Progress in Genomic Medicine: From Research to Clinical Application

ISBN-13: 9780323915472 / Angielski / Miękka / 2021

Moyra Smith

Spis treści

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