Learning objectives
The aim of this course is to offer to the student the opportunity of a molecular approach to the disease. Students will be able have a general view of the pathogenesis of the disease correlating the molecular alterations with alterations of cell, tissue and organ. Diagnostic possibility at molecular level will be also discussed.
Prerequisites
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Course unit content
GENETIC DISORDERS
Transmission patterns of pathologic characters; Molecular basis and example of single-gene disorders; Multifactorial syndromes
CYTOGENETIC DISORDERS
Numerical and structural disorders of chromosomes
AGING AND CELL DEATH
Premature aging; Progeria; Werner syndrome; Telomerase, aging and cancer
GENETIC DISORDERS OF ERYTHROCYTE
Sickle-cell disease; Thalassemias; Erythrocyte enzyme deficiency; cytoskeleton alterations
MOLECULAR DIAGNOSIS OF GENETIC DISORDERS
Pre- and postnatal diagnosis
Full programme
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Bibliography
Robbins – Pathologic Basis of Disease, Elsevier Saunders.
Teaching methods
Frontal lessons with electronic material at student disposal
Assessment methods and criteria
Oral examination
Other information
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