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.

Translational Cardiometabolic Genomic Medicine, edited by Dr. Annabelle Rodriguez-Oquendo, is an important resource to postgraduate (medical, dental and graduate) students, postdoctoral fellows, basic scientists, and physician scientists seeking to understand and expand their knowledge base in the field of genomic medicine as it is applied to cardiometabolic diseases. This handbook integrates cutting-edge experimental approaches such as chromatin immunoprecipitation paired end tagging (CHIA-PET), to population studies such as the Multi-Ethnic Study of Atherosclerosis. It encompasses a range of book chapters that highlight bioinformatic approaches to better understanding functionality of the noncoding regions of the human genome to the use of molecular diagnostic testing in predicting increased risk of cardiovascular diseases. Where applicable, this reference also includes chapters related to therapeutic options specifically aligned to molecular targets.

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.

Translating Gene Therapy to the Clinic, edited by Dr. Jeffrey Laurence and Michael Franklin, follows the recent, much-lauded special issue of Translational Research in emphasizing clinical milestones and critical barriers to further progress in the clinic. This comprehensive text provides a background for understanding the techniques involved in human gene therapy trials, and expands upon the disease-specific situations in which these new approaches currently have the greatest therapeutic application or potential, and those areas most in need of future research. It emphasizes methods, tools, and experimental approaches used by leaders in the field of translational gene therapy. The book promotes cross-disciplinary communication between the sub-specialties of medicine, and remains unified in theme.

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.

The book chapters cover different aspects of epilepsy genetics, starting with the "classical" concept of epilepsies as ion channel disorders. The second part of the book gives credit to the fact that by now non-ion channel genes are recognized as equally important causes of epilepsy. The concluding chapters are designed to offer the reader insight into current methods in epilepsy research. Each chapter is self-contained and deals with a selected topic of interest.
Authors are the leading experts in the field of epilepsy researchBook covers the most important aspects of epilepsy Interesting for both scientists and clinicians

This volume of the esteemed "Progress in Molecular Biology and Translational Science" series focuses on cutting-edge research related to the genetics of cardiovascular disease. Written by top experts in the field, this volume covers a range of topics, including:

Genetic models of atherosclerosis

MicroRNAs in cardiovascular disease

The role of the transcription factor KLF2 in vascular development and disease

Zebrafish as models of cardiovascular disease and hematopoietic development

"Progress in Molecular Biology and Translational Science" provides a forum for discussion of new discoveries, approaches, and ideas in molecular biology. It contains contributions from leaders in their fields and abundant references.

Key features: The authors are all experts in the fieldThe reviews are in themselves comprehensiveEach topic has the potential to lead to advances in therapy of cardiovascular disease

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.

The best-selling author of Leonardo da Vinci and Steve Jobs returns. In 2012, Nobel Prize winning scientist Jennifer Doudna hit upon an invention that will transform the future of the human race: an easy-to-use tool that can edit DNA. Known as CRISPR, it opened a brave new world of medical miracles and moral questions. It has already been deployed to cure deadly diseases, fight the coronavirus pandemic of 2020, and make inheritable changes in the genes of babies. But what does that mean for humanity? Should we be hacking our own DNA to make us less susceptible to disease? Should we democratise the technology that would allow parents to enhance their kids? After discovering this CRISPR, Doudna is now wrestling these even bigger issues. THE CODE BREAKERS is an examination of how life as we know it is about to change - and a brilliant portrayal of the woman leading the way.