- Docente: Fabio Dall'Olio
- Credits: 5
- Language: Italian
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: Single cycle degree programme (LMCU) in Medicine and Surgery (cod. 8415)
Learning outcomes
At the end of the course the student knows the mechanism through which genomic alterations cause diseases; the phenotype of tumor cells, the origin and natural history of tumors within the framework of cancer prevention and innovative preclinical approaches to the control of cancer; the student is able to apply this knowledge to specific pathologies.
Course contents
The course of Molecular Pathology is comprised of a "Genetic Pathology" part (2 credits) to which the following program refer, and an Oncology part (3 credits) the program of which is published on the web page of Prof. Lollini.
GENETIC PATHOLOGY
Mutations: types and causes and their pathogenetic effects. Chromosomal disorders: Del22q11 syndrome. Mendelian disorders. Alterations of cytoskeleton proteins: 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 concept of loss of heterozygosis (LOH). 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
Robbins & Cotran Pathologic Basis of Disease 9th edition
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
The most appropriate textbook for this course is the Robbins-Cotran, The pathological basis of disease, 9th edition, Elsevier. However, it is strongly recommended the attendance to the course.
Office hours
See the website of Fabio Dall'Olio