After sequencing the human genome a decade ago, researchers have continued their projects, but now to try to better understand how, and when, genes are expressed in health and disease. Efforts have been concentrated on the measurement of the expression of RNA transcripts. In an analogy to the genome, the term "transcriptome" was created to refer to the complete set of RNAs in a cell type or tissue in a particular situation. Transcriptomics is the science that studies this issue and it is a branch of functional genomics. Transcriptomics in Heath and Disease provides a comprehensive overview of the science of transcriptomics initially in health, focusing on the concept of the transcriptome and the main methods to evaluate it. The authors discuss the concept and use of gene expression signatures and transcriptional biomarkers in normal development and diseased tissues and organs. As the transcriptome changes depending on the pathology, there is also a focus on the variations in the gene expression in different diseases such as autoimmune, inflammation, cancer and infections. This book should be very useful for researchers in molecular biology focusing on gene expression, human genetics, immunology, and genomics.

Now in a revised second edition, Nutrigenomics and Proteomics in Health and Disease brings together the very latest science based upon nutrigenomics and proteomics in food and health. Coverage includes many important nutraceuticals and their impact on gene interaction and health. Authored by an international team of multidisciplinary researchers, this book acquaints food and nutrition professionals with these new fields of nutrition research and conveys the state of the science to date. Thoroughly updated to reflect the most current developments in the field, the second edition includes six new chapters covering gut health and the personal microbiome; gut microbe-derived bioactive metabolites; proteomics and peptidomics in nutrition; gene selection for nutrigenomic studies; gene-nutrient network analysis, and nutrigenomics to nutritional systems biology. An additional five chapters have also been significantly remodelled. The new text includes a rethinking of in vitro and in vivo models with regard to their translatability into human phenotypes, and normative science methods and approaches have been complemented by more comprehensive systems biology-based investigations, deploying a multitude of omic platforms in an integrated fashion. Innovative tools and methods for statistical treatment and biological network analysis are also now included.

The study of transcriptomics is key to understanding complex diseases. This new edition will build on the foundation of the first edition while incorporating the progress that has been made in the field of transcriptomics in the past six years, including bioinformatics for data analysis. Written by leading experts, chapters address new subjects such as methodological advances in large-scale sequencing, the sequencing of single-cells, and spatial transcriptomics. The new edition will address how transcriptomics may be used in combination with genetic strategies to identify causative genes in monogenic and complex genetic diseases. Coverage will also explore transcriptomics in challenging groups of diseases, such as cancer, inflammation, bacterial infection, and autoimmune diseases. The updated volume will be useful for geneticists, genome biologists, biomedical researchers, molecular biologists, bioinformaticians, and students, among others.

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. - Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management - Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study - Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management - Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Functional foods and nutraceuticals have received considerable interest in the past decade largely due to increasing consumer awareness of the health benefits associated with food. Diet in human health is no longer a matter of simple nutrition: consumers are more proactive and increasingly interested in the health benefits of functional foods and their role in the prevention of illness and chronic conditions. This, combined with an aging population that focuses not only on longevity but also quality of life, has created a market for functional foods and nutraceuticals. A fully updated and revised second edition, Genomics, Proteomics and Metabolomics in Nutraceuticals and Functional Foods reflects the recent upsurge in "omics" technologies and features 48 chapters that cover topics including genomics, proteomics, metabolomics, epigenetics, peptidomics, nutrigenomics and human health, transcriptomics, nutriethics and nanotechnology. This cutting-edge volume, written by a panel of experts from around the globe reviews the latest developments in the field with an emphasis on the application of these novel technologies to functional foods and nutraceuticals.