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.
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Table of Contents
Part I. History and Growth of Genetic Medicine 1. Documentation of units of inheritance and their contribution to phenotype2. Early documentation of inherited disorders through family studies 3. Discoveries in physiology, biochemistry, protein and enzyme studies between 1920-19704. Early translation of biochemical, metabolic and genetic discoveries into clinical medicine5. Advances in methods of genome analyses, nucleotide analyses and implications of variants
Part II. Clinical Applications of Genomic Medicine6. Expansion of use of genome analyses and sequencing to diagnosis of genetic diseases 7. Improved analyses of regulatory genome, transcriptome and gene function, mutation penetrance and clinical applications 8. Standardized phenotype documentation, documentation of genotype phenotype correlations9. Expansion of methods of gene editing therapy and analysis of safety and efficacy10. Public health applications of genetics including newborn screening and documentation of gene environment interactions 11. Analysis of variants associated with abnormal drug responses, genetics and genomics in drug design12. Genetic and genomic medicine relevance to cancer prevention, diagnosis, and treatment13. Benefits of the incorporation of genomic medicine in clinical practice14. Using insights from genomics to increase possibilities for treatment of genetic diseases
Authors
Moyra Smith Professor Emerita, Department of Pediatrics and Human Genetics, College of Health Sciences, University of California, Irvine, CA, USA.Dr. Moyra Smith is a Professor Emerita in the Department of Pediatrics and Human Genetics, College of Health Sciences, at the University of California, Irvine, and in past years has held appointments at the National Institutes of Health and Johns Hopkins University. In 2017, the UCI Emeriti Association awarded Dr. Smith the UCI Outstanding Emerita Award in recognition of her continuing research on genetics and genomics, strong record of publications, active engagement with programs in the Department of Pediatrics, mentoring of graduate students, and involvement with the CART Autism Center at UCI. Dr. Moyra Smith has published more than 100 scientific articles in peer-reviewed journals such as Frontiers in Molecular Biosciences, Molecular Psychiatry, the Journal of Medical Genetics (JMG), and Cytogenetics Cell Genetics.
