Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. 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, this updated 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.

The field of genetics is rapidly evolving, and new medical breakthroughs are occurring as a result of advances in our knowledge of genetics. Advances in Genetics continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines.

This new volume of Methods in Enzymology continues the legacy of this premier serial with quality chapters authored by leaders in the field. This volume covers computational prediction RNA structure and dynamics, including such topics as computational modeling of RNA secondary and tertiary structures, riboswitch dynamics, and ion-RNA, ligand-RNA and DNA-RNA interactions.

Clinical Applications of Immunogenetics: Immunogenetics: A Molecular and Clinical Overview, Volume II provides readers with an exclusive, updated overview of scientific knowledge, achievements and findings in the field of immunogenetics. In thirteen chapters, the book gives insights in new advancements and approaches in viral and autoimmune diseases. Specific chapters are dedicated to immunogenetic mechanisms in the treatment of immune disorders, cancer, neurological and neurodegenerative disorders. In addition, other chapters cover immunogenomics in precision medicine, clinical medicine and transplantation. Finally, a special chapter, COVID-19: A novel challenge to human immune-genetic machinery, updates on thoughts surrounding the pandemic.

The field of genetics is rapidly evolving, and new medical breakthroughs are occurring as a result of advances in our knowledge of genetics. Advances in Genetics continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines.

Risk Factors for Cerebrovascular Disease and Stroke address the relationship of a wide variety of vascular risk factors in the spectrum of cerebrovascular diseases. An international group of professionals the forefront of research and education, provide their expertise about environmental and genetic determinants for cerebrovascular disease and stroke. The authors aim to provide information on developments of genetic, environmental and lifestyle-related risk factors of various subtypes of stroke, and MRI-markers of cerebrovascular disease. One in 2 men, and 1 in 3 women after the age of 40, will develop a stroke in their lifetime. The burden of cerebrovascular disease extends far beyond that of acute clinical events such as stroke, with "covert " vascular injury on brain MRI being highly prevalent in older community-dwelling persons. Therefore, improving our understanding of the risk factors for stroke and cerebrovascular disease is of paramount importance for improving prevention strategies. Secular trends in stroke epidemiology, risk factors, and intermediate markers (including carotid ultrasound, brain MRI and circulating biomarkers) are presented. Cutting edge information on genetic, environmental and lifestyle-related risk factors of various subtypes of stroke and MRI-markers of cerebrovascular diseases are displayed. This important book is an essential reference to physicians interested in more effective primary prevention of stroke.

For as much as we know about DNA and gene expression, many more mysteries remain to be solved. Epigenetics and epigenomics seek to study heritable modifications in gene expression that do not involve underlying DNA sequences to further human health changes. Examining the Causal Relationship Between Genes, Epigenetics, and Human Health provides innovative research methods and applications of chemical activation or deactivation of genes without altering the original DNA sequence. While highlighting topics including gene expression, personalized medicine, and public policy, this book is ideal for researchers, geneticists, biologists, medical professionals, students, and academics seeking current research on the expanding fields of genomics, epigenomics, proteomics, pharmacogenomics, and genome-wide association studies.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, 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 in this growing field. The book is ideal 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. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies.

"International Review of Research in Developmental Disabilities "is an ongoing scholarly look at research into the causes, effects, classification systems, syndromes, etc. of developmental disabilities. Contributors come from wide-ranging perspectives, including genetics, psychology, education, and other health and behavioral sciences.

Volume 42 of the series offers chapters on a variety of themes.
Provides the most recent scholarly research in the study of developmental disabilitiesA vast range of perspectives is offered, and many topics are covered An excellent resource for academic researchers

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.

How scientific advances in genetic modification will fundamentally change the natural world The process of manipulating the genetic material of one animal to include the DNA of another creates a new transgenic organism. Several animals, notably goats, mice, sheep, and cattle are now genetically modified in this way. In Our Transgenic Future, Lisa Jean Moore wonders what such scientific advances portend. Will the natural world become so modified that it ceases to exist? After turning species into hybrids, can we ever get back to the original, or are they forever lost? Does genetic manipulation make better lives possible, and if so, for whom? Moore centers the story on goats that have been engineered by the US military and civilian scientists using the DNA of spiders. The goat's milk contains a spider-silk protein fiber; it can be spun into ultra-strong fabric that can be used to manufacture lightweight military body armor. Researchers also hope the transgenically produced spider silk will revolutionize medicine with biocompatible medical inserts such as prosthetics and bandages. Based on in-depth research with spiders in Florida and transgenic goats in Utah, Our Transgenic Future focuses on how these spidergoats came into existence, the researchers who maintain them, the funders who have made their lives possible, and how they fit into the larger science of transgenics and synthetics. This book is a fascinating story about the possibilities of science and the likely futures that may come.

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.