Progress in Genomic Medicine (eBook)

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

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.

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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