A thought-provoking exploration of deleterious mutations in the human genome and their effects on human health and wellbeing Despite all of the elaborate mechanisms that a cell employs to handle its DNA with the utmost care, a newborn human carries about 100 new mutations, originated in their parents, about 10 of which are deleterious. A mutation replacing just one of the more than three billion nucleotides in the human genome may lead to synthesis of a dysfunctional protein, and this can be inconsistent with life or cause a tragic disease. Several percent of even young people suffer from diseases that are caused, exclusively or primarily, by pre ]existing and new mutations in their genomes, including both a wide variety of genetically simple Mendelian diseases and diverse complex diseases such as birth anomalies, diabetes, and schizophrenia. Milder, but still substantial, negative effects of mutations are even more pervasive. As of now, we possess no means of reducing the rate at which mutations appear spontaneously. However, the recent flood of genomic data made possible by next-generation methods of DNA sequencing, enabled scientists to explore the impacts of deleterious mutations on humans with previously unattainable precision and begin to develop approaches to managing them. Written by a leading researcher in the field of evolutionary genetics, Crumbling Genome reviews the current state of knowledge about deleterious mutations and their effects on humans for those in the biological sciences and medicine, as well as for readers with only a general scientific literacy and an interest in human genetics. * Provides an extensive introduction to the fundamentals of evolutionary genetics with an emphasis on mutation and selection * Discusses the effects of pre-existing and new mutations on human genotypes and phenotypes * Provides a comprehensive review of the current state of knowledge in the field and considers crucial unsolved problems * Explores key ethical, scientific, and social issues likely to become relevant in the near future as the modification of human germline genotypes becomes technically feasible Crumbling Genome is must-reading for students and professionals in human genetics, genomics, bioinformatics, evolutionary biology, and biological anthropology. It is certain to have great appeal among all those with an interest in the links between genetics and evolution and how they are likely to influence the future of human health, medicine, and society.

The sequencing of the human genome and subsequent elucidation of the molecular pathways that are important in the pathology of disease have provided unprecedented opportunities for the development of new therapeutics. Nucleic acid-based drugs have emerged in recent years to yield extremely promising candidates for drug therapy to a wide range of diseases. Advances in Nucleic Acid Therapeutics is a comprehensive review of the latest advances in the field, covering the background of the development of nucleic acids for therapeutic purposes to the array of drug development approaches currently being pursued using antisense, RNAi, aptamer, immune modulatory and other synthetic oligonucleotides. Nucleic acid therapeutics is a field that has been continually innovating to meet the challenges of drug discovery and development; bringing contributions together from leaders at the forefront of progress, this book depicts the many approaches currently being pursued in both academia and industry. A go-to volume for medicinal chemists, Advances in Nucleic Acid Therapeutics provides a broad overview of techniques of contemporary interest in drug discovery.

The DNA of all organisms is constantly being damaged by endogenous and exogenous sources. Oxygen metabolism generates reactive species that can damage DNA, proteins and other organic compounds in living cells. Exogenous sources include ionizing and ultraviolet radiations, carcinogenic compounds and environmental toxins among others. The discovery of multiple DNA lesions and DNA repair mechanisms showed the involvement of DNA damage and DNA repair in the pathogenesis of many human diseases, most notably cancer. These books provide a comprehensive overview of the interdisciplinary area of DNA damage and DNA repair, and their relevance to disease pathology. Edited by recognised leaders in the field, this two-volume set is an appealing resource to a variety of readers including chemists, chemical biologists, geneticists, cancer researchers and drug discovery scientists.

Aging has long since been ascribed to the gradual accumulation of DNA mutations in the genome of somatic cells. However, it is only recently that the necessary sophisticated technology has been developed to begin testing this theory and its consequences. Vijg critically reviews the concept of genomic instability as a possible universal cause of aging in the context of a new, holistic understanding of genome functioning in complex organisms resulting from recent advances in functional genomics and systems biology. It provides an up-to-date synthesis of current research, as well as a look ahead to the design of strategies to retard or reverse the deleterious effects of aging. This is particularly important in a time when we are urgently trying to unravel the genetic component of aging-related diseases. Moreover, there is a growing public recognition of the imperative of understanding more about the underlying biology of aging, driven by continuing demographic change.

This is the story of how three men won the Nobel Prize for their research on the humble nematode worm "C. elegans"; how their extraordinary discovery led to the sequencing of the human genome; how a global multibillion-dollar industry was born; and how the mysteries of life were revealed in a tiny, brainless worm.

In 1998 the nematode worm -- perhaps the most intensively studied animal on earth -- was the first multicellular organism ever to have its genome sequenced and its DNA mapped and read. "When we understand the worm, we will understand life," predicted John Sulston, one of the three Nobel laureates, and his prediction proved astonishingly accurate. Four years later, the research that led to this extraordinary event garnered three scientists a Nobel Prize. Along with Robert Horvitz and Sydney Brenner, Sulston discovered the phenomenon of programmed cell death in the worm, an essential concept that explains how biological development occurs in animal life and, as Horvitz later showed, how it occurs in human life. "C. elegans" is about as simple as an animal can be, but understanding its genetic organization is helping to reveal the mechanisms of life and, by extension, the mechanisms of our own lives. "In the Beginning Was the Worm" shows that in order to unlock the secrets of the human genome we must first understand the worm.

But this story is about more than just the worm. It is about how an eccentric group of impassioned scientists toiled in near anonymity for years, driven only by a deep passion for knowledge and scientific discovery. It is the story of countless hours of research, immense ambition, and one of the greatest discoveries in human history.

The latest edition of this highly successful textbook introduces the key techniques and concepts involved in cloning genes and in studying their expression and variation.
The new edition features:
Increased coverage of whole-genome sequencing technologies and enhanced treatment of bioinformatics.Clear, two-colour diagrams throughout.A dedicated website including all figures.

Noted for its outstanding balance between clarity of coverage and level of detail, this book provides an excellent introduction to the fast moving world of molecular genetics.

This is an introductory text and laboratory manual to be used primarily in undergraduate courses. It is also useful for graduate students and research scientists who require an introduction to the theory and methods of nanopore sequencing. The book has clear explanations of the principles of this emerging technology, together with instructional material written by experts that describes how to use a MinION nanopore instrument for sequencing in research or the classroom.At Harvard University the book serves as a textbook and lab manual for a university laboratory course designed to intensify the intellectual experience of incoming undergraduates while exploring biology as a field of concentration. Nanopore sequencing is an ideal topic as a path to encourage students about the range of courses they will take in Biology by pre-emptively addressing the complaint about having to take a course in Physics or Maths while majoring in Biology. The book addresses this complaint by concretely demonstrating the range of topics - from electricity to biochemistry, protein structure, molecular engineering, and informatics - that a student will have to master in subsequent courses if he or she is to become a scientist who truly understands what his or her biology instrument is measuring when investigating biological phenomena.

With over two hundred types of cancer diagnosed to date, researchers the world over have been forced to rapidly update their understanding of the biology of cancer. In fact, only the study of the basic cellular processes, and how these are altered in cancer cells, can ultimately provide a background for rational therapies. Bringing together the state-of-the-art contributions of international experts, Systems Biology of Cancer proposes an ultimate research goal for the whole scientific community: exploiting systems biology to generate in-depth knowledge based on blueprints that are unique to each type of cancer. Readers are provided with a realistic view of what is known and what is yet to be uncovered on the aberrations in the fundamental biological processes, deregulation of major signaling networks, alterations in major cancers and the strategies for using the scientific knowledge for effective diagnosis, prognosis and drug discovery to improve public health.

This is the story of how three men won the Nobel Prize for their research on the humble nematode worm "C. elegans"; how their extraordinary discovery led to the sequencing of the human genome; how a global multibillion-dollar industry was born; and how the mysteries of life were revealed in a tiny, brainless worm.

In 1998 the nematode worm -- perhaps the most intensively studied animal on earth -- was the first multicellular organism ever to have its genome sequenced and its DNA mapped and read. "When we understand the worm, we will understand life," predicted John Sulston, one of the three Nobel laureates, and his prediction proved astonishingly accurate. Four years later, the research that led to this extraordinary event garnered three scientists a Nobel Prize. Along with Robert Horvitz and Sydney Brenner, Sulston discovered the phenomenon of programmed cell death in the worm, an essential concept that explains how biological development occurs in animal life and, as Horvitz later showed, how it occurs in human life. "C. elegans" is about as simple as an animal can be, but understanding its genetic organization is helping to reveal the mechanisms of life and, by extension, the mechanisms of our own lives. "In the Beginning Was the Worm" shows that in order to unlock the secrets of the human genome we must first understand the worm.

But this story is about more than just the worm. It is about how an eccentric group of impassioned scientists toiled in near anonymity for years, driven only by a deep passion for knowledge and scientific discovery. It is the story of countless hours of research, immense ambition, and one of the greatest discoveries in human history.

A plasmid is a DNA molecule that is separate from, and can replicate independently of, the chromosomal DNA. They are double-stranded and circular in form. Plasmids usually occur naturally in bacteria, but are sometimes found in eukaryotic organisms. In this book, the authors present current research in the genetics, applications and health issues relating to plasmids. Topics include the development of multifunctional plasmids for diverse biotechnological applications; plasmids as indispensable components of multipartite azospirillum genomes; structural and segregational instability in plasmid biology; and conjugal plasmid transfer and phage inhibition kinetics.

This book provides a description of the theoretical basis of the technique, the practical details of the method, and the philosophy behind the technology transfer program that Harris has developed over the past ten years. The book serves as a guide for potential users in developing countries and for scientists who may wish to work abroad. In addition, the low-cost approach outlined in this book can be useful for high school, undergraduate, or continuing education programs.

Epigenetics is the study of heritable changes in gene function that do not involve changes in the DNA sequence. These changes, consisting principally of DNA methylation, histone modifications, and non-coding RNAs, maintain or modulate the initial impact of regulatory factors that recognize and associate with particular genomic sequences. Epigenetic modifications are manifest in all aspects of normal cellular differentiation and function, but they can also have damaging effects that result in pathologies such as cancer. Research is continuously uncovering the role of epigenetics in a variety of human disorders, providing new avenues for therapeutic interventions and advances in regenerative medicine. This book's primary goal is to establish a framework that can be used to understand the basis of epigenetic regulation and to appreciate both its derivation from genetics and interdependence with genetic mechanisms. A further aim is to highlight the role played by the three-dimensional organization of the genetic material itself (the complex of DNA, histones and non-histone proteins referred to as chromatin), and its distribution within a functionally compartmentalized nucleus. This architectural organization of the genome plays a major role in the subsequent retrieval, interpretation, and execution of both genetic and epigenetic information.

DNA fingerprinting is a revolutionary technique that enables scientists to match minute tissue samples and facilitates scientific studies on the composition, reproduction, and evolution of animal and plant populations. As a tool for positive identification of criminals, it plays a particularly important role in forensic science. The first book to be published in the field, , DNA Fingerprinting is a practical guide to basic principles and laboratory methods as applied to a variety of fields including forensic analysis, paternity testing, medical diagnostics, animal and plant sciences, and wildlife poaching.

With humor, depth, and philosophical and historical insight, "DNA" reaches out to a wide range of readers with its graphic portrayal of a complicated science. Suitable for use in and out of the classroom, this volume covers DNA's many marvels, from its original discovery in 1869 to early-twentieth-century debates on the mechanisms of inheritance and the deeper nature of life's evolution and variety.

Even readers who lack a background in science and philosophy will learn a tremendous amount from this engaging narrative. The book elucidates DNA's relationship to health and the cause and cure of disease. It also covers the creation of new life forms, nanomachines, and perspectives on crime detection, and considers the philosophical sources of classical Darwinian theory and recent, radical changes in the understanding of evolution itself. Already these developments have profoundly affected our notions about living things. Borin Van Loon's humorous illustrations recount the contributions of Gregor Mendel, Frederick Griffith, James Watson, and Francis Crick, among other biologists, scientists, and researchers, and vividly depict the modern controversies surrounding the Human Genome Project and cloning.

An up-to-date survey of the current exciting state of telomere biology. Telomeres - specialized structures found at the ends of chromosomes - are essential for maintaining the integrity of chromosomes and their faithful duplication during cell division. Chapters in this volume cover telomere structure and function in a range of organisms, focusing on how they are maintained, their roles in cell division and gene expression, and how deficiencies in these structures contribute to cancers and other diseases and even aging.

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.

RNA interference (RNAi) has the potential to make major contributions towards sustainable crop production and protection with minimal environmental impacts compared to other technologies. RNAi is being developed and exploited both within plants (i.e. host-induced gene silencing, HIGS) and/or as topical applications (e.g. spray-induced gene silencing, SIGS) for targeting pest and pathogen genes and for manipulating endogenous gene expression in plants. Chapters by international experts review current knowledge on RNAi, methods for developing RNAi systems in GM plants and applications for crop improvement, crop production and crop protection. Chapters examine both endogenous systems in GM plants and exogenous systems where interfering RNAs are applied to target plants, pests and pathogens. The biosafety of these different systems is examined and methods for risk assessment for food, feed and environmental safety are discussed. Finally, aspects of the regulation of technologies exploiting RNAi and the socio-economic impacts of RNAi technologies are discussed.

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 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.

Studying human migratory patterns can help us make sense of evolution, biology, linguistics, and so much more. Human Migration takes readers through population development and their respective origins to create a comprehensive picture of human migratory patterns. This book explores human migration as a major contributor to globalization that facilitates gene flow and the exchange of cultures and languages. It also traces evolutionary success of a hybrid population, the Black Caribs, after their forced relocation from St. Vincent Island to the Bay Islands and Central America. The volume is split into four sections: Theoretical Overview; Ancient DNA and Migration; Regional Migration; Culture and Migration: and Disease and Migration. This division allows for a seamless transition between a broad range of topics, including molecular genetics, linguistics, cultural anthropology, history, archaeology, demography, and genetic epidemiology. Assembled by volume editors and migration specialists Maria de Lourdes Munoz-Moreno and Michael H. Crawford, Human Migration creates an opportunity for researchers, professionals, and students from different fields to review and discuss the most recent trends and challenges surrounding migration, genetics, and anthropology.

This book is the first to approach the fast developing field of wildlife forensics with a focus on the application of DNA profiling and analysis. Case studies throughout link theory and practice and highlight the use of DNA testing in species testing. The text assumes only a basic background knowledge of DNA, so offers information boxes clarifying technical information, step-by-step guidance on sequence comparisons, and a discussion of the different markers used in species testing. This produces a highly accessible introduction for both students and forensic professionals.

Illustrated thoroughly, Biomolecular Archaeology is the first book to clearly guide students through the study of ancient DNA: how to analyze biomolecular evidence (DNA, proteins, lipids and carbohydrates) to address important archaeological questions. * The first book to address the scope and methods of this new cross-disciplinary area of research for archaeologists * Offers a completely up-to-date overview of the latest research in this innovative subject * Guides students who wish to become biomolecular archaeologists through the complexities of both the scientific methods and archaeological goals. * Provides an essential component to undergraduate and graduate archaeological research

What are the genomic signatures of adaptations in DNA? How often does natural selection dictate changes to DNA? How does the ebb and flow in the abundance of individuals over time get marked onto chromosomes to record genetic history? Molecular population genetics seeks to answer such questions by explaining genetic variation and molecular evolution from micro-evolutionary principles. It provides a way to learn about how evolution works and how it shapes species by incorporating molecular details of DNA as the heritable material. It enables us to understand the logic of how mutations originate, change in abundance in populations, and become fixed as DNA sequence divergence between species. With the revolutionary advances in genomic data acquisition, understanding molecular population genetics is now a fundamental requirement for today's life scientists. These concepts apply in analysis of personal genomics, genome-wide association studies, landscape and conservation genetics, forensics, molecular anthropology, and selection scans. This book introduces, in an accessible way, the bare essentials of the theory and practice of molecular population genetics.

This book adopts an experimental approach to understanding the mechanisms of evolution and the nature of evolutionary processes, with examples drawn from microbial, plant and animal systems. It incorporates insights from remarkable recent advances in theoretical modelling, and the fields of molecular genetics and environmental genomics. Adaptation is caused by selection continually winnowing the genetic variation created by mutation. In the last decade, our knowledge of how selection operates on populations in the field and in the laboratory has increased enormously, and the principal aim of this book is to provide an up-to-date account of selection as the principal agent of evolution. In the classical Fisherian model, weak selection acting on many genes of small effect over long periods of time is responsible for driving slow and gradual change. However, it is now clear that adaptation in laboratory populations often involves strong selection acting on a few genes of large effect, while in the wild selection is often strong and highly variable in space and time. Indeed these results are changing our perception of how evolutionary change takes place. This book summarizes our current understanding of the causes and consequences of selection, with an emphasis on quantitative and experimental studies. It includes the latest research into experimental evolution, natural selection in the wild, artificial selection, selfish genetic elements, selection in social contexts, sexual selection, and speciation.

This adventure in science and imagination, which the Medical Tribune said might herald "a Copernican revolution for the life sciences," leads the reader through unexplored jungles and uncharted aspects of mind to the heart of knowledge. In a first-person narrative of scientific discovery that opens new perspectives on biology, anthropology, and the limits of rationalism, The Cosmic Serpent reveals how startlingly different the world around us appears when we open our minds to it.