The course will provide the essential elements concerning the molecular mechanisms of diseases and devensive responses. Examples of some genetic and metabolic diseases highly frequent in humans will be provided. Some of the most frequent genetic diseases in the human species and the methods of diagnosis of genetic and chromosomal disorders will be described in detail. In particular the following topics will be developed: Inheritance of the pathologic characters. Structural and numerical chromosomal aberrations. Examples of genetic diseases: Cystic fibrosis, Emoglobinopatie, Family Hypercholesterolemia, Phenylketonuria, Marfan syndrome, Osteogenesis imperfecta, Ehlers-Danlos Syndromes. Methods of diagnosis of genetic diseases: cytogenetic, biochemical tests, analysis of DNA, tests on maternal body fluids. Metabolic diseases: diabetes, steatosis, amiloidosis, Alzheimer disease.
Oncology. The cell cycle: control mechanisms and their alterations. Stem cells and cancer. Protooncogenes, oncogenes and oncoproteins. Oncosuppressor genes and their products. Altered DNA repair mechanisms and tumors. Defects of apoptosis and cancer. Intiation and promotion. The neoplastic cell. Tumor progression. Tumor angiogenesis. Invasivity. Metastasis.
Pathophysiology of tissue injury and repair. The response to tissue injury. Acute and chronic inflammation; Events, mechanisms, types and evolution of the inflammatory process; Chemical mediators of inflammation; Tissue repair and regeneration: Stem cells and tissue regeneration; Tissue repair and its alterations; Wound healing.