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
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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