90182 - Immunology and Molecular Pathology (C3A)

Learning outcomes

Outcomes of the whole integrated course, including immunology:

The immune system as the fundamental defense system of the organism. Immune alterations as causes of disease.

Mechanisms and causes of disease stemming from genomic alterations.

Tumor phenotype, origins and natural history of tumors in a translational perspective leading to cancer prevention and innovative therapeutic approaches.

 

Course contents

Genetic Pathology

Pier-Luigi Lollini

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 recombinationa and mismatch repair. Sensor 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, Le basi patologiche delle malattie, 7ª ed., Elsevier

Alternative

Pontieri, Patologia generale, Piccin

Approfondimenti

Molecular genetics

Lewin, Il gene VIII, 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

Oral exam

Teaching tools

PDF files can be downloaded from http://campus.cib.unibo.it

Links to further information

http://www.lollini.it

Office hours

See the website of Pier Luigi Lollini