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

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 following syllabus includes the entire program of the Genetic Pathology module. The integrated course also includes Immunology and Oncology

GENOMIC ALTERATIONS CAUSING DISEASE

Causes and types of mutation, pathogenetic effects.

MOLECULAR BASES OF CHROMOSOMIC DISEASES

Di George (CATCH) syndrome. Prader-Willi and Angelman syndromes, mechanisms of parental imprinting.

MOLECULAR BASES OF CHROMOSOMIC DISEASES

Fragile X syndrome, Huntington chorea and triplet expansion. 

MOLECULAR BASES OF MENDELIAN DISEASES

Alterazions of cytoskeletal proteins: hereditary spherocytosis. Muscular dystrophies of Duchenne and Becker. Alterations of extracellular matrix proteins: collagens (osteogenesis imperfecta, Ehlers-Danlos syndromes) and fibrillin (Marfan syndrome).

Alterations of receptors: familia hypercholesterolemia. Structure of LDL receptor and classes of mutations.

Alterations of enzymes. Lysosomal enzymes, sorting of lysosomal enzymes and gentic alterations.

Alterazioni ionic channels: cystic fibrosis.

Prionic diseases. Hereditary Alzheimer's disease, role of APP and presenilins.

CONTROL OF GENOMIC INTEGRITY

DNA repair: NER, BER, homologous recombination and mismatch repair. Sensors of genotoxic damage, ATM and p53.

HEREDITARY NEOPLASTIC SYNDROMES CAUSED BY GATEKEEPER GENES

Retinoblastoma and Knudson's hypotheis. Familial polyposis, APC and its role in the control of cell cycle and mitosis. von Hippel Lindau syndrome and hypoxia control.

HEREDITARY NEOPLASTIC SYNDROMES CAUSED BY CARETAKER GENES

Xeroderma pigmentosum, ataxia-telangectasia, hereditary breast cancer and BRCA genes, Li-Fraumeni syndrome, hereditary non-polyposis colorectal cancer.

Readings/Bibliography

Note: english-speaking students can use original versions of the books, when available.

Recommended

Robbins. Kumar & Klatt. Il manuale di patologia generale e anatomia patologica. Edra Masson

Alternative

Pontieri, Patologia generale, Piccin

Further readings

Molecular genetics

Lewin, Il gene, Zanichelli

Medical Genetics

Strachan & Read, Genetica molecolare umana, UTET

Thompson & Thompson, La genetica in medicina, UTET

Gene therapy

Lollini, De Giovanni, Nanni, Terapia genica, available in PDF thorugh Campus site

Teaching methods

Lectures

Assessment methods

The final grade takes into account the synthesis of final evaluations of different subjects belonging to the integrated course of Immunology and Molecular Pathology. Each single evaluation (performed as oral or written test as to Immunology) is integrated in order to obtain the unique final grade (maximum 30 points). Such grade is the CFU-weighted average of grades obtained in specific questions on main objectives of the integrated course (10 CFU), which consists of the following three subjects: Immunology (5 CFU), Genetic Pathology and Oncology (5 CFU). Examination is passed if the grade in each subjects is not lower than 18 points.

Teaching tools

All the slides and other materials used for lectures is available through the Web.

Office hours

See the website of Pier Luigi Lollini