Human Genetics and Genomics

Part I. Structure and Function of the Human Genome 1. Basic principles of DNA structure, replication, and repair. 2. Information flow from DNA to RNA to protein. 3. Principles of gene regulation. 4. Mechanisms of mutation and genetic variation. 5. Organization of the genome, including coding and noncoding sequences. 6. Structure of chromosomes and mechanisms of mitosis and meiosis. Part II. Genes in Families and Populations 1. Principles of Mendelian and non-Mendelian transmission (dominant, recessive, sex-linked, mitochrondrial). 2. Multifactorial inheritance. 3. Gene mapping, linkage, and association. 4. Genotype-phenotype correlations. 5. Principles of population genetics, including Hardy-Weinberg equilibrium, mutation, selection, founder effect, inbreeding. 6. Principles of cancer genetics and somatic variation. Part III. Genetics and Genomics in Medical Practice 1. Chromosome analysis and chromosomal abnormalities. 2. Role of genetic testing in diagnosis of monogenic disorders. 3. Genetic testing for risk assessment in common disorders. 4. Use of gene expression analysis in tissue diagnosis. 5. Pharmactogenetics and pharmacogenomics. 6. Prospects for gene therapy. 7. Ethical issues in application of genetics and genomics in medicine.