01132 - Molecular Pathology - Immunology (Integrated Course) (A)

Learning outcomes

At the end of the Course the student knows the genomic alterations as cause of disease, the cancer phenotype, the ethiopathogenesis and natural history of cancer in the frame of prevention and preclinical innovative approaches aimed at the control of cancer disease. The student is able to apply to specific diseases the basic pathogenetic mechanisms.

Course contents

Mutations: types and causes and their pathogenetic effects. Chromosomal disorders: Del22q11 syndrome. Mendelian disorders. Alterations of cytoskeleton proteins: hereditary spherocytosis, Duchenne and Becker dystrophyes. Alterations of extracellular matrix proteins: collagen diseases (osteogenesis imperfecta). Alterations of receptor proteins: familial hypercholesterolemia. Alterations of lysosomal enzymes: The Tay-Sachs disease. Alterations of ion channels: cystic fibrosis. Epigenetic mechanisms of control of gene expression: promoter methylation, long non-coding RNAs, RNA interference. Genomic imprinting: the Prader-Willi and Angelman syndromes. Disease caused by trinucleotide repeat mutations: fragile-X syndrome and Huntington corea.  Molecular techniques of genetic investigation: polymerase chain reaction (PCR), expression and genomic microarrays. Hereditary cancer syndromes: cancer caused by mutation of “gatekeeper” genes: retinoblastoma and the Knudson's hypothesis. Familial adenomatous polyposis: the role of APC protein in the cell cycle control. The von Hippel Lindau syndrome and the hypoxia responsive mechanisms. Cancer caused by mutation of “caretaker” genes. Mechanisms of DNA repair: NER, BER, homologous recombinational repair and mismatch repair. The DNA damage surveillance network: role of ATM and p53 genes. Alterations of gatekeeper genes. Xeroderma pigmentosum, ataxia telangiectasia, hereditary breast cancer, Li-Fraumeni syndrome, non-polyposis colorectal cancer.

Readings/Bibliography

The most appropriate textbook for this course is the Robbins-Cotran, The pathological basis of disease, 8th edition, Elsevier. However, it is strongly recommended the attendance to the course.

Teaching methods

16 hours in groups of 2 hours lessons. Slides available on line (AMS Campus). It is strongly recommended to print the slides, and to use the prints as a track to make notes.

Assessment methods

Oral examination at the end of the course. The dates of the exams are published on AlmaEsami.

Teaching tools

Several PDF files containing the slides of the course, can be downloaded from the AMS campus website. 

Office hours

See the website of Fabio Dall'Olio