Animal Models Of Human Birth Defects

This book focuses on the use of animal models to study various human defects. It summarizes our current understanding of a variety of common human birth defects and the essential role of animal models in shedding light on the underlying mechanisms of these disorders. Birth defects are the leading cause of infant deaths, and cost billions of dollars in care for those affected. Unfortunately, the lack of a clear understanding of the mechanisms leading to many of these developmental disorders has hindered effective prevention and early intervention strategies. Studies using animal models have provided essential insights into several human birth defects. This book serves as a valuable reference resource for researchers and graduate students who are interested in learning the basic principles as well as the latest advances in the study of the mechanisms of human birth defects.

This book focuses on the use of animal models to study various human defects. It summarizes our current understanding of a variety of common human birth defects and the essential role of animal models in shedding light on the underlying mechanisms of these disorders. Birth defects are the leading cause of infant deaths, and cost billions of dollars in care for those affected. Unfortunately, the lack of a clear understanding of the mechanisms leading to many of these developmental disorders has hindered effective prevention and early intervention strategies. Studies using animal models have provided essential insights into several human birth defects. This book serves as a valuable reference resource for researchers and graduate students who are interested in learning the basic principles as well as the latest advances in the study of the mechanisms of human birth defects.

Approximately three percent of newborn humans have congenital anomalies with significant cosmetic and/or functional consequences. Much of our ability to understand what has gone awry in these birth defects rests with development of animal models for them; the mouse has emerged as the model organism of choice for these studies. This volume reviews mouse models of specific developmental genetic diseases, including neural tube defects; cleft lip and/or palate; congenital heart disease; ciliopathies; hereditary deafness and others to provide conceptual insight into congenital anomalies generally. The interplay between clinical observation and murine model systems is expected to yield deep insight into mammalian developmental processes and the emergence of effective preventive and/or therapeutic strategies. * Provides busy clinical and basic science researchers a one-stop overview and synthesis of the latest research findings and contemporary thought in the area * Allows researchers to compare and contrast disease models and also to learn about what models have been developed for large-scale distribution * Allows researchers to evaluate basic differences in mouse and human biology and propose alternate pathways and possible gene interactions of the disease

Precision medicine is focused on the individual and will require the rapid and accurate identification and prioritization of causative factors of disease. To move forward and accelerate the delivery of the anticipated benefits of precision medicine, developing predictable, reproducible, and reliable animal models will be essential. In order to explore the topic of animal-based research and its relevance to precision medicine, the National Academies of Sciences, Engineering, and Medicine convened a 2-day workshop on October 5 and 6, 2017. The workshop was designed to focus on the development, implementation, and interpretation of model organisms to advance and accelerate the field of precision medicine. Participants examined the extent to which next-generation animal models, designed using patient data and phenotyping platforms targeted to reveal and inform disease mechanisms, will be essential to the successful implementation of precision medicine. This publication summarizes the presentations and discussions from the workshop.

This book explores the factors which are critical in the selection of an appropriate animal species for toxicology studies and the subsequent extrapolation of the data to humans. It provides some future directions for risk assessment activities at the Environmental Protection Agency.

Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.

Animal experiments have contributed much to our understanding of mechanisms of disease and are important for determining new therapies. This volume reviews the latest research and developments in this field. * Discusses new discoveries, approaches, and ideas * Contributions from leading scholars and industry experts * Reference guide for researchers involved in molecular biology and related fields

Each year more than 4 million children are born with birth defects. This book highlights the unprecedented opportunity to improve the lives of children and families in developing countries by preventing some birth defects and reducing the consequences of others. A number of developing countries with more comprehensive health care systems are making significant progress in the prevention and care of birth defects. In many other developing countries, however, policymakers have limited knowledge of the negative impact of birth defects and are largely unaware of the affordable and effective interventions available to reduce the impact of certain conditions. Reducing Birth Defects: Meeting the Challenge in the Developing World includes descriptions of successful programs and presents a plan of action to address critical gaps in the understanding, prevention, and treatment of birth defects in developing countries. This study also recommends capacity building, priority research, and institutional and global efforts to reduce the incidence and impact of birth defects in developing countries.