The discovery of the two inherited susceptibility genes BRCA1 and BRCA2 in the mid-1990s created the possibility of predictive genetic testing and led to the establishment of specific medical programmes for those at high risk of developing breast cancer in the UK, US and Europe. The book provides a coherent structure for examining the diversity of practices and discourses that surround developments linked to BRCA genetics, and to the evolving field of genetics more broadly. It will be of interest to students and scholars of anthropology, sociology, history of science, STS, public health and bioethics. Chapter 8 of this book is freely available as a downloadable Open Access PDF under a Creative Commons Attribution-Non Commercial-No Derivatives 3.0 license. https://s3-us-west-2.amazonaws.com/tandfbis/rt-files/docs/Open+Access+Chapters/9780415824064_oachapter8.pdf

The successful achievement of pregnancies following pre-implantation genetic diagnosis (PGD) was first reported in April 1990. The technology is often used for patients who are at substantial risk of conceiving a pregnancy affected by a known genetic disorder, however from this technology other more controversial uses have arisen such as HLA typing to save the life of a sibling, gender selection for social reasons, the prevention of late onset diseases, or the prevention of diseases which may be genetically predisposed to developing such as breast cancer. The technology surrounding PGD is constantly developing, giving rise to new and unexpected consequences that create fresh ethical and legal dilemmas. Featuring internationally recognized experts in the field, this book critically explores the regulation of PGD and the broader legal and ethical issues associated with it. It looks at the regulatory situation in a number of jurisdictions including New Zealand, Australia and the United Kingdom, but it also explores a number of themes of wide significance including a historical consideration of PGD and its part in the creation of the "genetic embryo" as a political tool, the over regulation of PGD and the ethical difficulties in handling additional unexpected medical information yielded by new technologies. This book will be of particular interest to academics and students of law, medicine and ethics.

Recent efforts to characterize genetic variation in the human genome, coupled with the rapidly developing field of genomics, have lead directly to the development of new and innovative approaches to the identification of genes contributing to complex human diseases. In Disease Gene Identification: Methods and Protocols, expert researchers in the field provide up-to-date molecular methodologies used in the process of identifying a disease gene, from the initial stage of study design to the next stage of preliminary locus identification, and ending with stages involved in target characterization and validation. As a volume in the highly successful Methods in Molecular Biology (TM) series, chapters contain brief introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and detailed tips on troubleshooting and avoiding known pitfalls. Authoritative and essential, Disease Gene Identification: Methods and Protocols seeks to aid scientists striving toward the identification and characterization of the many disease-related genes, which may someday pave the way for more accurate and improved methods of disease diagnosis as well as vital strategies for disease treatment and prevention.

Despite major efforts by the scientific community over the years, our understanding of the pathogenesis or the mechanisms of injury of multiple sclerosis is still limited. Consequently, the current strategies for treatment and management of patients are limited in their efficacy. The mechanisms of tissue protection and repair are probably even less understood. One reason for these limitations is the enormous complexity of the disease and every facet of its pathogenesis, the mechanisms of tissue injury, the diagnostic procedures and finally the efficacy of treatments and their side effects. The aim of this book is to review the most recent advances made in this highly complex field.

In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future.

Brain tumors are the most common solid tumor of childhood as well as the leading cause of cancer-related mortality in children. This third volume of the Springer series discussing pediatric cancer focuses on diagnosing, treating, and assessing the future course of malignant brain neoplasms in children. In addition to a general introduction to the principals involved, the material includes vital research in molecular genetics, a major contribution to the molecular characterization of solid tumors, which will define new biomarkers of the disease and identify molecular pathways. Now it has become possible to achieve the goal of targeting new, more effective therapies to minimize the tragedy faced by children. This research features the application of molecular genetics in combating atypical teratoid/rhabdoid tumor (AT/RT), a highly aggressive embryonal CNS tumor that is among the most common malignant neoplasms in children, with a peak occurrence in infants younger than three years old. Contributors also examine the reasons for the common misdiagnosis of AT/RT tumors as other types of CNS tumors. They help resolve this issue by indicating the details of an abnormality in the genetics of AT/RT, which is unique to AT/RT type. The INII gene on chromosome 22q11 is involved in the AT/RT. The presence of this gene and the SMARCB1 is discussed. In addition to discussing these important topics, the volume includes presentations of present and future therapies. The volume also explains AT/RT's dissemination to the cerebral fluid, the molecular mechanisms underlying the progression of medulloblastoma, and the importance of gamma knife radiosurgery during multimodality management of medulloblastoma/PNET tumors. Other topics discussed include using magnetic resonance imaging for diagnosing retinoblastoma, and mapping the effects of radiotherapy in low-grade glioma in children. Information on alterations in cell-cycle regulators that are influenced by tumor suppressor genes and oncogenes is detailed. Contributors provide recommendations concerning non-narcotic analgesic routines for children recovering from cranial and spinal surgery. The practical knowledge of frontier-expanding research presented leads this authoritative volume to be a compelling addition to the literature.

Pain Genetics: Basic to Translational Science is a timely synthesis of the key areas of research informing our understanding of the genetic basis of pain. The book opens with foundational information on basic genetic mechanisms underlying pain perception and progresses recently discovered complex concepts facing the field. The coverage is wide-ranging and will serves as an excellent entry point into understating the genetics of pain as well as providing a single resource for established researchers looking for a better understanding of the diverse strands of research going on in the area. With contributors painstakingly selected to provide a broad range of perspectives and research, Pain Genetics will be a valuable resource for geneticists, neuroscientists, and biomedical professionals alike.

MicroRNA (miRNA) is a cutting-edge topic in the scientific and medical fields. This is a timely and specialized book focusing on the current understanding of miRNAs and the potential for their application in cancer diagnosis, prognosis, and therapeutic targets. It also provides discussion of the lessons learned from translational miRNA studies and exploration of the next steps required to advance this field.

The unique book comprises 22 in-depth chapters by gathering unparalleled topics of interest in miRNAs by international team of world-renowned experts in the field. The first fifteen chapters provide comprehensive and expert perspectives on the most common cancers from bench to bedside applications, there is no current book structured in this cancer-oriented way. The next seven chapters providing thorough overviews of miRNAs and cancer stem cells; miRNAs in cancer invasion and metastasis; miRNAs in predicting radiotherapy and chemotherapy response; as well as expounding the role of miRNA in anti-cancer drug resistance and as blood-based cancer biomarkers. Furthermore, this book explicates the interplay of miRNAs in cancer metabolism and an update on the pioneering RNAi-based treatment approaches is also presented.

This specialized book will contribute great to the scientific and medical community by providing the up-to-date discoveries of miRNAs and their important roles in cancer translational research.

Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library!

In "Functional Analysis of DNA and Chromatin," expert researchers in the field provide an overview of standard and more recent methods for the functional analysis of the genetic material. These include methods on DNA-dye binding modes, chromatin staining, nuclear dispersion assays, DNA labeling" in vivo," sister chromatid exchanges, FISH, DNA and chromatin imaging by fluorescence, electron and atomic force microscopy, detection of apoptotic DNA, cytosine methylation and hydroxy-methylation, DNA thermophoresis, improved methods for histone analysis, chromatin immunoprecipitation, and analysis of rDNA genes and chromatin-associated RNA. 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 key tips on troubleshooting and avoiding known pitfalls.

Authoritativeand practical, "Functional Analysis of DNA and Chromatin "seeks to aid scientists in the further study of cellular and molecular biology of the nucleus.

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Gene regulatory networks play a vital role in organismal development and function by controlling gene expression. With the availability of complete genome sequences, several novel experimental and computational approaches have recently been developed which promise to significantly enhance our ability to comprehensively characterize these regulatory networks by enabling the identification of respectively their genomic or regulatory state components, or the interactions between these two in unprecedented detail. Divided into five convenient sections, Gene Regulatory Networks: Methods and Protocols details how each of these approaches contributes to a more thorough understanding of the composition and function of gene regulatory networks, while providing a comprehensive protocol on how to implement them in the laboratory. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and accessible, Gene Regulatory Networks: Methods and Protocols aims to provide novices and experienced researchers alike with a comprehensive and timely toolkit to study gene regulatory networks from the point of data generation to processing, visualization, and modeling.

Written by the successful author team of Sandy Primrose and Richard Twyman, "Genomics: Applications in Human Biology" is a topical book showing how the new science of genomics is adding impetus to the advances in human health provided by biotechnology.

Aimed at advanced undergraduates, it assumes a basic knowledge of the principles of recombinant DNA technology and will form an excellent basis for further study into human disease, cancer, and new therapies.

Written to provide the necessary overview of the subject, covering technological developments, applications and (where necessary) their ethical implications
Divided into three sections, the first section introduces the role of biotechnology and genomics in medicine and sets out some of the technological advances that have been the basis of recent medical breakthroughs
The second section takes a closer look at how biotechnology and genomics are influencing the prevention and treatment of different categories of disease
Finally the contribution of biotechnology and genomics to the development of different types of therapy is described, including conventional drugs, recombinant proteins and gene/cell therapies
References to appropriate sections in two other popular books, authored by Sandy Primrose and Richard Twyman, are included - Principles of Gene Manipulation and Principles of Gene Analysis and Genomics
Features several categories of boxed text, including history boxes (describing the origins and development of particular technologies or treatments), molecular boxes (featuring the molecular basis of diseases or treatments in more detail) and ethics boxes (which discusses the ethicalimplications of technology development and new therapies)

Recent developments in microarray technology have changed the landscape of biology and biomedical research, and they have revolutionized RNA and DNA research. In Biological Microarrays: Methods and Protocols, expert researchers explore exciting new developments in the field, providing a comprehensive approach to biological microarrays that conveys not only the state-of-the-art fundamentals, but also includes applications of the most innovative methods. Chapters address both the application of biological microarrays, including DNA/RNA, apatmer, proteins, tissues, oligonucleotides, carbohydrates, biomaterials, cells, bacteria, and virus microarrays, and also explore the different techniques used for generating microarray platforms. Composed in the highly successful Methods in Molecular Biology (TM) series format, each chapter contains a brief introduction, step-by-step methods, a list of necessary materials, and a Notes section which shares tips on troubleshooting and avoiding known pitfalls. Wide-ranging and revolutionary, Biological Microarrays: Methods and Protocols serves as a primary source for academics, practitioners, and professionals in related fields, including biologists, biotechnologists, biochemists, analytical chemists, and biomedical, physical, and microsystems engineers, to name a few, appealing to all of those interested in the present and future state of biological microarray research.

This is a completely revised edition of a comprehensive and popular introduction to the fast moving area of Forensic Genetics. The text begins with key concepts needed to fully appreciate the subject and moves on to examine the latest developments in the field. Now illustrated in full colour throughout, this accessible textbook includes numerous references to relevant casework. With information on the full process of DNA evidence from collection at the scene of a crime to presentation in a legal context this book provides a complete overview of the field.

Key Features: Greater in-depth coverage of kinship problems now covered in two separate chapters: one dealing with relationships between living individuals and the other covering identification of human remains. New chapter on non-human forensic genetics, including identification of bacteria and viruses, animals and plants. Self assessment questions to aid student understanding throughout the text. Now with full colour illustrations throughout New companion website Accessible introduction to forensic genetics, from the collection of evidence to the presentation of evidence in a legal context.

Included in the Forensic Science Society 'Essentials in Forensic Science' book series. This edition is to be included in the Forensic Science Society 'Essentials of Forensic Science' book series aimed at advanced level undergraduates and new practitioners to the field.

This second edition provides a broad spectrum of methods used in long non-coding RNAs (lncRNA) research, ranging from computational annotation of lncRNA genes to molecular and cellular analyses of the function of individual lncRNA. Chapters guide readers through studies used to circular RNAs, RNA splicing, and findings on lncRNA in human diseases. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Long Non-Coding RNAs: Methods and Protocols,Second Edition aims to ensure successful results in the further study of this vital field.

Good health and medical care in childhood and adolescence are essential for the ability to neutralize health threats later in life and to extend longevity. Thus, pediatric diseases, diagnostics and treatment justifiably draw ever increasing attention. The book highlights recent advances and innovations in gastroesophageal ailments, often missed in children, respiratory infections, and in genetically determined immune malfunctions such as familial hemophagocytic lymphohistiocytosis, known as a cytokine storm, renal vasculitis, or thyroid and growth anomalies. Functional genomics has become part of genetic counseling aimed at early diagnosis and treatment of chromosomal aberrations underlying congenital malformations. Deeper insights into childhood morbidity require identification of the pathways and biological processes most affected which could become drug targets. This book is dedicated to practical aspects of multifactorial disease processes of young age. It will be of interest to pediatricians, family doctors, and clinical researchers.

This volume contains cutting-edge techniques to study the function of enhancers and promoters in depth. Chapters are divided into six sections and describe enhancer-promoter transcripts, nucleosome occupancy, DNA accessibility, chromatin interactions, protein-DNA interactions, functional analyses, and DNA methylation assays. Written in the Methods in Molecular Biology series format, chapters include comprehensive introductions, lists of the necessary materials and reagents, step-by-step laboratory protocols, and useful suggestions for troubleshooting. Authoritative and cutting-edge, Enhancers and Promoters: Methods and Protocols is a useful guide for future experiments. Chapters 4 and 11 are available open access under a Creative Commons Attribution 4.0 International License via link.springer.com

Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences. The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients. The book is written for everyone interested to learn about the process of genetic testing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals in health policy or health journalism.

This volume provides methodologies for ES and iPS cell technology on the study of cardiovascular diseases. Chapters guide readers through protocols on cardiomyocyte generation from pluripotent stem cells, physiological measurements, bioinformatic analysis, gene editing technology, and cell transplantation studies. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Pluripotent Stem-Cell Derived Cardiomyocytes aims to help researchers set up experiments using pluripotent stem cell-derived cardiac cells.

Stem cells hold great promise for cell therapy, tissue engineering, regenerative medicine and pharmaceutical and biotechnological applications. This book highlights the potency of stem cells, their property of self-renewal and their ability to differentiate into different cell lineages. It further describes the different markers to identify stem cells, sources, methods of isolation, culture including 2D, 3D and beyond and their cryopreservation. This is among the first books to discuss glycosylation and sialylation in stem cells. Chapters describe application of stem cells in regenerative medicine and therapy, and highlight their application in cancer therapy and spinal cord injury. The book talks about the important patents on stem cells. The book also highlights the plant stem cells, discussing their pluoripotent nature, role in organ regeneration after injury, specific stem cell niches, that signals to block differentiation studied in plants shoot, root, and vascular meristems, differentiation of plant stem cell, transcriptional regulation and epigenetic modification of plant stem cells. This book is exciting and cutting edge. It will be of great interest to doctors, students and researchers in the field of regenerative medicine, cancer , biotechnology and plant sciences.

Effective care of the cancer patient increasingly involves systemic treatment, and as the range of available therapeutic agents continues to expand, the medical oncologist must be fully aware of the rationale for choosing specific drugs and combinations. Textbook of Medical Oncology, 4th edition, is written by a highly acclaimed list of international authors and is a key source of reference for all working in the field of oncology.

Presents the State-of-the-Art in Fat Taste Transduction

A bite of cheese, a few potato chips, a delectable piece of bacon a small taste of high-fat foods often draws you back for more. But why are fatty foods so appealing? Why do we crave them? Fat Detection: Taste, Texture, and Post Ingestive Effects covers the many factors responsible for the sensory appeal of foods rich in fat. This well-researched text uses a multidisciplinary approach to shed new light on critical concerns related to dietary fat and obesity.

Outlines Compelling Evidence for an Oral Fat Detection System

Reflecting 15 years of psychophysical, behavioral, electrophysiological, and molecular studies, this book makes a well-supported case for an oral fat detection system. It explains how gustatory, textural, and olfactory information contribute to fat detection using carefully designed behavioral paradigms. The book also provides a detailed account of the brain regions that process the signals elicited by a fat stimulus, including flavor, aroma, and texture.

This readily accessible work also discusses:

• The importance of dietary fats for living organisms
• Factors contributing to fat preference, including palatability
• Brain mechanisms associated with appetitive and hedonic experiences connected with food consumption
• Potential therapeutic targets for fat intake control
• Genetic components of human fat preference
• Neurological disorders and essential fatty acids

Providing a comprehensive review of the literature from the leading scientists in the field, this volume delivers a holistic view of how the palatability and orosensory properties of dietary fat impact food intake and ultimately health. Fat Detection represents a new frontier in the study of food perception, food intake, and related health consequences.

This book is the output of Anthropological Survey of India's National Project "DNA Polymorphism of Contemporary Indian Population" conducted during 2000 to 2018. The book compiles the independent and collaborative work of 49 scientific personnel. Genomics facilitate the study of genetic constitution and diversity at individual and population levels. Genomic diversity explains susceptibility, predisposition and prolongation of diseases; personalized medicine and longevity; prehistoric demographic events, such as population bottleneck, expansion, admixture and natural selection. This book highlights the heterogeneous, genetically diverse population of India. It shows how the central geographic location of India, played a crucial role in historic and pre-historic human migrations, and in peopling different continents of the world. The book describes the massive task undertaken by AnSI to unearth genomic diversity of India populations, with the use of Uni-parental DNA markers mtDNA (mitochondrial DNA) and Y -chromosome in 75 communities. The book talks about the 61 maternal and 35 paternal lineages identified through these studies. It brings forth interesting, hitherto unknown findings such as shared mutations between certain communities. This volume is a milestone in scientific research to understand biological diversity of Indian people at genomic level. It addresses the basic priority to identify different genes underlying various inborn genetic defects and diseases specific to Indian populations. This would be highly interesting to population geneticists, historians, as well as anthropologists.