomic approach of technology development and large-scale generation of community resource data sets has introduced an important new dimension in biological and biomedical research. Interwoven advances in genetics, comparative genomics, high throughput biochemistry and bioinformatics are combining to attack basic understanding of human life and disease and to develop strategies to combat disease. Genomic Research began with The Human Genome Project (HGP), the international research effort that determined the DNA sequence of the entire human genome, completed in April 2003. The HGP also included efforts to characterize and sequence the entire genomes of several other organisms, many of which are used extensively in biological research. Identification of the sequence or function of genes in a model organism is an important approach to finding and elucidating the function of human genes. Integral to the HGP are similar efforts to understand the genomes of various organisms commonly used in biomedical research, such as mice, fruit flies and roundworms. Such organisms are called "model organisms," because they can often serve as research models for how the human organism behaves. This new book brings together leading research from throughout the world in this cutting-edge field.

Psychiatric Genomics presents and synthesizes available knowledge in the field of psychiatric genomics, offering methodologies to advance new research and aid clinical translation. After providing an introduction to genomics and psychiatry, international experts discuss the genomic basis of schizophrenia, bipolar disorder, depression, personality disorders, anxiety disorders, addictions, eating disorders, and sleep disorders, among other disorders. In addition, recommendations for next steps in clinical implementation and drug discovery are discussed in-depth, with chapters dedicated to pharmacogenomics and antipsychotics, antidepressants and mood stabilizers, adverse drug reactions, implementation of pharmacogenomics in psychiatric clinics, and ethical issues. Finally, methods sections provide a solid grounding in research approaches and computational analytics, from using animal models in psychiatric genomics and accessing biobanks, to employing computational analysis, genome-wide association studies (GWAS), brain pathophysiology, and endophenotypes in psychiatric research.

Written primarily for students embarking on an undergraduate bioscience degree, this primer will review the essential biological concepts that underpin any programme of more advanced study and give early-stage undergraduates the opportunity to review topics about which they may feel under-prepared or less confident. Genetic medicine has entered an era of rapid expansion. It is no longer just relevant to families affected by rare congenital disorders, but has the potential to affect the diagnosis and treatment of most common complex diseases. The successful application of new genetic science in the decades ahead will depend on the next generation of undergraduates or university applicants, who are now planning their careers as Biologists and Clinicians.This primer explores core concepts about heredity and genome analysis, illustrates current clinical practice with case-histories, and discusses the potentials and pitfalls of personalised medicine.

This book contains eight chapters. The first three focus on three different layered systems, namely, mercurocuprate, BSCCO and RE-123 and present exciting features like their unusual chemistry, vortex physics and novel characteristics of the multilayers formed with some of them. The remaining five chapters of the volume describe studies carried out on recently discovered magnesium diboride, which superconducts at 39K. New and interesting work has been presented which describes, noteworthy advances in their flux pinning and mechanical properties and also bring out their future potential as this films and SQUID devices.

Epigenetics is the most exciting field in biology today, developing our understanding of how and why we inherit certain traits, develop diseases and age, and evolve as a species. This non-fiction comic book introduces us to genetics, cell biology and the fascinating science of epigenetics, which is rapidly filling in the gaps in our knowledge, allowing us to make huge advances in medicine. We'll look at what identical twins can teach us about the epigenetic effects of our environment and experiences, why certain genes are 'switched on' or off at various stages of embryonic development, and how scientists have reversed the specialization of cells to clone frogs from a single gut cell. In Introducing Epigenetics, Cath Ennis and Oliver Pugh pull apart the double helix, examining how the epigenetic building blocks and messengers that interpret and edit our genes help to make us, well, us.

In recent years, knowledge of epigenetic mechanisms underlying disease onset and progression has proven crucial for the development of novel early diagnosis and prognosis biomarkers for patient stratification and precision medicine. Epigenetics in Precision Medicine, a new volume in the Translational Epigenetics series, provides a thorough discussion and overview of current developments in clinical epigenetics with special emphasis on epigenetic biomarkers that can be used for clinical diagnosis, prognosis, patient stratification, and treatment monitoring. Disease types discussed include cancer, metabolic disorders, neurodegenerative diseases, bone disease, and immune-related disorders. The book examines the challenges of advancing epigenetics research and translating findings to the clinic and drug discovery in each of these areas, as well as current solutions; chapter authors discuss how to leverage epigenomic technologies, applications, and tools, such as next-generation sequencing, to discover new epigenetic biomarkers in disease and drug studies. Epigenetics in Precision Medicine focuses on complex epigenetic mechanisms in several pathologies, and explores how epigenetics can power the advance of precision medicine, not only by improving in vitro diagnostic and prognostic tools, but by providing new therapeutic approaches to treat human disease.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies.

Epigenetics and Metabolomics, a new volume in the Translational Epigenetics series, offers a synthesized discussion of epigenetic control of metabolic activity, and systems-based approaches for better understanding these mechanisms. Over a dozen chapter authors provide an overview of epigenetics in translational medicine and metabolomics techniques, followed by analyses of epigenetic and metabolomic linkage mechanisms likely to result in effective identification of disease biomarkers, as well as new therapies targeting the removal of the inappropriate epigenetic alterations. Epigenetic interventions in cancer, brain damage, and neuroendocrine disease, among other disorders, are discussed in-depth, with an emphasis on exploring next steps for clinical translation and personalized healthcare.

In recent times, the boundary between living and non-living has been blurred by advances in genomics, cell biology, and molecular neuroscience, whereby humans are repaired, enhanced, or made anew. Scientists and physicians are now able to keep cells, organs, and bodies alive indefinitely and can return cells or DNA to our bodies and make new cells for the purpose of treating disease or growing new tissue. Meanwhile, transhuman technologies create illusions of immortality. Immortal: Our Cells, DNA, and Bodies synthesizes what we know about life and death from a genetic, molecular, and cellular perspective, demarcates limits of knowledge, and poses new questions. Award-winning researcher and writer David Goldman examines in-depth three keys to understanding the nature and continuity of life: 1) epigenetic (ephemeral) vs genetic (durable) transgenerational memory; 2) life's cellular nature, and the ability to make bodies from cells; and 3) the distinction between bodies and persons. Grounded in recent scientific evidence and real-life cases that test our historical understanding of life and death, Goldman probes the nature of molecular continuity in the face of mortal extinction, encompassing how changes to the DNA code can be both long-lasting and transgenerational, and the continuous nature of cellular and molecular information transmission. In tying these themes together, Immortal asks us to apply fresh scientific concepts to examine, for ourselves, the continuity of being in the face of mortality.

This work which was published to mark the tenth anniversary of the collaboration between the Institut Pasteur and the Riken Institute in Japan, covers a number of research fields in which both laboratories are active: precocious development in mice and the effect on them of disactivating genes, nuclear oncogenes and their role in controlling cell division, and the molecular bases of bacterial and viral infections. There are also chapters dealing with specific aspects of immune recognition, the genetics of sexual determination in humans and a new technique for studying the human genome. This book is intended for researchers and physicians in the fields of immunology, genetics, bacteriology/virology, cancerology, developmental biology, cellular biology and neurobiology.

Epigenetics in Cardiovascular Disease, a new volume in the Translational Epigenetics series, offers a comprehensive overview of the epigenetics mechanisms governing cardiovascular disease development, as well as instructions in research methods and guidance in pursing new studies. More than thirty international experts provide an (i) overview of the epigenetics mechanisms and their contribution to cardiovascular disease development, (i) high-throughput methods for RNA profiling including single-cell RNA-seq, (iii) the role of nucleic acid methylation in cardiovascular disease development, (iv) epigenetic actors as biomarkers and drug targets, (v) and the potential of epigenetics to advance personalized medicine. Here, readers will discover strategies to combat research challenges, improve quality of their epigenetic research and reproducibility of their findings. Additionally, discussion of assay and drug development for personalized healthcare pave the way for a new era of understanding in cardiovascular disease.

Population genetics is an inherently quantitative discipline, yet often focuses upon abstract concepts which can be difficult to conceptualize and appropriately visualize at first glance. This book focuses on applying the hugely popular R software specifically to the field, offering an accessible, step-by-step guide to tackling the challenges of achieving effective data interpretation and summary. The authors adopt an engaging "learning by doing" approach that will enable readers to develop an intuitive understanding of key population genetics concepts through the use of R. Beginning with the groundwork of installing and using R (including CRAN and the RStudio IDE), the book works through the use of basic commands for data manipulation. An introduction to basic terminology in population genetics follows, clearly explaining how these fundamental assumptions can provide insights and form basic inferences for real populations. The focus then moves onto statistical tests including writing and running algorithms as functions. Subsequent chapters examine genetic variation, adaptation, and natural selection as well as different approaches to population differences. Importantly, the accompanying set of practical exercises demonstrate that implementing all of these concepts via programming can actually help greatly in understanding them, even if they may at first seem insurmountably complex. Finally, this accessible textbook points the way forwards to other key concepts that are important to understanding modern day population genetics research (in particular coalescent theory) and offers the reader useful launching points for further learning. Population Genetics with R is aimed at students ranging from undergraduate to postgraduate level in the fields of population genetics, ecology, evolutionary biology, conservation genetics, computational biology, and biostatistics.

Genomics has transformed the biological sciences. From epidemiology and medicine to evolution and forensics, the ability to determine an organism's complete genetic makeup has changed the way science is done and the questions that can be asked of it. Its most celebrated achievement was the Human Genome Project, a technologically challenging endeavor that took thousands of scientists around the world 13 years and over 3 billion US dollars to complete. In this Very Short Introduction John Archibald explores the science of genomics and its rapidly expanding toolbox. Sequencing a human genome now takes only a few days and costs as little as $1,000. The genomes of simple bacteria and viruses can be sequenced in a matter of hours on a device that fits in the palm of your hand. The resulting sequences can be used to better understand our biology in health and disease and to 'personalize' medicine. Archibald shows how the field of genomics is on the cusp of another quantum leap; the implications for science and society are profound. ABOUT THE SERIES: The Very Short Introductions series from Oxford University Press contains hundreds of titles in almost every subject area. These pocket-sized books are the perfect way to get ahead in a new subject quickly. Our expert authors combine facts, analysis, perspective, new ideas, and enthusiasm to make interesting and challenging topics highly readable.

Environmental DNA (eDNA) refers to DNA that can be extracted from environmental samples (such as soil, water, feces, or air) without the prior isolation of any target organism. The analysis of environmental DNA has the potential of providing high-throughput information on taxa and functional genes in a given environment, and is easily amenable to the study of both aquatic and terrestrial ecosystems. It can provide an understanding of past or present biological communities as well as their trophic relationships, and can thus offer useful insights into ecosystem functioning. There is now a rapidly-growing interest amongst biologists in applying analysis of environmental DNA to their own research. However, good practices and protocols dealing with environmental DNA are currently widely dispersed across numerous papers, with many of them presenting only preliminary results and using a diversity of methods. In this context, the principal objective of this practical handbook is to provide biologists (both students and researchers) with the scientific background necessary to assist with the understanding and implementation of best practices and analyses based on environmental DNA.

Developmental Human Behavioral Epigenetics: Principles, Methods, Evidence, and Future Directions, Volume 23, a new volume in the Translational Epigenetics series, offers the first systematic account of theoretical G79 frameworks, methodological approaches, findings, and future directions in the field of human behavioral epigenetics. Featuring contributions from leading scientists and international researchers, this book provides a comprehensive overview of human behavioral epigenetics, with a close examination of evidence gathered to-date from animal models, challenges of human-based research and clinical translation, pathways towards drug discovery, and next steps in research. Areas of focus include prenatal stress exposures, preterm behavioral epigenetics, intergenerational exposures, trauma and neglect, socio-economic conditions, maternal caregiving and attachment, study design, and epigenetics and psychotherapy.

Environmental Epigenetics in Toxicology and Public Health provides in-depth discussions of the suite of complex environmental factors shown to impact epigenetic components within the cell, as well as evidence that these epigenetic modifications are tied to early and later life health effects. This book offers a translational research perspective, highlighting both in vivo and human population-based evidence for ties between the environment, the epigenome, and health outcomes, with an emphasis on evidence for transgenerational effects of exposures, as well as developmental windows of susceptibility to environmentally-linked epigenetic effects. This volume in the Translational Epigenetics series aides in the development of new therapeutic options meant to reverse inappropriate epigenetic alterations, helping researchers in their efforts prevent and treat a variety of chronic diseases tied to environmental exposures.

In recent years, the field of epigenetics has grown significantly, driving new understanding of human developmental processes and disease expression, as well as advances in diagnostics and therapeutics. As the field of epigenetics continues to grow, methods and technologies have multiplied, resulting in a wide range of approaches and tools researchers might employ. Epigenetics Methods offers comprehensive instruction in methods, protocols, and experimental approaches applied in field of epigenetics. Here, across thirty-five chapters, specialists offer step-by-step overviews of methods used to study various epigenetic mechanisms, as employed in basic and translational research. Leading the reader from fundamental to more advanced methods, the book begins with thorough instruction in DNA methylation techniques and gene or locus-specific methylation analyses, followed by histone modification methods, chromatin evaluation, enzyme analyses of histone methylation, and studies of non-coding RNAs as epigenetic modulators. Recently developed techniques and technologies discussed include single-cell epigenomics, epigenetic editing, computational epigenetics, systems biology epigenetic methods, and forensic epigenetic approaches. Epigenetics methods currently in-development, and their implication for future research, are also considered in-depth. In addition, as with the wider life sciences, reproducibility across experiments, labs, and subdisciplines is a growing issue for epigenetics researchers. This volume provides consensus-driven methods instruction and overviews. Tollefsbol and contributing authors survey the range of existing methods; identify best practices, common themes, and challenges; and bring unity of approach to a diverse and ever-evolving field.

Genome Plasticity in Health and Disease provides a fully up-to-date overview on genome plasticity and its role in human physiology and disease. Following an introduction to the field, a diverse range of chapters cover genomic and epigenomic analysis and the use of model organisms and genomic databases in studies. Specific molecular and biochemical mechanisms of genome plasticity are examined, including somatic variants, De Novo variants, founder variations, isolated populations dynamics, copy-number variations, mobile elements, DNA methylation, histone modifications, transcription factors, non-coding RNAs, telomere dynamics and RNA editing. Later chapters explore disease relevance for cancer, as well as cardiovascular, neuropsychiatric, inflammatory, and endocrine disease, and associated pathways for drug discovery.

Our genome is the blueprint for our existence: it encodes all the information we need to develop from a single cell into a hugely complicated functional organism. Yet it is more than a static information store: our genome is a dynamic, tightly-regulated collection of genes, which switch on and off in many combinations to give the variety of cells from which our bodies are formed. But how do we identify the genes that make up our genome? How do we determine their function? And how do different genes form the regulatory networks that direct the processes of life? Introduction to Genomics is the most up-to-date and complete textbook for students approaching the subject for the first time. Lesk's engaging writing style brings a narrative to a disparate field of study and offers a fascinating insight into what can be revealed from the study of genomes. The book covers: the similarities and differences between organisms; how different organisms evolved; how the genome is constructed and how it operates; and what our understanding of genomics means in terms of our future health and wellbeing. The Online Resource Centre accompanying Introduction to Genomics features: For students: - Extensive and imaginative weblems (web-based problems) for each chapter designed to give you practice with the tools required for further study and research in the field - Hints and answers to end-of-chapter problems and exercises support your self-directed learning - Guided tour of websites and major archival databanks in genomics offer a wealth of resources to springboard your own research - Journal club: links to related research articles on topics covered in the book are paired with engaging questions to improve your interpretation of the primary literature - Rotating figures allow you to visualize complex structures For registered adopters: - Downloadable figures from the book.

DNA can be extracted and sequenced from a diverse range of biological samples, providing a vast amount of information about evolution and ecology. The analysis of DNA sequences contributes to evolutionary biology at all levels, from dating the origin of the biological kingdoms to untangling family relationships. An Introduction to Molecular Evolution and Phylogenetics presents the fundamental concepts and intellectual tools you need to understand how the genome records information about evolutionary past and processes, how that information can be "read", and what kinds of questions we can use that information to answer. Starting with evolutionary principles, and illustrated throughout with biological examples, it is the perfect starting point on the journey to an understanding of the way molecular data is used in modern biology. Online Resource Centre The Online Resource Centre features: For registered adopters of the book: - Class plans for one-hour hands-on sessions associated with each chapter - Figures from the textbook to view and download

Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research.

Cellular and Animal Models in Human Genomics Research provides an indispensable resource for applying comparative genomics in the annotation of disease-gene associated variants that are identified by human genomic sequencing. The book presents a thorough overview of effective protocols for the use of cellular and animal modeling methods to turn lists of plausible genes into causative biomarkers. With chapters written by international experts, the book first addresses the fundamental aspects of using cellular and animal models in genetic and genomic studies, including in-depth examples of specific models and their utility, i.e., yeast, worms, flies, fish, mice and large animals. Protocols for properly conducting model studies, genomic technology, modeling candidate genes vs. genetic variants, integrative modeling, utilizing induced pluripotent stem cells, and employing CRISPR-Cas9 are also discussed in-depth.

How is a tiny fertilised egg able to turn itself into a human being? How can an acorn transform itself into an oak tree? Over the past twenty years there has been a revolution in biology. For the first time we have begun to understand how organisms make themselves. The Art of Genes gives an account of these new and exciting findings, and of their broader significance for how we view ourselves. Through a highly original synthesis of science and art, Enrico Coen vividly describes this revolution in our understanding of how plants and animals develop.

Genome Chaos: Rethinking Genetics, Evolution, and Molecular Medicine transports readers from Mendelian Genetics to 4D-genomics, building a case for genes and genomes as distinct biological entities, and positing that the genome, rather than individual genes, defines system inheritance and represents a clear unit of selection for macro-evolution. In authoring this thought-provoking text, Dr. Heng invigorates fresh discussions in genome theory and helps readers reevaluate their current understanding of human genetics, evolution, and new pathways for advancing molecular and precision medicine.