Learning outcomes of the course unit
To provide the molecular mechanism underlying genetic and metabolic diseases
Knowledge of molecular biology is strongly recommended
Course contents summary
The course will provide the essential elements concerning the molecular mechanisms of genetic diseases. 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.
Robbins e Contran “Pathologic basis of disease” 7° Ed. Kumar- Abbas – Fausto
Oral lesson - Audiovisual tutorials, empoyed during the lessons, will be provided to the students.
Assessment methods and criteria