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.
Course Prerequisites
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.
Teaching Methods
The course consists of lessons where teacher-student interactions are welcomed. Practical tutoring activities and insights provided by the visiting professor are included.
Assessment Methods
WRITTEN EXAM ON THE KIROTESTING PLATFORM (open questions, multiple-choice questions)
Texts
HUMAN MOLECULAR GENETICS: Tom Strachan & Andrew Read (John Wiley & Sons Ed.)
Contents
The course will cover the following topics: structure, organization, and function of the human genome; 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 medical genetic research; gene-disease identification and linkage analysis; genes in pedigrees, inheritance of genetic diseases, and genotype-phenotype correlations; cystic fibrosis, genetic basis and phenotype; human hemoglobin, structure, organization and evolution of globin genes, hemoglobinopathies, sickle cell anemia, and molecular basis of thalassemias; AB0 polymorphism; cancer genetics, oncogenes and tumor suppressor genes, genome instability; the genetic model of retinoblastoma; sporadic and hereditary colorectal tumors; sporadic and hereditary endocrine tumors, MEN1, MEN2, and MEN4 syndromes; VHL disease and genotype-phenotype correlation; paraganglioma syndrome, SDHx mutations and the Warburg effect; epigenetics (histone code, DNA methylation, miRNAs) and cancer; complex diseases, the genetic component and genome-wide association studies (GWAS); trinucleotide repeat disorders and Huntington’s disease; Fragile X syndrome; DNA repair mechanisms, nucleotide excision repair (NER) and NER defect syndromes.
