BIOLOGICAL MOLECULES 1

The extended version of the course contents is available at the following link: https://elearning.unipd.it/dimed/course/index.php?categoryid=130

MOLECULAR BIOLOGY MODULE

General concepts and definitions.
Control of gene expression: stages of transcription, promoters, enhancers, prokaryotic sigma factors, eukaryotic transcription factors.
Eukaryotic polymerases: basal transcription, regulation of transcription by transcription factors and chromatin topology.
Combinatorial control of gene expression: Hox genes.
Epigenetics: definitions, DNA and histone epigenetic codes, epigenetic memory and inheritance, techniques, epigenetics and cancer.
Cell differentiation: plasticity, robustness, cell reprogramming with transcription factors and nuclear transplantation.
Non-coding RNA in biology and medicine: microRNA, long non-coding RNA, RNA interference.
Methods in molecular biology with recombinant DNA: basic concepts and techniques, development of cellular and animal models for specific diseases.
Genome Editing: basic and advanced techniques for precise genome editing in vitro and in vivo, bioethical problems associated with genome editing.
Signaling pathways and regulation of gene transcription related to biomedicine: general strategies of cell-cell communication, how growth factors and cytokines regulate gene transcription and cell behavior, description of selected pathways, cellular sensing of biophysical properties.
Principles of genome and transcriptome analysis.
Molecular biology of cancer.

MEDICAL GENETICS MODULE

General Aspects and definitions: organization of the human genome, databases and browsers for genomes storage and visualization.
Cytogenetics and chromosomal disorders: structure of chromosomes, chromosomal abnormalities and their molecular bases (NAHR, NHEJ).
Population genetics: Hardy-Weinberg Law, allelic frequencies, genetic drift, founder effect, selection. Haldane’s Law.
Mendelian Disorders: classification of mutations and their nomenclature, Molecular bases of dominance and recessivity, Genetic linkage.
Non-Mendelian Monogenic Disorders: mitochondrial genetics, triplet expansion disorders, genomic imprinting disorders, diagnostic techniques.
Basic concepts of genetic diagnosis: standard cytogenetic and molecular techniques, estimation of genetic risk.
Multifactorial disorders: genes and environment, polygenic inheritance, quantitative traits, hereditability, twin studies, redictive tests.
Genetics of Tumors: proto-oncogenes and tumor suppressor genes.
Pharmacogenetics and Pharmacogenomics.
Clinical epigenetics.
Therapy for genetic diseases. Gene therapy, stem cells, and pharmacological approaches.
Selected examples of genetic diseases. Facioscapulohumeral Dystrophy Type I and II. miRNA mutations Spinal muscular atrophy. Cystic fibrosis