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Course organization
Provide a general view of the molecular mechanisms at the base of human pathologies, in particular those of genetic origin. Gain information about the relationships between alterations of molecules or metabolic pathways and their consequence in cells, tissue and organism.
Molecular pathology of proteins; introduction and general concepts
Hemoglobinopathies
Molecular pathology of collagen
Protein aggregation diseases
Diseases of membrane transporters: cystic fibrosis
Inherited metabolic diseases: defects of the carbohydrates metabolism, defects of the lipids metabolism, defects of the amino acids metabolism, defects of the nucleotide metabolism, mitochondrial diseases, lysosomal storage diseases, peroxisomal disorders.
ER stress associated diseases
New therapeutic approaches for enzymatic deficits
Action of bacterial toxins
Role of free radicals in diseases
Molecular pathology of DNA and RNA
Oral examination
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