Università degli Studi di Pavia - Faculty of Science


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Human Molecular Genetics

Guglielmina Nadia Ranzani

Course content

The human genome: structure, organization and function. From the Human Genome project to ENCODE, 1000-Genomes, and beyond. Human DNA variability: extent and technologies. DNA polymorphisms as tools in forensic genetics and in medical genetic research. Identification of disease-genes and linkage analysis. Genes in pedigrees; inheritance of genetic diseases, genotype-phenotype correlations. Cystic fibrosis. The human hemoglobins: structure, organization and evolution of globin genes; hemoglobinopathies; sickle-cell anemia; molecular basis of thalassemias. Cancer genetics: oncogenes and tumor suppressor genes, genome instability. The genetic model of retinoblastoma. The sporadic and hereditary colorectal cancers. Epigenetics (histone code, DNA methylation, miRNAs); epigenetics and cancer. Complex diseases: the genetic component and the Genome Wide Association Studies (GWAS). Trinucleotide repeat disorders and the Huntington's disease. The nucleotide excision repair (NER) and the NER-defect syndromes. Pharmacogenetics and pharmacogenomics (applications in cancer treatment).

Credits: apnetwork.it