Epigenetic Biomarkers and Diagnostics 2015

Epigenetic Biomarkers and Diagnostics 2015
by José Luis García-Giménez (Editor)

Epigenetics is an emerging frontier of biology, and its definition is continuously being adapted based on new scientific findings. In fact, the NIH Roadmap Epigenomics Project has recently defined epigenetics as “the heritable changes in gene activity and expression (in the progeny of cells or of individuals) and also stable, long-term alterations in the transcriptional potential of a cell that are not necessarily heritable.” In this regard, epigenetics includes DNA methylation, noncoding RNAs, and histone posttranslational modifications. This integrative definition of epigenetics reflects the potential of the discipline to expand beyond the control of a particular gene expression program for each cell type, defining the cellular and developmental identity and function of cells, and, finally, translating this potential to health and disease conditions in human beings.Due to the rapid progress in the field of epigenetics, new and promising methodologies to advance biomedical research are being developed. Epigenetic research and epigenetic pharmaceutical drug development are now considered areas of great interest and promise in the biomedical scene. The advantage of human epigenetics compared with human genetics and genomics is that it provides vital information about gene function in individual cell types, while incorporating information from the environment and lifestyle, and unlike most genetic defects causative of human disease, epigenetic alterations are modulable and reversible. The volume Epigenetic Biomarkers and Diagnosticsis intended to describe both epigenetic biomarkers that can be adopted into clinical routine as well as advanced technologies and tools for their analysis. In this regard, epigenetic biomarkers provide clinicians valuable information about the presence or absence of a disease ( diagnostic value), the patient prognosis (prognostic value), the response to a specific treatment (predictive value), the effects of ongoing treatment ( therapy-monitoring biomarkers), and the future risk of disease development (risk prediction). Furthermore, several advantages may arise from the use of epigenetic biomarkers versus gene expression in clinical practice, such as higher stability, for example, in biofluids. Theycan also fill clinical gaps by bridging genetic information, mRNA transcription, and protein translation. In consequence, the associations between epigenome alterations and diseases become clearer, providing a way to act directly on gene expression by developing specific drugs or even by adopting healthy lifestyles.


Many methodologies, including classical methods and next-generation-sequencing-based technologies, are available to clinicians and researchers to identify new epigenetic biomarkers and analyze them from several biological sources. In this context, genome-wide methylation analysis, chromatin immunoprecipitation coupled with high-throughput platforms, and noncoding RNA sequencing are described in this volume. Furthermore, some techniques for DNA methylation analysis are more likely to be rapidly adopted in clinical laboratories, such as EpiTYPER MassARRAY, methyl specific PCR (MSP), and pyrosequencing. On the other hand, immunoassays are well established in Preface xviclinical laboratories for the analysis of histones (i.e., inflammatory and autoimmune diseases). However, it is expected that the incorporation of mass spectrometry technologies into laboratories for clinical diagnostics (replacing routine immunoassays) will be the tendency in the coming years, as will be the analysis of histone posttranslational modifications associated with pathological states.
Although it is not possible to cover all epigenetic markers, this volume includes chapters describing the most promising biomarkers for cancer (i.e., breast, lung, colon, etc.), metabolic disorders (i.e., diabetes and obesity), autoimmune diseases, infertility, allergy, infectious diseases, and neurological disorders; and, wherepossible, we will focus our attention on those which are feasible to be adopted for clinical use.
This book was written in a comprehensive manner by outstanding experts in their corresponding fields for a broad target audience such as advanced students, basic scientists, biomedical and biotechnological companies, as well as clinical researchers, clinicians (i.e., pathologists, immunologists, oncologists, endocrinologists, etc.) and analysts from clinical laboratories who can adopt these potential biomarkers into clinical practice.
In the coming years, epigenetics will continue to provide an exciting future in biomedicine and clinical practice. The chapters covered in Epigenetic Biomarkers and Diagnosticshighlight the unprecedented impact of epigenetics in clinical diagnostics and will contribute to the discovery and development of new epigenetic biomarkers in the future

Epigenetic Biomarkers and Diagnostics comprises 31 chapters contributed by leading active researchers in basic and clinical epigenetics. The book begins with the basis of epigenetic mechanisms and descriptions of epigenetic biomarkers that can be used in clinical diagnostics and prognostics. It goes on to discuss classical methods and next generation sequencing-based technologies to discover and analyze epigenetic biomarkers. The book concludes with an account of DNA methylation, post-translational modifications and noncoding RNAs as the most promising biomarkers for cancer (i.e. breast, lung, colon, etc.), metabolic disorders (i.e. diabetes and obesity), autoimmune diseases, infertility, allergy, infectious diseases, and neurological disorders.

The book describes the challenging aspects of research in epigenetics, and current findings regarding new epigenetic elements and modifiers, providing guidance for researchers interested in the most advanced technologies and tested biomarkers to be used in the clinical diagnosis or prognosis of disease.

Focuses on recent progress in several areas of epigenetics, general concepts regarding epigenetics, and the future prospects of this discipline in clinical diagnostics and prognostics
Describes the importance of the quality of samples and clinical associated data, and also the ethical issues for epigenetic diagnostics
Discusses the advances in epigenomics technologies, including next-generation sequencing based tools and applications
Expounds on the utility of epigenetic biomarkers for diagnosis and prognosis of several diseases, highlighting the study of these biomarkers in cancer, cardiovascular and metabolic diseases, infertility, and infectious diseases
Includes a special section that discusses the relevance of biobanks in the maintenance of high quality biosamples and clinical-associated data, and the relevance of the ethical aspects in epigenetic studies

-Epigenetic Biomarkers: New Findings, Perspectives, and Future Directions in Diagnostics

Three major events are mainly involved in epigenetic regulation and chromatin structure control: DNA methylation, histone PTMs, and ncRNAs (i.e., microRNAs (miRNAs), long noncoding RNAs (lncRNAs)). Disruption of one or more of these epigenetic mechanisms can lead to inappropriate expression of genes, resulting in an alterated state of cell homeostasis or disease. In this regard, epigenetic-based biomarkers are an important new research area. With the potent technologies now available, diagnostic tools can be created to analyze these biomarkers and therefore contribute to the study of human diseases. Here, we summarize the three most relevant mechanisms and discuss the technologies available to analyze them

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