Human Molecular Genetics

Human Molecular Genetics

Teachers: Pellegata Natalia Simona, Erica Golemis

Course content

An adequate knowledge of the English language is required.
In addition, basic knowledge of genetics and molecular biology is essential: mechanisms of cell division, segregation of mendelian traits, recombination, genetic vs. physical mapping, mendelian inheritance in pedigrees, DNA replication, transcription, translation, gene mutations, variability, Hardy–Weinberg equilibrium.

The student is expected to acquire a good knowledge of: the structure and organisation of the human genome; the genetic and molecular bases of inherited diseases and of complex diseases; the carcinogenic process associated with both inherited and sporadic tumours; the new tools to investigate human genetic variability.

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 hemoglobin: 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 Huntington’s disease. The nucleotide excision repair (NER) and the NER-defect syndromes. Pharmacogenetics and pharmacogenomics (applications in cancer treatment). The NGS approach: applications.

Strachan T. & Read A. Human Molecular Genetics. John Wiley & Sons Ed.