Progress in Genomic Medicine

Progress in Genomic Medicine

From Research to Clinical Application

1st Edition - November 4, 2021

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  • Author: Moyra Smith
  • Paperback ISBN: 9780323915472
  • eBook ISBN: 9780323915489

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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.

Key Features

  • 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


Clinical Genomicists, Molecular Pathologists, Molecular Geneticists, Clinical Cytogeneticists, Clinical Geneticists, Primary Care Physicians (including Oncologists, Pediatricians, Neurologists, Cardiologists, and Neonatologists), and Genetic Counselors. Bioinformaticians, clinical informaticians, molecular laboratory technologists, and molecular pathology/molecular genetics trainees

Table of Contents

  • Part I. History and Growth of Genetic Medicine
    1. Documentation of units of inheritance and their contribution to phenotype
    2. Early documentation of inherited disorders through family studies
    3. Discoveries in physiology, biochemistry, protein and enzyme studies between 1920-1970
    4. Early translation of biochemical, metabolic and genetic discoveries into clinical medicine
    5. Advances in methods of genome analyses, nucleotide analyses and implications of variants

    Part II. Clinical Applications of Genomic Medicine
    6. 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 correlations
    9. Expansion of methods of gene editing therapy and analysis of safety and efficacy
    10. 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 design
    12. Genetic and genomic medicine relevance to cancer prevention, diagnosis, and treatment
    13. Benefits of the incorporation of genomic medicine in clinical practice
    14. Using insights from genomics to increase possibilities for treatment of genetic diseases

Product details

  • No. of pages: 396
  • Language: English
  • Copyright: © Academic Press 2021
  • Published: November 4, 2021
  • Imprint: Academic Press
  • Paperback ISBN: 9780323915472
  • eBook ISBN: 9780323915489

About the Author

Moyra Smith

Dr. Moyra Smith is Professor Emerita in the Department of Pediatrics and Human Genetics, College of Health Sciences, at the University of California, Irvine, and in past years held an appointment at 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, her strong record of publications, her active engagement with programs in the Department of Pediatrics, her mentoring of graduate students, and her involvement with the CART Autism Center at UCI. Dr. Smith has published more than 100 scientific articles in such peer reviewed journals as Frontiers in Molecular Biosciences, Molecular Psychiatry, the American Journal of Medical Genetics - Neuropsychiatric Genetics, and the American Journal of Human Genetics.

Affiliations and Expertise

Division of Genetic and Genomic Medicine, Department of Pediatrics, University of California Irvine, Irvine, CA, United States

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