Moyra Smith - Böcker

Gene Environment Interactions: Nature and Nurture in the Twenty-first Century offers a rare, synergistic view of ongoing revelations in gene environment interaction studies, drawing together key themes from epigenetics, microbiomics, disease etiology, and toxicology to illuminate pathways for clinical translation and the paradigm shift towards precision medicine. Across eleven chapters, Dr. Smith discusses interactions with the environment, human adaptations to environmental stimuli, pathogen encounters across the centuries, epigenetic modulation of gene expression, transgenerational inheritance, the microbiome's intrinsic effects on human health, and the gene-environment etiology of cardiovascular, metabolic, psychiatric, behavioral and monogenic disorders.

Later chapters illuminate how our new understanding of gene environment interactions are driving advances in precision medicine and novel treatments. In addition, the book's author shares strategies to support clinical translation of these scientific findings to improve heath literacy among the general population.

Offers a thorough, interdisciplinary discussion on recent revelations from gene environment interaction studies Illuminates environmental factors affecting disease-gene etiology and treatment Supports the clinical translation of gene environment interaction findings into novel therapeutics and precision medicine

Mechanisms and Genetics of Neurodevelopmental Cognitive Disorders connects neurodevelopment with genetics and behavior to better understand the underlying factors leading to cognitive neurodevelopmental disorders. This book focuses on mechanisms of disease and follows the development of specific brain regions, functions, and gene expression to causes and processes in autism, attention deficit disorder, and learning disabilities. Topics include brain mapping, brain plasticity, epigenetics, neuroimmunology, and many other factors that influence the development of these diseases.

This book will promote understanding of recent investigations and developments related to brain development from fetal life onward with specific relevance to neurodevelopmental cognitive disorders and conditions. This is an essential reference for anyone who is looking to learn more about different aspects of neurodevelopment and emerging concepts in psychiatric disorders.

Discusses links between brain development, gene expression, and brain function Covers neural stem cells, proliferation, migration, differentiation, and neurogenesis Includes brain mapping, brain plasticity, epigenetics, neuroimmunology, and more Provides insight into causation and brain function in autism, attention deficit disorder, and learning disabilities Examines impact of society and environmental factors on mental health

Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental retardation. At the same time, the human genome project has yielded a wealth of information on DNA sequencing, regulation of gene expression, epigenetics, and functional aspects of the genome, which newly propels investigation into the pathogenesis of mental retardation. This book makes readily available current knowledge on the subject and applies it to clinical medicine, providing information essential to neurologists, geneticists, physicians and pediatricians as they search for the causes of mental handicap in their patients. Introductory chapters cover normal and abnormal brain structure, neurogenesis, neuronal proliferation, and signal transduction. Latter chapters delve into discussions of both the environmental factors that may lead to neurocognitive deficits and the cytogenetic, biochemical and molecular defects specifically associated with mental retardation. One chapter reviews gene involvement in non-syndromic mental retardation, autism, and language deficits, as well as multifactorial and genetically complex inheritance. The text concludes with a clinically practical discussion of carrier detection, presymptomatic diagnosis, and treatment of various genetic diseases through enzyme therapy, substrate deprivation, and the use of hemapoietic stem cells.

In this new book, noted geneticist and veteran OUP author, Moyra Smith, will present a comprehensive critical review of the translation of genetic and genomic research into health care. Dr. Smith's motivation for writing is driven by the gap that exists between the rather amazing discoveries in medical genetics and genomics at basic science levels and the translation of these advances into evidence-based clinical practice. She will examine experimental and observational research and translation to disease management in single gene disorders, specific genetic syndromes, and complex genetic diseases. She will also examine information technology in genetic medicine, sociocultural factors that impact provision of medical care, and medical education issues with regard to translational genetics in order to help prepare a work force that is better able to utilize evidence-based medicine and to accommodate the rapid changes in genetic and genomic health care.

During the past two decades international collaborative studies have yielded extensive information on genome sequences, genome architecture and their variations. The challenge we now face is to understand how these variations impact structure and function of organelles, physiological systems and phenotype. The goal of this book is to present steps in the pathways of exploration to connect genotype to phenotype and to consider how alterations in genomes impact disease. In this book the author reviews published research in functional genomics carried out primarily since 2006 that sheds light on aspects of phenotypic variation. The goal of functional genomics is to gain insight into mechanisms through which specific changes in genome transcripts and regulation induce changes in proteins, pathways, organelles, cellular and tissue functions, morphology and ultimately in phenotype. Topics reviewed include investigations in genome architecture, gene structure, gene regulation epigenetic modifications and function of organelles including mitochondria, and the endosome lysosome system. New insights into neurodevelopment and neurobehavioral disorders gained through functional genomic research are presented. Aspects of genomic studies in complex common diseases are reviewed. Molecular genetic variations and aberrations in cellular mechanisms involved in protein quality surveillance play a role in late onset diseases and one chapter deals with this topic. Molecular analyses of genes and proteins continue to shed light on the pathogenesis of malformation syndromes and specific examples of such studies are presented. There is growing evidence that late onset disorders such as Parkinson disease, are frequently the end result of defects in functioning of components in different pathways and examples of these are discussed. There is evidence that genetic variation determines differences in response to environmental insults. Genetic variations in complement factor genes are an example of this and are discussed in the context of macular degeneration and pathogenesis of hemolytic uremic syndrome in response exposure to E coli Shiga toxin. In the final chapter the author briefly summarizes key features of the cascade of events that constitute functional genomics.

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 autismThrough these specific examples, Seeking Cures provides a glimpse at the pursuit-and future-of personalized medicine.

Progress in Genomic Medicine: From Research to Clinical Application provides a careful synthesis of the foundations, current trends and translational challenges in genomic medicine, clarifying pathways forward and enabling genomic medicine research and implementation across clinical settings and treatment development. Sections address the history and growth of genetic medicine, with a discussion of key studies in syndrome delineations, inherited diseases, biochemical genetics, and chromosome abnormalities, overview clinical applications made possible through genomic advances, with chapters on DNA sequencing for clinical genetic diagnosis, genotype-phenotype correlations in individuals and across populations, new-born screening for treatable genetic disorders, and more.

In addition, social, ethical and public health aspects of applying genomic technologies are included throughout. Here, Dr. Smith applies her experience and participation in the field, across its major milestones, to put current research, clinical advances, and ongoing questions in context.

Traces the development of the field of genomic medicine, exploring key scientific advances and recent steps forward in clinical translation Considers the influence of genomic medicine on complex and monogenic pathology analysis, treatment plans and therapeutics Ties recent research and clinical advances to their historical context

The Regulatory Genome in Adaptation, Evolution, Development, and Disease synthesizes insights from recent genomic and gene expression studies across organisms, from humans to plants, animals, and single cell life, exploring common roles gene regulation plays in adaptive evolution, developmental biology and susceptibility to disease. The book sheds light on gene regulation across evolutionary timelines, illuminating new areas of focus and future research. Chapters consider key elements in gene expression regulation, fundamentals of genomic alterations over time, and in response to environmental and local conditions, epigenetics in adaptive evolution, and adaptive gene regulation in healthy processes and developmental biology, and in disease biology.

Throughout the book, a comparative approach is adopted across organisms to highlight common evolutionary themes and genome diversity revealed by recent sequencing and GWAS studies, as well as how this informs our understanding of human adaptive evolution. The book finishes by detailing how we can use this knowledge to impact disease outcomes and healthy human metabolism, development, and physiology.

Reviews key elements in the regulation of gene expression and modes of studying gene regulation across evolutionary timelines Adopts a cross-species view, synthesizing recent sequencing and GWAS studies across organisms to draw out fresh meaning and highlight pathways for future research Considers altered gene expression associated with developmental defects and disease, as well as healthy biology and physiology, and our adaptive response to disease influence

Genetic Disease Discovery and Therapeutics presents information on the methods used to determine how specific gene defects influence pathology and phenotype and to review novel therapeutic approaches designed for the treatment of specific genetic and genomic disorders.This book investigates methodologies applied to the characterization of downstream functional effects of specific gene mutations associated with altered phenotypes and clinical disease. It documents evidence of how specific mutations influence pathology and lead to disease manifestations. This book also reviews information on therapeutic approaches that could potentially be applied in diseases due to gene defects. Genetic Disease Discovery and Therapeutics is a valuable reference for scientists and graduate students involved in laboratory research related to genetics, physiology, pathology, and pharmacology as well as clinicians who encounter patients with genetic disorders.Considers refined diagnostic techniques for genetic diseasesDocuments evidence regarding mechanisms through which gene defects alter biochemical function and lead to pathologyPresents new techniques being applied to the treatment of gene and genome-based disordersAims to consider the goals of personalized precision medicine as defined by the NIH

Advances in Genomics and Neurosciences for Neurologic and Behavioral Disorders explores the latest breakthroughs in genomics and neurosciences, providing essential insights for understanding, diagnosing, and managing neurodevelopmental, psychiatric, and neurodegenerative disorders. This book serves as a comprehensive resource, highlighting the intersection of genetic and genomic diagnostic techniques with brain function and structure analysis to enhance therapeutic strategies. The book covers a wide range of topics, including the analysis of brain circuits, synapses, and neural activity, as well as the role of ion channels and neurotrophins in brain function. It examines advanced genetic and genomic diagnostic methods such as chromosome studies, gene sequencing, RNA analysis, and metabolite profiling. The book also addresses neurodevelopmental disorders like cerebral palsy, epilepsy, and autism, psychiatric disorders such as schizophrenia and thought disorders, and the molecular biology of memory and age-related cognitive decline. Organized into five sections, the book includes chapters on the latest techniques for brain analysis, genetic diagnostics, neurodevelopmental and psychiatric disorders, aging-related impairments, and new therapeutic approaches. Key topics include brain regions and circuits, new methods for studying these areas, and the relevance of this information for accurate diagnosis and patient care. The book also discusses emerging therapeutic targets and advances in pharmacology, including gene and RNA-directed therapies and optogenetic treatments. This book is a valuable resource for neurologists, psychiatrists, geneticists, and researchers in the fields of biochemistry and molecular biology. It provides crucial knowledge for improving patient care and counseling, making it an indispensable reference for professionals dedicated to understanding and treating neurologic and behavioral disorders.Explores advances in genomics and neurosciences relevant to neurodevelopmental, psychiatric, and neurodegenerative disordersDiscusses cutting-edge genetic and genomic diagnostic techniques for accurate diagnosis and personalized treatmentAnalyzes brain circuits, synapses, and dendrites to enhance understanding of brain-related disorders and diagnostic methodsReviews therapeutic targets and pharmacological advances, including gene and RNA-directed therapies and optogenetic therapiesProvides real-world applications and case studies to bridge the gap between research and patient care

This is the inaugural volume for a new annual review serving the medical genetics community. This annual volume will feature in-depth scholarly reviews of the most timely and important topics and issues affecting this field. Special Offer from the New York Academy of Sciences: Order this volume at a discount and become a NYAS Individual Member free. Click here to find out more on the NYAS site. Follow the instructions for adding individual membership to your shopping cart and choose this volume, which will show as being free. Offer not applicable in conjunction with a Student & Postdoc Membership.NOTE: Annals volumes are available for sale as individual books or as a journal. For information on institutional journal subscriptions, please visit www.blackwellpublishing.com/nyas.ACADEMY MEMBERS: Please contact the New York Academy of Sciences directly to place your order (www.nyas.org). Members of the New York Academy of Science receive full-text access to the Annals online and discounts on print volumes. Please visit http://www.nyas.org/MemberCenter/Join.aspx for more information about becoming a member.

This book presents clinical and research aspects of medicine and social dimensions of healthcare. It is designed for an audience with interest in health and societal factors. It is in part autobiographical, based on different phases of the author's life in medicine over 50 years, who revisited cases and problems encountered as she worked in different countries, including South Africa, Scotland, England and North America. Essays encompass aspects of clinical medicine and aspects of research, particularly in Genetics and Genomic Medicine. New information on the topic or disorder and current opinions and approaches to finding solutions are reviewed.

This book presents clinical and research aspects of medicine and social dimensions of healthcare. It is designed for an audience with interest in health and societal factors. It is in part autobiographical, based on different phases of the author's life in medicine over 50 years, who revisited cases and problems encountered as she worked in different countries, including South Africa, Scotland, England and North America. Essays encompass aspects of clinical medicine and aspects of research, particularly in Genetics and Genomic Medicine. New information on the topic or disorder and current opinions and approaches to finding solutions are reviewed.

This book describes the growth of information on specific aspects of physiology and pathology of particular disorders and provides an analysis of the processes and contributions of pioneers to discovery. It begins primarily in the second half of the 19th century and explores specific contributions of researchers through to the 20th and 21st centuries. The book revisits specific aspects of physiology, biochemistry and molecular biology relevant to genetic medicine. In addition, it provides a review of specific human disorders that the author has encountered during her career, as well as an analysis of the progress in determining disease mechanisms and improving therapies.The chapters in this book provide insights into the processes of research and discovery, as well as how elucidation of disease mechanisms translates into research in diagnostics and treatments.The book provides historical information and current information obtained from recent journals and presentations, on each of the topics discussed.

The aim and scope of this book is to review current information on human development and processes of differentiation that have benefited from breakthrough analyses in stem cell biology, elucidation of genome and gene architecture and aspects of regulation of gene expression, analysis of signaling systems and transcription factor actions.Insights into actions of specific genes and their roles in development have been gathered through studies in patients with specific birth defects, including congenital malformations, metabolic defects and functional impairments.The book is organized into three sections, the first dealing with aspects of genomics, gene structure and regulation, analysis of signaling and function of specific organelles. The second section deals with molecular aspects of development of specific organs and structures such as, bone, face, brain, heart, liver, pancreas, kidney. The last section deals with specific malformations and tumors that provide insight into regulation of growth. Environmental factors that impact growth and development are also covered.