Progress in Genomic Medicine: From Research to Clinical Application 2021 Original pdf

With Progress in Genomic Medicine: From Research to Clinical Application, celebrated author and human geneticist, Moyra Smith, provides a careful synthesis of the foundations, current trends, and translational challenges in genomic medicine, to clarify pathways forward and enable genomic medicine research and implementation across clinical settings and treatment development. Part I of Progress in Genomic Medicine addresses the history and growth of genetic medicine, with a discussion of key studies in syndrome delineations, inherited diseases, biochemical genetics, and chromosome abnormalities. Part II includes an overview of 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, tumor and complex pathology genetics, pharmacogenetics, enzyme and protein replacement therapies, and gene and nucleotide-based therapies. Social, ethical, and public health aspects of applying genomic technologies, are included throughout. Here, Dr. Smith applies her experience and participation in field, across its major milestones, to put current research, clinical advances, and ongoing questions, in context.