Progress in molecular and cellular biology has greatly enhanced our ability to accurately diagnose diseases that are caused by gene mutations, changes in genome structures, and altered gene expression; increased emphasis is now placed on translational research the clinical treatment of these genetically determined diseases. Seeking Cures outlines the progress and implications of science's quest to identify therapeutic targets and initiate novel treatments at the gene, RNA, protein, and physiological levels. Also considered are aspects of treatment at the cellular level (e.g., those with hematopoietic stem cells or induced pluripotent stem cells). Topics covered in this text include: * outline of the processes typical for identifying disease-modifying therapies * examples of newer therapeutic approaches in use or under investigation to treat lysosomal storage diseases, inborn errors of metabolism, mitochondrial functional defects, and specific monogenic diseases * therapeutic designs for specific complex common diseases, including Alzheimer's disease, cancer, and autism Through these specific examples, Seeking Cures provides a glimpse at the pursuit-and future-of personalized medicine.

The book presents a comprehensive and up-to-date overview of phytochemicals as efficient cancer therapeutics. Over the last few decades there has been a paradigm shift from conventional cancer therapeutic approaches to alternative and complementary medicinal approaches especially using phytoconstituents from natural products. As such, the book provides an in-depth understanding of phytochemicals targeting diverse signaling pathways involved in cancer along with the evaluation of the cancer modulatory effects of phytochemicals. It also highlights the potential modulatory effect of single nucleotide polymorphisms (SNPs) on the cancer-associated cellular pathways and their interactions with the phytochemicals. Further, it analyzes the drug delivery methods, bioavailability of active components of botanicals, and toxicity of phytochemicals. Lastly, the book elucidates the 3D cell culture and animal models systems to analyze the beneficial effects of phytochemicals in cancer.

The 4th World Congress on Genetics, Geriatrics and Neurodegenerative Diseases Research (GeNeDis 2020) focuses on the latest major challenges in scientific research, new drug targets, the development of novel biomarkers, new imaging techniques, novel protocols for early diagnosis of neurodegenerative diseases, and several other scientific advances, with the aim of better, safer, and healthier aging. The increase in the average length of life leads to the development of various diseases in the elderly population. This volume focuses on the sessions from the conference on Geriatrics.

Epigenetics is the study of changes in gene expression caused by mechanisms other than changes in the DNA sequence. Epigenetics is a rapidly advancing field with an increasing impact on biological and medical research. The editors of this book have assembled top-quality scientists from diverse fields of epigenetics to produce a major new volume. Comprehensive and cutting-edge, the 26 chapters in this book constitute a key reference manual for everyone involved in epigenetics, DNA methylation, cancer epigenetics, and related fields. Topics include: early life environment * DNA methylation and behavior * histone acetyltransferase biology * transgenerational epigenetic inheritance * mammalian X inactivation * epigenetic memory in plants * polycomb-group regulation * centromeres and telomeres * DNA sequence contribution to nucleosome distribution * macrosatellite epigenetics * histones * cell-fate specification and reprogramming * DNA methylation in cancer * variant histone H2A and cancer development * RNA modification * paramutation in plants * DNMT3L dependent methylation during gametogenesis * non-coding RNA * bisulphite-enabled technologies * rapid analysis of DNA methylation * microarray mapping * DNA methylation profiling * ChIP-sequencing * genome-wide DNA methylation analysis * epigenetics in maize. In addition there are useful chapters on bioinformatics in epigenomics, online resources and tools for epigeneticists, and educational resources for epigenetics. This up-to-date reference manual is an essential book for those working in the field and for scientists in other disciplines. It represents a major information resource on the fascinating and fast-moving field of epigenetics.

This book comprehensively summarizes the biology, etiology, and pathology of ovarian cancer and explores the role of deep molecular and cellular profiling in the advancement of precision medicine. The initial chapter discusses our current understanding of the origin, development, progression and tumorigenesis of ovarian cancer. In turn, the book highlights the development of resistance, disease occurrence, and poor prognosis that are the hallmarks of ovarian cancer. The book then reviews the role of deep molecular and cellular profiling to overcome challenges that are associated with the treatment of ovarian cancer. It explores the use of genome-wide association analysis to identify genetic variants for the evaluation of ovarian carcinoma risk and prognostic prediction. Lastly, it highlights various diagnostic and prognostic ovarian cancer biomarkers for the development of molecular-targeted therapy.

This open access book focuses on the discrepancies in biobank research regulations that are among the most significant hurdles to effective research collaboration. The General Data Protection Regulation (GDPR) has established stringent requirements for the processing of health and genetic data, while simultaneously allowing considerable multi-level exceptions for the purposes of scientific research. In addition to directly applicable exceptions, the GDPR places the regulatory responsibility for further defining how the Member States strike a balance between the individuals' rights and the public interest in research within their national legal orders. Since Member States' approaches to the trade-off between data subjects' rights on the one hand, and appropriate safeguards on the other, differ according to their ethical and legal traditions, their data protection requirements for research also differ considerably. This study takes a comprehensive approach to determine how the GDPR affects regulatory regimes on the use of personal data in biobanking research, with a particular focus on the balance between individuals' rights, public interest and scientific research. In this regard, it has two main goals: first, to scrutinize the GDPR research regime, its objective and constitutive elements, the impact it has on biobanking, and its role in a changing EU landscape post-Brexit; and second, to examine how various exceptions have been operationalized nationally, and what challenges and opportunities this diversification entails. The book not only captures the complexity GDPR creates for biobanking, but also sheds light on various approaches to tackling the corresponding challenges. It offers the first comprehensive analysis of GDPR for biobanking, and the most up-to-date overview of the national biobank regulatory frameworks in Europe.

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.

Although the phenomenon of lateral gene transfer has been known since the 1940's, it was the genomics era that has really revealed the extent and many facets of this evolutionary/genetic phenomenon. Even in the early 2000s with but a handful of genomes available it became clear that the nature of microorganisms is full of genetic exchange between lineages that are sometimes far apart. The years following this saw an explosion of genomic data, which shook the "tree of life" and also raised doubts about the most appropriate species concepts for prokaryotes. This book attempts to represent the many-fold contributions of LGT to the evolution of micro and, to an extent, macro-organisms by focusing on the areas where the Editor felt it had the largest impact: metabolic innovations and adaptations and speciation.

This book reviews the latest developments in the design, synthesis, and molecular mechanism of action of Histone Deacetylase (HDAC) inhibitors in the context of potential cancer therapy. HDAC inhibitors are emerging as promising anticancer drug molecules that promote growth arrest, differentiation and apoptosis of cancer cells with tumor selective toxicity. The book begins with an overview of various epigenetic modifying enzymes that are involved in cancer transition and progression; before exploring the potential of HDACs in cancer treatment. It provides a classification of HDAC inhibitors based on their structural attributes, and addresses HDAC-induced cytotoxicity.. Lastly, it discusses and assesses the rationale behind therapies that combine HDAC inhibitors with other anticancer agents to treat solid tumors. Given its scope, it offers a valuable resource for all researchers, clinicians, and students working in formulation, drug discovery, oncology, and personalized medicine.

This book reviews the recent research into biological aspects of suicide behavior and outlines each of the varied, recent approaches to prevent suicide. Suicidal behavior, perhaps, is the most complex behavior that combines biological, social, and psychological factors. A new frontier and new opportunities are opening with the technologies of data acquisition and data analysis. Personalized models based on digital phenotype could provide promising strategies for preventing suicide.

Translational Systems Medicine and Oral Disease bridges the gap between discovery science and clinical oral medicine, providing opportunities for both the scientific and clinical communities to understand how to apply recent findings in cell biology, genomic profiling, and systems medicine to favorably impact the diagnosis, treatment and management of oral diseases. Fully illustrated chapters from leading international contributors explore clinical applications of genomics, proteomics, metabolomics, microbiomics and epigenetics, as well as analytic methods and functional omics in oral medicine. Disease specific chapters detail systems approaches to periodontal disease, salivary gland diseases, oral cancer, bone disease, and autoimmune disease, among others. In addition, the book emphasizes biological synergisms across disciplines and their translational impact for clinicians, researchers and students in the fields of dentistry, dermatology, gastroenterology, otolaryngology, oncology and primary care.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions.

This book reviews recent advances in the emerging field of computational network biology with special emphasis on comparative network analysis and network module detection. The chapters in this volume are contributed by leading international researchers in computational network biology and offer in-depth insight on the latest techniques in network alignment, network clustering, and network module detection. Chapters discuss the advantages of the respective techniques and present the current challenges and open problems in the field. Recent Advances in Biological Network Analysis: Comparative Network Analysis and Network Module Detection will serve as a great resource for graduate students, academics, and researchers who are currently working in areas relevant to computational network biology or wish to learn more about the field. Data scientists whose work involves the analysis of graphs, networks, and other types of data with topological structure or relations can also benefit from the book's insights.

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.

This thesis demonstrates a technology that enables pipetting-free high-throughput screening (HTS) on a miniaturized platform, eliminating the need for thousands of one-by-one pipetting and conventional liquid handling systems. This platform enhances accessibility to HTS and enables HTS to be used in small-to-medium scale laboratories. In addition, it allows large-scale combinatorial screening with a small number of valuable cells, such as patients' primary cancer cells. This technique will have a high impact for widespread use of HTS in the era of personalized medicine. In this thesis, the author firstly describes the need and concept of 'partipetting' for pipetting-free HTS platform. It is realized by the one-step pipetting and self-assembly of encoded drug-laden microparticles (DLPs) on the microwells. Next, the technical implementations required for the platform demonstration are described. It includes preparation of encoded DLPs, plastic chip fabrication, and realization of automated system. Lastly, screening of sequential drug combinations using this platform is demonstrated. This shows the potential of the proposed technology for various applications.

Obesity and diabetes develop as a complex result of genetic, metabolic and environmental factors and are characterized by increased lipogenesis and lipid accumulation in many tissues. Stearoyl-CoA desaturase (SCD) genes are a critical regulator of lipogenesis and catalyzes the synthesis of monounsaturated fatty acids (MUFA), mainly oleoyl- (18:1n9) and palmitoleoyl-CoA (16:1n7). These MUFAs are the major fatty acid substrates for the synthesis of triglycerides, cholesterol esters, wax esters and membrane phospholipids. There are 4 SCD isoforms (SCD1-4) in mice and two (hSCD1 and hSCD5) expressed in humans. At first glance, stearoyl-CoA desaturase enzyme would be considered a housekeeping enzyme because it synthesizes oleate a well-known fatty acid that is abundant in many dietary sources. However numerous studies have shown that SCD is a very highly regulated enzyme that features in so many physiological processes ranging from fat differentiation, carbohydrate and fat metabolism, inflammation and cancer. The editor's studies using stearoyl-CoA desaturase knockout (SCD1-/-) mice and studies of other investigators using pharmacological approaches to reduce SCD1 expression in mouse tissues have all established that the expression of SCD1 gene isoform represents a key step in partitioning of lipids between storage and oxidation. High SCD expression favors fat storage leading to obesity while reduced SCD expression favors fat burning and leanness. Although these studies clearly illustrated that SCD1 expression is involved in the development of obesity and insulin resistance, questions remain in the elucidation of the mechanisms involved and role of SCD1. This book includes chapters by leading researchers on SCD Genes in the brain, heart, muscle, liver metabolism, Colitis, and more.

Transgenerational Epigenetics, Second Edition, offers the only up-to-date, comprehensive analysis of the inheritance of epigenetic phenomena between generations with an emphasis on human disease relevance, drug discovery, and next steps in clinical translation. International experts discuss mechanisms of epigenetic inheritance, its expression in animal and plant models, and how human ailments, such as metabolic disorders and cardiovascular disease are influenced by transgenerational epigenetic inheritance. Where evidence is sufficient, epigenetic clinical interventions are proposed that may help prevent or reduce the severity of disease before offspring are born. This edition has been thoroughly revised in each disease area, featuring newly researched actors in epigenetic regulation, including long noncoding RNA in addition to histone modifications and DNA methylation. Therapeutic pathways in treating cancer and extending human longevity are also considered, as are current debates and future directions for research.

miRNAs are a class of endogenous, small non-protein coding RNA molecules (~ 22 nucleotides) which are novel post-transcriptional regulators of gene expression. Since we have hundreds of miRNAs, the major challenge is now to understand their specific biological function. In fact the experimental evidence suggests that signaling pathways could be ideal candidates for miRNA-mediated regulation. Several studies suggest that miRNAs affect the responsiveness of cells to signaling molecules such as WNT, Notch, TGF- and EGFR. Altered expression of particular miRNAs has been implicated in the onset and development of cancer and could be used as potential biomarkers for the disease. Recently, many studies have found miRNAs have crucial regulatory roles in Cancer stem cells (CSCs) a kind of tumor initiating cells (TICs) and dormancy. Findings also suggest that DNA methylation may be important in regulating the expression of many miRNAs in several cancer initiating cells. Several miRNAs are known to either upregulated or downregulated in CSCs when compared to non-cancerous cells from the same tissues. CSCs are a small subpopulation of cells identified in a variety of tumors and involve in self-renewal, differentiation, chemoresistance and tumorigenesis. The volume will give a comprehensive account of important advancements in the area of miRNAs and cancer.

This detailed second edition volume expands upon the prior edition by addressing newly emerged technologies as well as improved existing protocols in nucleic acid delivery via nanotechnology. The book addresses topics ranging from chemical synthesis of macromolecules and bioconjugates, novel and established nanoformulations, characterization of these nanoformulations for biophysical, biological and toxicological aspects, and also protocols dealing with application and imaging of such carrier systems in vivo. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective chapters, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and up-to-date, Nanotechnology for Nucleic Acid Delivery: Methods and Protocols, Second Edition serves as an ideal guide to researchers seeking to use this vital area of study in their own lab work or to progress knowledge within the field itself.