510668 - MOLECULAR BIOLOGY AND GENETICS

Course Overview The course provides the foundations of molecular biology and genetics, starting from the study of the cell to the latest discoveries in epigenetics. The Cell: Overview of biological macromolecules; types of cells; structure (membrane, nucleus, endoplasmic reticulum, Golgi apparatus, mitochondria, cytoskeleton); cell cycle, mitosis and meiosis; membrane communication and transport; necrosis and apoptosis. Hereditary Information: Overview of historical experiments (Griffith, Avery-MacLeod-McCarty, Hershey-Chase); genome organization (chromatin, chromosomes, genes), normal and pathological karyotype. Function of DNA (replication, damage, repair, transcription, translation) and RNA (processing, transport, regulation, and non-coding RNAs). Genetic Mutations: Classification based on the extent of change (point mutations, chromosomal aberrations, karyotypic anomalies), origin (spontaneous or induced), type of cell involved (somatic or germline), and functional impact (silent, missense, nonsense, frameshift, trinucleotide repeat expansions). Description of beneficial, neutral, sub-lethal, and lethal mutations. Study of mutation nomenclature, frequency, and the role of polymorphisms, SNPs, and repetitive sequences (mini- and microsatellites). Mendelian Genetics: Study of Mendel’s experiments and related laws of dominance, segregation, and independent assortment. In-depth exploration of extensions of classical laws: multiple alleles, incomplete dominance, codominance, lethal alleles, polygeny, pleiotropy, and epistasis. Introduction to the concepts of penetrance and expressivity. Chromosome theory of inheritance, including gene linkage and recombination frequency analysis; construction of genetic maps. Study of sex-linked inheritance and use of pedigrees to reconstruct inheritance patterns. Examples of genetic disorders with different modes of inheritance: autosomal dominant and recessive, X-linked, mitochondrial, monogenic, and multifactorial. Population Genetics: Study of geographic constraints influencing genetic distribution; analysis of allele and genotype frequencies within populations; analysis of genetic variability (qualitative, quantitative, and intra-species) and the role of genetic recombination. In-depth exploration of Hardy-Weinberg equilibrium as a model for allele frequencies in ideal populations. Introduction to the principles of evolutionary biology (pre- and post-Darwin). Quantitative Genetics: Differences between qualitative and quantitative traits; genetic models based on multiple alleles and polygenic traits; analysis of frequency distributions; study of gene-environment interactions; calculation and analysis of genetic and environmental variance; concept of heritability. Mapping of quantitative trait loci (QTL) and threshold models for multifactorial traits. Examples of main research methods: twin studies, adoption studies, familial aggregation, genetic linkage and association. Discussion of complex diseases, including neurodevelopmental and neurodegenerative disorders. Behavioral Genetics: Differences between heredity and heritability; analysis of the nature versus nurture debate; heritability calculation; twin and adoption studies. Genetic analyses such as linkage and association studies in relation to conditions like schizophrenia and aggressive behavior. Presentation of experimental studies using animal models and advanced genomic methods (CGAS and GWAS). Examination of the combined role of genetic and environmental factors, with particular focus on the MAO-A gene and associations with specific SNPs. Epigenetics: Comparison between classical genetics and epigenetics; description of major epigenetic mechanisms (DNA methylation and demethylation, histone modifications, and the role of non-coding RNAs). Analysis of epigenetic modulation induced by environmental, emotional, and nutritional factors. In-depth study of the role of epigenetics in development, aging, and disease, with a focus on Alzheimer’s disease. Discussion of the reversibility of epigenetic modifications; presentation of genomic imprinting and related diseases (e.g., Prader-Willi and Angelman syndromes). Overview of the Epigenome Project and its implications. Gene Therapy: Strategies for ex vivo and in vivo gene transfer; description of viral vectors (retroviruses, lentiviruses, adenoviruses, adeno-associated viruses, herpes simplex virus) and non-viral vectors (naked DNA, liposomes, cationic polymers, gene gun). Examples of diseases treated with gene therapy (ADA-SCID and DMD). Students will be able to find and download all course slides on the KIRO computer platform. The contents of the course will be addressed taking into consideration the ethical-deontological principles which, based on the specific theme , will be described in detail by the teacher, both from a theoretical point of view and with a direct connection to practical activity (e.g. through discussion of example cases). The study program DOES NOT provide differentiation between attending and non-attending students. However, for the specialized contents, attendance is recommended.