We live in an era of personalized medicine and the knowledge about pathophysiology of diffuse gastric cancer has had many advances. Thus, the role of this work is to clarify what is new from diagnosis to treatment of this disease in order to treat patients in the most tailored manner as possible. Almost all phase III trials in gastric cancer have been performed without taking in consideration histologic subtypes, i.e. they have disregarded the differences between diffuse gastric cancer and general gastric cancer. However, the clinical practice reveals that diffuse gastric cancer is a completely distinct disease, with an aggressive course and generally worse prognosis. The loss of cohesion between tumor cells due to the loss of E-cadherin synthesis is the critical point on the oncogenesis of diffuse gastric cancer and is at the root of its marked heredity. This book intends to give special attention to Diffuse Gastric Cancer as a particular oncological entity, differentiating it from general gastric cancer, exploring and discussing all its peculiarities, and addressing the basic aspects (pathology and genetics) along with the most recent therapeutic alternatives for this condition.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

This volume is divided in four sections; covering genome wide approaches, techniques for characterize of paRNA structural features are described, selecting pa-RNA, and paRNA therapeutic potential. Chapters describe how siRNAsdirected against paRNAs can be applied in vivo to modulate transcription of important genes controlled by paRNAs. 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, Promoter Associated RNA: Methods and Protocols aims to demonstrate paRNAs as new class of regulatory molecules, to further investigate and value as tools for fine transcriptional tuning.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

"In this remarkably broad and far-reaching work, editor Mark Rothstein and his distinguished list of contributors have laid out an impressive framework for the field. Beginning with a survey of public attitudes, and progressing through scientific, clinical, governmental, legal, economic, and societal issues, the text builds to a final provocative epilogue on consequences for public policy."
—from the Foreword by Francis S. Collins

Pharmacogenomics promises to revolutionize medicine by enabling the prevention, diagnosis, and treatment of diseases at the genome level. While a substantial amount of public and private research focuses on new pharmacogenomic applications, notably less attention has been directed to the ethical, legal, and social implications of "individualized medicine." Mark Rothstein’s timely anthology reduces that scholarship deficit, presenting a multidisciplinary analysis of the scientific, clinical, economic, ethical, social, and legal implications of pharmacogenomics.

Assembling an all-star cast of bioethical scholars, medical researchers, legal scholars, and social scientists, Mark Rothstein examines the promises, questions, and concerns these revolutionary therapies implicitly present. Among other features, Pharmacogenomics:

• Reports for the first time the results of the first detailed, national survey of public attitudes regarding pharmacogenomics
• Covers informed consent, privacy, confidentiality, and risk—benefit evaluations
• Analyzes the potentially enormous changes in the standard of care and the approach to treatment with the development and application of pharmacogenomic technology
• Addresses practical considerations of education, training, oversight, guidelines and protocols, and continuing education requirements
• Recommends approaches to respond to the more complex issues of safety, efficacy, and quality in the distribution and development of individualized therapies
• Explores the new legal standards and implementation challenges
• Offers a policy framework that balances the benefits and risks and considers the wide range of legislative, regulatory, and professional options

Biotechnology and pharmaceutical researchers and regulators, health care professionals and students, and academics and policymakers will find Pharmacogenomics to be a valuable resource.

Computational Epigenetics and Diseases, written by leading scientists in this evolving field, provides a comprehensive and cutting-edge knowledge of computational epigenetics in human diseases. In particular, the major computational tools, databases, and strategies for computational epigenetics analysis, for example, DNA methylation, histone modifications, microRNA, noncoding RNA, and ceRNA, are summarized, in the context of human diseases. This book discusses bioinformatics methods for epigenetic analysis specifically applied to human conditions such as aging, atherosclerosis, diabetes mellitus, schizophrenia, bipolar disorder, Alzheimer disease, Parkinson disease, liver and autoimmune disorders, and reproductive and respiratory diseases. Additionally, different organ cancers, such as breast, lung, and colon, are discussed. This book is a valuable source for graduate students and researchers in genetics and bioinformatics, and several biomedical field members interested in applying computational epigenetics in their research.

New advances in genetics have dramatically expanded our ability to avoid, prevent, diagnose, and treat a wide range of disorders. Now, more than ever, families need to know about these new discoveries, especially as there are some 7,000 rare genetic diseases that afflict about 1 in 12 of us. In Your Genes, Your Health, Aubrey Milunsky provides an invaluable and authoritative guide to what you should know about your genes. Illustrated with poignant family histories that underscore the lifesaving importance of knowing one's family medical history and ethnic origin, the book highlights the importance of recognizing seemingly unrelated disorders in a family as due to the same gene mutation and it outlines the key genetic tests needed for diagnosis, detection of carriers, and prenatal diagnosis. Many genetic disorders are discussed including cancer, heart disease, autism, mental illness, birth defects, neurologic disorders, diabetes, obesity and much more. The message of this book is clear--know your family history, be cognizant of your ethnic origins, seek appropriate consultations, and opt for meaningful genetic tests. Recognition of your risk(s) enables prompt preemptive action. By knowing your genes, you may save your life and the lives of those you love.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

This book argues that despite the many real advantages that industrial modernity has yielded-including large gains in wealth, longevity, and (possibly) happiness-it has occurred together with the appearance of a variety of serious problems. Chief among these are probable losses in subjective existential purpose and increases in psychopathology. A highly original theory of the ultimate basis of these trends is advanced, which unites prior work in psychometrics and evolutionary science. This theory builds on the social epistasis amplification model to argue that genetic and epigenetic changes in modernizing and modernized populations, stemming from shifts in selective pressures related to industrialization, have lowered human fitness and wellness.

This book brings together many of the main conclusions of the European Concerted Action Programme on Genetic Hearing Impairment (HEAR). It is spilt into four sections, covering definitions, protocols, genotype/phenotype relationships and important websites.The section on definitions enables all those approaching the problems of Genetic Hearing Impairment from different backgrounds to communicate in the same language and understand what each is doing more clearly. The definitions are of Audiological, Vestibulogical, Epidemiological and Genetic terms, together with specific terms associated with particular craniofacial abnormalities.

The second section comprises protocols for the minimal set investigation of patients and their family members with genetic hearing impairment. Relatively little work has been done in the past on the balance of disorders which may be associated with Genetic Hearing Impairment and a protocol aiming to elucidate some of these factors in a relevant way has been defined. The final chapter in this section deals with how audiologists should relate to genetic laboratories in an attempt to reduce the confusion which has risen in this field in the past.

The third section is concerned with the relationship between genotypes and phenotypes in non-syndromal hearing impairment in the conditions in which the genes have so far been localised and in many cases identified.

The final section deals with the important websites within this field. The most important and the most visited is the Hereditary Hearing Loss website based on Antwerp and managed by Guy Van Camp and Richard Smith.

This informative new book presents an accessible account of the development of medical genetics over the past 70 years, one of the most important areas of 20th, and now 21st, century science and medicine. Based largely on the author's personal involvement and career as a leader in the field over the last half century, both in the UK and internationally, it draws on his interest and involvement in documenting the history of medical genetics. Underpinning the content is a unique series of 100 recorded interviews undertaken by the author with key older workers in the field, the majority British, providing invaluable information going back to the very beginnings of human and medical genetics. Focusing principally on medically relevant areas of genetics rather than the underlying basic science and technological aspects, the book offers a fascinating insight for those working and training in the field of clinical or laboratory aspects of medical genetics, genomics and allied areas; it will also be of interest to historians of science and medicine and to workers in the social sciences who are increasingly attracted by the social and ethical challenges posed by modern medical genetics and genomics.

Spannende Einblicke in die Entdeckung der Doppelhelix Eine der bekanntesten Entdeckungen des 20. Jahrhunderts, die die Biologie grundlegend verandert hat, wird im Detail beschrieben Einfuhrung in die Geschichte der experimentellen Lebenswissenschaften in der ersten Halfte des 20. Jahrhunderts

An authoritative collection of recent breakthroughs in Parkinson's Disease (PD) research, Parkinson's Disease: Genetics and Pathogenesis spans key findings on the mechanisms of neurodegeneration and the role of specific genes that may lead to improved therapies for PD. The book reviews the major aspects of the disease including motoric and pathologic features, autonomic dysfunction, sleep disorders, and neuropsychiatric manifestations. It also provides an in-depth review of genetic considerations. With contributions by recognized experts on the topic, emphasis is placed on pathogenesis, experimental models, future therapeutic opportunities, and research trends affecting the field.

Research into the field of stem cell biology has developed exponentially over recent years, and is beginning to offer significant promise for unravelling the molecular basis of a multitude of disease states. Importantly, in addition to offering the opportunity to delve deeply into the mechanisms that drive disease aetiology the research is realistically opening the doors for development of targeted and personalized therapeutic applications that many considered, until recently, to be nothing more that a far fetched dream. This volume provides a timely glimpse into the methods that have been developed to instigate, and the mechanisms that have been identified to drive, the process of nuclear reprogramming, chronicling how the field has developed over the last 50-60 years. Since the early 1950s a small number of notable experiments have provided significant impetus to the field, primarily the demonstration of reprogramming ability, first by the complex cytoplasmic milieu that constitutes the amphibian egg, then that of the mammalian egg, and finally that of the mammalian embryonic stem cell. Most recently, the demonstration that a limited pool of defined molecules is capable of reprogramming a multitude of cell types has provided massive impetus and facilitated transition towards realistic therapeutic application. We have therefore reproduced some of the key articles that elegantly document these dramatic stages of development of the field in an inclusive appendix to the book, for the benefit of readers keen to investigate the history of how the field of stem cell biology has evolved. Owing to the ever broadening nature of this field, and the incredible rate at which it is evolving, the main content of this volume focuses on areas that have shown significant movement in recent years, are most likely to translate into personalized therapeutic application, and thus provide greatest potential for significant impact on human health in the not too distant future. We recognize that research into many other disease states and cell types are all equally worthy of discussion. We would therefore like to acknowledge those researchers involved whose work we have not been able to include in this volume. Nuclear Reprogramming and Stem Cells will serve as a valuable resource for all researchers in the field of stem cell biology, including those just setting out on their career path as well as those already established in the field.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Recent insight into the transcripts generated from the mammalian genome (i.e. the transcriptome) has revealed that transcription is a far more complex phenomenon than previously thought. In RNA: Methods and Protocols, expert researchers provide the procedures and methods used to describe the structure of messenger RNAs and non-coding RNAs that are transcribed by RNA polymerase II as the immediate gene products in mammalian cells. Focused on the structure of the RNA products of "gene X" and the mapping of proteins associated with these RNAs, the volume presents appropriate information for non-specialists in RNA biology. Written in the highly successful Methods in Molecular Biology (TM) series format, many chapters contain 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. Comprehensive and practical, RNA: Methods and Protocols views the transcriptional landscape with an appreciation for the role that proteins play in the processing and interpretation of genetic information in an attempt to further our crucial knowledge of the many products and sophisticated regulatory networks that result from it.

Population Genetics of Multiple Loci F. B. Christiansen University of Aarhus, Denmark "This is a very beautiful and powerful study of an area that Christiansen has dominated for many years." - Marcus Feldman, Stanford University, USA Population genetics thrives on the constant interaction between theoretical and empirical knowledge. In the first instance, population genetics was developed using one-locus, two-allele models for genetic variation. The simplicity of these models opened up theoretical developments in population and evolutionary genetics to biologists without specialist training in mathematics. Population genetics of multi-allelic loci is more complex and requires more mathematical insight, and its study is predominantly undertaken by mathematical biologists. Traditional formulations of multi-locus theory do not simplify by assuming two alleles per locus. In this elegant presentation the author provides a formulation of multi-locus population genetics that retains the simplicity of two-allele models.
* Provides an accessible and natural extension of classical population genetics to multiple loci
* Exposes the population genetic aspects of sexual reproduction
* Describes the complexity of evolutionary interactions among genes
* Provides the background for insight into the functioning of genetic algorithms applied in computer science
* Written by a world leader in the field
The book is divided into two main sections. Part I - Recombination and Segregation - includes coverage of random mating, inbreeding, migration and mixing. Part II - Selection - covers numerous phenomena involving natural selection including viability, fertility, mutation andmigration. The author has successfully presented the theory in a way that is intelligible to anyone with a reasonably good background in basic mathematics and is devoted to learning multiple loci population genetics. The text is primarily aimed at advanced undergraduate and postgraduate students and researchers interested in genetics and population biology. It is also essential reading for those working or researching in biomathematics and adaptive computing.

Traditionally, genetics laboratory exercises at the university level focus on mono- and dihybrid crosses and phenotypic analysis-exercises under traditional time, materials, and process constraints. Lately, molecular techniques such as gene cloning, polymerase chain reactions (PCR), and bioinformatics are being included in many teaching laboratories-where affordable. Human chromosome analysis, when present at all, has often been restricted to simple identification of chromosomes by number, through the usual "cut-and-paste" method. Although several online karyotyping (chromosome identification) programs have become available, they are not meaningful for studying the dynamics of the chromosome system, nor do they help students understand genetics as a discipline. The software that accompanies this book has been shown to be an ideal tool for learning about genetics, which requires a combination of understanding, conceptualization, and practical experience.

Next generation sequencing is revolutionizing molecular biology. Owing to this new technology it is now possible to carry out a panoply of experiments at an unprecedented low cost and high speed. These go from sequencing whole genomes, transcriptomes and small non-coding RNAs to description of methylated regions, identification protein - DNA interaction sites and detection of structural variation. The generation of gigabases of sequence information for each of this huge bandwidth of applications in just a few days makes the development of bioinformatics applications for next generation sequencing data analysis as urgent as challenging.

Caveolins are important structural proteins of Caveolae, small invaginations of the membrane. They have been shown to play an important role in the pathogenesis of multiple cancers. In this volume, we will mainly focus on the importance of Caveolin-1 in breast, prostate, lung, skin, colon, pancreatic and brain cancers with also a mention of the novel role of Caveolin-3 in breast cancer.

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

This book combines sex, race, health and genetics in a daring new theory. Written with accessible, direct prose, anecdotes, analogies, and examples from human and animal studies, it is sure to spark debate in a massive way.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.