Search

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 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 sequencing, public health genetics, and genetic counseling. Volumes 3–11 cover diagnosis, management, and treatment of both rare and common disorders in all organ systems. Students, medical providers, and researchers all benefit from the latest information about the role of the genome in health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals across the full spectrum of applications to medicine. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to endocrine, skin, connective tissue and skeletal disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies. 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 genomics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. - Thoroughly introduces genetic researchers, students, and healthcare professionals to the genetic and genomic bases of endocrinologic, dermatologic, connective tissue, and skeletal disorders - Includes color images supporting identification, concept illustration, and method processing - Features contributions by leading international researchers and specialist medical practitioners

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.

This manual covers all possible aspects of managing a child with differences in sex development, an entity easily missed by the unsuspecting clinician. Managing such children is challenging due to various processes (genetic, hormonal, environmental, chromosomal, and environmental) involved in developing gonads and brain imprinting. The entity of Gender dysphoria adds further to this complexity. With a global uproar caused by the cropping up of medicolegal issues concerning sex allotment and sex of rearing, a need is felt to know about the line of approach to address the problems of management of these children, which does not stop at medical and surgical treatment. Whereas many social and legal organizations are relentlessly working for the cause of such children, there is a lack of comprehensive literature on the round management of such children, which makes the book more of an essential addition to the existing reading material. Esteemed writers give all these aspects and explain lucidly with the help of tables, figures, and diagrams.

This book discusses the different regulatory pathways for Advanced Therapy Medicinal Products implemented by national agencies in North and South America, Europe and Asia and by international bodies in the effort of international harmonization.This book represents an update of the first edition, as it covers regulatory novelties and accumulated experience in the regions already addressed. In addition, this new edition offers a wider international perspective: new chapters are included covering Advanced Therapy Medicinal Products regulations in India, Malaysia, Spain and Thailand, the European Pharmacopoeia texts for gene therapy medicinal products as well as international harmonization programs. Each chapter, authored by experts from various regulatory bodies throughout the international community, walks the reader through the applications of nonclinical research to translational clinical research to licensure and therapeutic use of these innovative products. More specifically, each chapter offers insights into fundamental considerations that are essential for developers of Advanced Therapy Medicinal Products in the areas of product quality, pharmacology and toxicology, clinical trial design and HTA pathways, as well as pertinent ‘must-know'guidelines and regulations. Regulatory Aspects of Gene Therapy and Cell Therapy Products: a Global Perspective is part of the American Society of Gene & Cell Therapy sub-series of the highly successful Advances in Experimental Medicine and Biology series. It is essential reading for graduate students, clinicians, and researchers interested in gene and cell therapy and the regulation of pharmaceuticals.

Cancer is a major public health concern and one of the leading causes of death. There is no simple solution for this complex disease, therefore interdisciplinary approaches might help to find solutions to many unanswered questions and challenges about cancer. The rapid flow of interdisciplinary research in cancer during recent years has increased our understanding of the nature of cancers. Such interdisciplinary approaches could be helpful for both the diagnosis and the development of more effective therapeutic strategies.The “Interdisciplinary Cancer Research” series publishes comprehensive volumes on different cancers and presents the most updated and peer-reviewed articles on human cancers. Over the past decade, increased cancer research has greatly improved our understanding of the nature of cancerous cells which has led to the development of more effective therapeutic strategies to treat cancers. This interdisciplinary series is of special value to researchers and practitioners working on cell biology, immunology, hematology, biochemistry, genetics, oncology and related fields. This is the main concept of Cancer Immunology Project (CIP), which is a part of Universal Scientific Education and Research Network (USERN).

This book, now in an extensively revised second edition, provides a comprehensive summary of the latest knowledge regarding glycosignals and a thorough analysis of their involvement in not only cancers but also other refractory conditions such as chronic inflammatory disorders. Many relevant topics are covered, including the search for novel tumor epitopes related to carbohydrates, the assembly of glycoconjugates, the modulation of signaling pathways by glycosylation, and interactions between complex carbohydrates and their recognition molecules. The role of various research approaches, for example advanced mass spectrometry, high-resolution imaging, and bioinformatics, is closely examined, and the results of novel therapeutic trials targeting glycosignals are discussed. The book will be essential reading for students and young researchers with an interest in glycoscience. In presenting new results and approaches and identifying areas for future research, it will also be of benefitfor specialists in the field.

This book focuses on the current status of our understanding of RNA, a key biological molecule. The various RNAs covered are messenger RNA, ribosomal RNA, transfer RNA, noncoding RNAs, modified nucleosides, and RNA enzymes. The different chapters detail methods to investigate RNA structure and function, the chemistry of modified RNAs, and the latest advances in our understanding of the vast array of biological processes in which RNA is involved.RNA, in one form or another, touches almost everything in a cell. RNA has both structural and catalytic properties. RNA fulfills a broad range of functions. These molecules are no longer seen as passive elements transferring the genetic information from DNA into proteins but regulate the activity of genes during development, cellular differentiation, and changing environments. RNAs are involved in various aspects of cell physiology and disease development. Discoveries of RNA with unexpected diverse functions in healthy and diseased cells,such as the role of RNA as both the source and countermeasure to cancer or severe viral infection, stimulate new trends, passion, and solutions for molecular medicine.In this book, fundamental questions about the biochemical and genetic importance of RNA, how mRNAs are generated and used to produce proteins, how noncoding and catalytic RNAs mediate key cellular processes, how to determine RNA structure and how to apply RNA in treatment of diseases.This book is an essential resource for researches in academia and industry contributing to the development of new RNA therapeutics. The book is geared toward scientists from the graduate level on up and particularly appeals to active investigators in RNA biology, molecular biology, and biochemistry.

This book presents a major research program on epigenetic mechanisms of cell programming and reprogramming. The program was launched by the National Natural Science Foundation of China during the 11th Five-Year Plan period, which was started in October 2008 and concluded at the end of 2016. It first summarizes the epigenetic research plans and the current situation of epigenetic research in China and the international frontier. With the application of interdisciplinary research methods, the book discusses the development trends of epigenetic research, such as mechanisms of establishment and maintenance of epigenetic information and epigenetic regulation on reproduction and development. It also presents a variety of research achievements. For example, the discovery of new epigenetic regulators and chromatin remodulaters and their biological functions and mechanisms are highlighted. Several regulation mechanisms of cell differentiation and trans-differentiation are discussed, especially the discovery of the key factors to promote the trans-differentiation of somatic cells to hepatocytes. In addition, this book puts forward some key academic fields with increasing importance, such as biochemistry, cell biology, and clinical medicine. Given its scope, the book is of interest to researchers who work in cell biology, biochemistry, structural biology, bioinformatics, clinical medicine, and other related fields.

This book explores the importance of Single Nucleotide Polymorphisms (SNPs) in biomedical research. As SNP technologies have evolved from labor intensive, expensive, time-consuming processes to relatively inexpensive methods, SNP discovery has exploded. In terms of human biology, this research, particularly since the completion of the Human Genome Project, has provided a detailed understanding of evolutionary forces that have generated SNPs. It also has shown how SNPs shape human variation. The ability to inexpensively generate and analyze vast amounts of genetic data is poised to transform our understanding of human evolution and biology. “Single Nucleotide Polymorphisms” covers a broad survey of SNPs and their classification into synonymous and non-synonymous; the role of SNPs in human disease; case studies providing specific examples of synonymous and non-synonymous SNPs associated with human diseases or affecting therapeutic interventions; mechanisms by which synonymous mutations affect protein levels or protein folding which affect human physiology and response to therapy; and the role of SNPs in personalized medicine. Understanding what SNPs are, how they have been shaped is necessary for an increasingly expanding audience. This research will revolutionize the future of medicine. Chapter 4 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com. SNPs Ability to Influence Disease Risk: Breaking the Silence on Synonymous Mutations in Cancer'is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

This 2nd edition of the book on DNA methyltransferases has been comprehensively updated to reflect many novel research findings regarding the structure, function, and technology of these enzymes that have emerged over the past 6 years.Like the previous edition, this 2nd edition explains the biochemical properties of DNA methyltransferases, describing their structures, mechanisms and biological roles in bacteria, humans and plants. It also discusses the biological processes of reading DNA methylation and the mechanisms of DNA demethylation. This volume highlights the newest findings on DNA methyltransferase inhibitors and their use in cancer therapy as well as the latest epigenome editing systems based on these enzymes. Overall, this 2nd edition comprehensively summarizes the current state of research in the field of DNA methylation and DNA methyltransferase and is essential reading for early career and advanced researchers in this exciting field.

This comprehensive, up-to-date reference work compiles the scientific research on the relationship between various forms of cancer and reactive oxygen species (ROS). It is well known that ROS play a key role in the various steps leading to malignancy, this includes increase in DNA mutation rates. The book brings together exciting reviews, written by leading experts all over the world. The book is divided into four broad sections. Each section describes the role of oxidative stress and underlying mechanisms and pathways, at various stages of cancer, including its role in carcinogenesis, cancer progression and metastasis. Further, the book describes how the reactive oxygen species (ROS) modulate gene expression and signal transduction pathways in cancer. The book discusses the ways to interfere with the cancer progression, and design of anti-cancer drugs. The book provides an integrated approach for better understanding of the development phases of oxidative stress-induced cancers, and mainly the current perspectives about mechanistic aspects of cancer initiation, progression and metastasis. It is a highly resourceful book and would be extremely important to clinicians, students and researchers in the field of cancer genetics, therapeutics and oncology.