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This fourth volume in the series Advances in Vision Research describes importance advancements in basics to translational research, including new therapeutics for genetic eye diseases. Recent US FDA approval of the first gene therapy for an inherited retinal disease, due to a mutation in the RPE65 gene, has led to an upsurge in translational eye research. The coverage in this volume includes corneal diseases, myopia, cataract, glaucoma, inherited retinal diseases, inherited optic neuropathy, and other genetic eye diseases. New developments such as the application of artificial intelligence in translational eye research are also discussed. All chapters are written by leading researchers working on eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume IV will be a major resource for all researchers, clinicians, clinical researchers, andallied eye health professionals with an interest in eye diseases around the globe. The first two volumes in the series described the state of the art in genetic eye research in Asia and the Pacific while the third focused on progress in Europe and the United States.

••Selected for Doody's Core Titles® 2024 in Clinical Genetics••Epigenetics in Organ Specific Disorders, a new volume in the Translational Epigenetics series, provides a foundational overview and nuanced analysis of epigenetic gene regulation distinct to each organ type and organ specific disorders, fully elucidating the epigenetics pathways that promote and regulate disease. After a brief introduction, chapter authors compare epigenetic regulations across normal and disease conditions in different organ tissues, exploring similarities and contrasts. The role of epigenetic mechanisms in stem cells, cell-matrix interactions and cell proliferation, cell migration, cellular apoptosis, necrosis, pyknosis, tumor suppression, and immune responses across different organ types are examined in-depth.Organ specific epigenetic mechanisms and biomarkers of early use in developing drugs, which can selectively target the organ of interest, are also explored to enable new precision therapies. - Identifies unique epigenetic mechanisms that occur in normal and disease conditions in each organ, examining differences and similarities - Explores organ specific epigenetic mechanisms to enable drug discovery and development - Features chapter contributions from leading researchers in the field

Epigenetics in Human Disease, Third Edition examines the diseases and conditions on which we have advanced knowledge of epigenetic mechanisms, such as cancer, autoimmune disorders, aging, metabolic disorders, neurobiological disorders and cardiovascular disease. From molecular mechanisms and epigenetic technology to clinical translation of recent research, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics to therapeutic interventions for epigenetic-based disorders, with an emphasis throughout on understanding and application of key concepts in new research and clinical practice. Fully revised and up-to-date, this Third Edition discusses topics of current interest in epigenetic disease research, including stem cell epigenetic therapy, bioinformatic analysis of NGS data, epigenetic mechanisms of imprinting disorders, microRNA in cancer, epigenetic approaches to control obesity, epigenetics and airway disease, and epigenetics in cardiovascular disease. Further sections explore online epigenetic tools and datasets; early-life programming of epigenetics in age-related diseases; the epigenetics of addiction and suicide, and epigenetic approaches to regulating and preventing diabetes, cardiac disease, allergic disorders, Alzheimer's disease, respiratory diseases, and many other human maladies. In addition, each chapter now includes chapter summaries, definitions, and vibrant imagery and figures to reinforce understanding, as well as step-by-step methods and disease research case studies. - Includes contributions from leading international investigators involved in translational epigenetic research and therapeutic applications - Integrates methods and applications with fundamental chapters on epigenetics in human disease, along with an evaluation of recent clinical breakthroughs - Presents side-by-side coverage of the basis of epigenetic diseases and treatment pathways - Each chapter updated to include summaries, definitions, and vibrant imagery and figures to reinforce understanding - Features step-by-step methods and disease research case studies to put book concepts into practice

This book offers a comprehensive and detailed overview of various aspects of long non-coding RNAs. It discusses their emerging significance in molecular medicine, ranging from human cancers to cardiovascular and metabolic diseases. Transcriptomic studies have demonstrated that the majority of genomes found in complex organisms are expressed in highly dynamic and cell-specific patterns, producing huge numbers of intergenic, antisense and intronic long non-protein-coding RNAs (lncRNAs). Thousands of lncRNAs have been identified, and unlike mRNA, they have no protein-coding capacity. A large repertoire of ncRNAs, actively transcribed from the mammalian genome, control diverse cellular processes, both in terms of development and diseases, through a variety of gene regulatory mechanisms. IncRNAs have emerged as a new paradigm in epigenetic regulation of the genome. Given its scope, the book will be of particular interest to molecular, chemical, cell and developmental biologists, as well as specialists in translational medicine involved in disease-oriented research. It also offers a valuable resource for in silico experts seeking a deeper understanding of lncRNA expression and function through computational analysis of the NGS data.

This book gathers a selection of original articles and critical reviews presented at the 21st International Taurine Meeting, held in Shenyang, China in May 2018, which discussed and disseminated the latest findings on taurine, especially in human life. The book is divided into eight parts, which respectively address: Taurine and Metabolism, Taurine and Nutrition, Taurine and Organ Dysfunction, Taurine and Heart Health, Taurine and Anti-cancer, Taurine and Anti-oxidation / Anti-microbial, Taurine and Neuroprotection, and Taurine and Anti-inflammatory. These latest discoveries concerning the functions and advantageous effects of taurine on the health of various human body systems will not only advance the treatment of human diseases and the quality of human life, but also promote further research into the applications of taurine in human health.

This multivolume reference work addresses the fact that the well being of humankind is predicated not only on individuals receiving adequate nutrition but also on their genetic makeup. The work includes more than 100 chapters organized in the following major sections: Introduction and Overview; Epigenetics of Organs and Diseases in Relation to Diet and Nutrition; Detailed Processes in Epigenetics of Diet and Nutrition; Modulating Epigenetics with Diet and Nutrition; and Practical Techniques. While it is well known that genes may encode proteins responsible for structural and dynamic components, there is an increasing body of evidence to suggest that nutrition itself may alter the way in which genes are expressed via the process of epigenetics. This is where chemically imposed alteration in the DNA sequence occurs or where the functional expression of DNA is modulated. This may include changes in DNA methylation, non-coding RNA, chromatin, histone acetylation or methylation, and genomic imprinting. Knowledge regarding the number of dietary components that impact on epigenetic processes is increasing almost daily. Marshalling all the information on the complex relationships between diet, nutrition, and epigenetic processes is somewhat difficult due to the wide myriad of material. It is for this reason that the present work has been compiled.

This book will contain the proceedings of the XV International Symposium on Retinal Degeneration (RD2012). A majority of those who will speak and present posters at the meeting will contribute to this volume. The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 70. The RD Symposium will focus on the exciting new developments aimed at understanding these diseases and providing therapies for them. Since most major scientists in the field of retinal degenerations attend the biennial RD Symposia, they are known by most as the “best” and “most important” meetings in the field. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy. While advances in these areas of retinal degenerations will be described, there will be many new topics that either were in their infancy or did not exist at the time of the last RD Symposium, RD2010. These include the role of inflammation and immunity, as well as other basic mechanisms, in age-related macular degeneration, several new aspects of gene therapy, and revolutionary new imaging and functional testing that will have a huge impact on the diagnosis and following the course of retinal degenerations, as well as to provide new quantitative endpoints for clinical trials. The retina is an approachable part of the central nervous system (CNS), and there is a major interest in neuroprotective and gene therapy for CNS diseases andneurodegenerations, in general. It should be noted that with successful and exciting initial clinical trials in neuroprotective and gene therapy, including the restoration of sight in blind children, the retinal degeneration therapies are leading the way towards new therapeutic measures for neurodegenerations of the CNS. Many of the successes recently reported in these areas of retinal degeneration sprang from collaborations established at previous RD Symposia, and many of those will be reported at the RD2010 meeting and included in the proposed volume. We anticipate the excitement of those working in the field and those afflicted with retinal degenerations will be reflected in the volume.

The body of knowledge in most medical specialties is rapidly expanding, making it virtually impossible to follow all advances in clinical and basic sciences that are relevant to a given field. This is particularly true in pediatric endocrinology, at the cross-road of pediatrics, endocrinology, development and genetics. Providing abstracts of articles that report the year's breakthrough developments in the basic sciences and evidence-based new knowledge in clinical research and clinical practice that are relevant to the field, the ‘Yearbook of Pediatric Endocrinology 2013'keeps busy clinicians and scientists, pediatric endocrinologists, and also pediatricians and endocrinologists informed on new advances. Twelve Associate Editors and their co-authors selected from several thousand papers those that brought the most meaningful new information, summarized them and provided comments to put them into perspective. The papers are classified into those that identify new genes involved in diseases, new hormones, concepts revised or re-centered, important observations for clinical practice, large-scale clinical trials, new mechanisms, new paradigms, important review articles, new fears and new hopes. Because the Yearbook is endorsed by the European Society for Paediatric Endocrinology (ESPE), its publication is linked to the annual meeting of the ESPE. The ‘Yearbook of Pediatric Endocrinology 2013'covers the medical and scientific literature from June 2012 through May 2013.

This book will contain the proceedings of the XIV International Symposium on Retinal Degeneration (RD2010), held July 13-17, 2010, in Mont-Tremblant, Quebec, Canada. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.