Bøger af Moyra (Professor Emerita Smith

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.

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.

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.