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.

Evolutionary science teaches that humans arose as a population, sharing common ancestors with other animals. Most readers of the book of Genesis in the past understood all humans descended from Adam and Eve, a couple specially created by God. These two teachings seem contradictory, but is that necessarily so? In the fractured conversation of human origins, can new insight guide us to solid ground in both science and theology? In The Genealogical Adam and Eve, S. Joshua Swamidass tests a scientific hypothesis: What if the traditional account is somehow true, with the origins of Adam and Eve taking place alongside evolution? Building on well-established but overlooked science, Swamidass explains how it's possible for Adam and Eve to be rightly identified as the ancestors of everyone. His analysis opens up new possibilities for understanding Adam and Eve, consistent both with current scientific consensus and with traditional readings of Scripture. These new possibilities open a conversation about what it means to be human. In this book, Swamidass untangles several misunderstandings about the words human and ancestry, in both science and theology explains how genetic and genealogical ancestry are different, and how universal genealogical ancestry creates a new opportunity for rapprochement explores implications of genealogical ancestry for the theology of the image of God, the fall, and people "outside the garden" Some think Adam and Eve are a myth. Some think evolution is a myth. Either way, the best available science opens up space to engage larger questions together. In this bold exploration, Swamidass charts a new way forward for peace between mainstream science and the Christian faith.

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.

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.

From the gene that causes people to age prematurely to the "bitter gene" that may spawn broccoli haters, this book explores a few of the more exotic locales on the human genome, highlighting some of the tragic and bizarre ways our bodies go wrong when genes fall prey to mutation and the curious ways in which genes have evolved for our survival. Lisa Seachrist Chiu offers here a smorgasbord of stories about rare and not so rare genetic quirks-the gene that makes some people smell like a fish, the Black Urine Gene, the Werewolf Gene, the Calico Cat Gene. We read about the Dracula Gene, a mutation in zebra fish that causes blood cells to explode on contact with light, and suites of genes that also influence behavior and physical characteristics. The Tangier Island Gene, first discovered after physicians discovered a boy with orange tonsils (scientists now realize that the child's odd condition comes from an inability to process cholesterol). And Wilson's Disease, a gene defect that fails to clear copper from the body, which can trigger schizophrenia and other neurological symptoms, and can be fatal if left untreated. On the plus side, we read about the Myostatin gene, a mutation which allows muscles to become much larger than usual and enhances strength-indeed, the mutations have produced beefier cows and at least one stronger human. And there is also the much-envied Cheeseburger Gene, which allows a lucky few to eat virtually anything they want and remain razor thin. While fascinating us with stories of genetic peculiarities, Chiu also manages to explain much cutting-edge research in modern genetics, resulting in a book that is both informative and entertaining. It is a must read for everyone who loves popular science or is curious about the human body.

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 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.

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.

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.